CADASIL: a short review of the literature and a description of the first family from Greece
|
|
- Warren Blake
- 5 years ago
- Views:
Transcription
1 CADASIL: a short review of the literature and a description of the first family from Greece Michail Vikelis a Michail Xifaras b Dimos-Dimitrios Mitsikostas a a Department of Neurology, Athens Naval Hospital, Athens, Greece b Department of Neurology, General Hospital of Nikea, Nikea, Greece Reprint requests to: Dr Michail Vikelis 17 Androutsou str., Voula 16673, Greece m_vikelis@yahoo.co.uk Accepted for publication: March 24, 2006 Summary Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease clinically characterized by migraine, subcortical ischemic events, dementia and mood disorders. We present a short review of the literature on the clinical presentation of patients with CADASIL and provide recommendations for the detection and diagnosis of similar cases. We also describe the clinical, radiological and genetic findings of two Greek patients with CADASIL, members of the same family. KEY WORDS: autosomal dominant arteriopathy, CADASIL, Notch3 gene, subcortical dementia. Introduction Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare autosomal dominant genetic disorder clinically characterized by a variety of symptoms including migraine, recurrent ischemic strokes, mood disorders, progressive cognitive impairment resulting in dementia, and premature death. CADASIL usually manifests itself in early or middle adulthood with the onset of migraine or an ischemic event (1-4). Worldwide, about 400 families with CADASIL have been identified. Migraine The migraine in CADASIL is accompanied by aura in most cases. Reviewing the cases of 105 patients, Desmond et al. (2) found that migraine was the presenting symptom in 42 patients (40%), occurring at a mean age of 28.3 years. Thirty (28.6%) had experienced migraine with aura, six (5.7%) migraine without aura, and six (5.7%) unspecified migraine. The specific aura subtype of the patients with aura was not reported. In another series of 83 patients (3) migraine was the initial symptom in 26 (31.3%), while late-onset migraine was reported by five patients (6%). Twenty-nine (34.5%) reported aura: the aura was always visual in six patients (7.2%), sensory and visual in 12 (14.4%), only sensory in five (6%), and sensory, visual, and dysphasic in two (2.4%). In two patients (2.4%), migraine attacks were accompanied by brief confusional episodes lasting minutes to hours. In accordance with the findings of Desmond et al. (2), few patients experienced late-onset migraine, suggesting that migraine is unlikely to occur if it is not the presenting symptom. In a more recent study, Vahedi and colleagues (5) studied aura characteristics in 41 CADASIL patients who experienced exclusively migraine with aura and noticed an unusually high frequency of attacks of migraine with atypical aura. In conclusion, migraine, usually with aura, is a very common feature in CADASIL patients and can be the presenting symptom in about one third of them. Rare forms of migraine, such as retinal migraine, have also been described as the presenting symptom in CADASIL (6). Stroke Ischemic events, transient or permanent, are the presenting symptom in the majority of patients and the most common disease characteristic overall (2-4). They typically appear between 30 and 50 years of age. Most of the ischemic events are classic lacunar infarcts that, contrary to typical stroke, arise in the absence of hypertension or any other recognized vascular risk factors. Most patients experience multiple recurrent subcortical ischemic events, leading to a stepwise decline and a dementia syndrome with frontal lobe features. In several series of CADASIL patients, ischemic deficits were present in up to 90% of symptomatic patients, most of whom experienced recurrent ischemia. It is likely that practically all the deceased CADASIL patients in these studies suffered strokes (2-4). Dementia Another common feature in CADASIL patients is the development of cognitive deficits (2-4). The dementia in individuals with CADASIL progresses slowly and typically develops after a history of recurrent stroke. However, progressive dementia in the absence of previous strokes can also be a common presenting symptom of Functional Neurology 2006; 21(2):
2 M. Vikelis et al. CADASIL (2-4). A recent study of 42 CADASIL patients (7) demonstrated that cognitive decline in CADASIL is dominated by early impairment of executive functions, while skills in other cognitive domains deteriorate with age and are found to be widely impaired in patients with dementia. Other manifestations Mood and psychiatric disturbances, including severe depression, have been observed in patients with CADASIL and can be the presenting symptoms in many of them (2,3). Seizures were reported by six patients in the review by Desmond et al. (2). Although wide variability in the time from symptom onset to death has been noted, CADASIL is believed typically to result in reduced survival. MRI findings Brain magnetic resonance imaging (MRI) plays a central role in the diagnosis and evaluation of CADASIL. Its findings include diffuse hyperintensities on T2-weighted imaging (T2-WI) that are found consistently in the white matter and are particularly frequent in the periventricular areas, although they also occur in the basal ganglia and pons, and hypointensities on T1-WI that may also be found in the white matter, the basal ganglia and pons (2,3). However, T2 hyperintensities occur in the absence of T1 hypointensities in up to one third of affected individuals. Even young, asymptomatic children with CADASIL can have small T2 hyperintensities in periventricular and subcortical white matter, as shown in a study by Fattapposta and colleagues (8). Unfortunately, the MRI features are non-specific, as they are also observed in other conditions such as angiitis or metachromatic leukodystrophy. More recent studies have shown that the distribution of MRI abnormalities in patients with CADASIL differs from that seen in patients with leukoaraiosis secondary to hypertension (9,10). Involvement of the external capsule and the anterior temporal lobe were found to show high sensitivity and specificity in differentiating MRI CADASIL findings from MRI findings of the leukoencephalopathy usually associated with hypertension. Nevertheless, these characteristic findings can be absent in some cases, as was shown in a more recent study of 112 CADASIL patients, which also demonstrated that MRI lesion load increased progressively with age and correlated with some clinical features including stroke and dementia (11). In this study, the severity of high-signal-intensity lesion load (measured using the modified Scheltens scale) was found to be maximal in the frontal, parietal, and anterior temporal cortex, and the external capsule; intermediate in the pons; and relatively low in the corpus callosum, caudate, globus pallidus, cerebellum, midbrain, and medulla. In conclusion, MRI studies in CADASIL suggest that patients with a suspicious clinical history and specific abnormal MRI findings in the absence of vascular risk factors should be considered for genetic testing to rule out CADASIL syndrome (8-11). Pathology The pathological hallmark of CADASIL is a small vessel non-amyloid non-atherosclerotic arteriopathy with media thickened by osmiophilic, granular, electron-dense material (GOM) of unknown origin (12,13). The observation that this could also be detected on skin biopsy led to the suggestion that this may be a useful diagnostic technique (14), but although initial studies suggested that skin biopsies were abnormal in almost all symptomatic cases of CADASIL (14,15), other studies have questioned this (16). A possible explanation is that the deposition of GOM in the skin arterioles varies between families and between mutations. Genetics CADASIL is an inherited disease with mutations in the transmembrane receptor of the Notch3 gene on chromosome 19q12 (17). The product of the Notch3 gene is a 2321 amino acid type I transmembrane protein and a component of an intercellular signaling pathway essential for controlling cell fate during development (18). The extracellular portion of this protein contains 34 tandem repeats of an epidermal growth factor (EGF) motif, each of which contains six cysteine residues binding within the domain as three cysteine-cysteine disulphide bonds. The mutations that have been demonstrated in CADASIL occur in these EGF repeats, which are encoded for by the first 23 exons. Most described mutations are found in exons 3 and 4 and almost 90% can be detected within a few exons (exons 2-6) (19,20). The mutational spectrum in CADASIL has recently been shown to comprise missense mutations (approximately 95%), splice site mutations, and small deletions (17-21). Certain mutations were particularly common, and most of these (80%) were C to T transitions affecting CpG dinucleotides, and this is consistent with their multiple occurrences resulting from hypermutability of this sequence (22). In a recent large prospectively recruited cohort of CADASIL subjects, no Notch3 genotype-phenotype correlations were determined, implying that modulating factors, such as smoking or high homocysteine levels influence phenotype (23). Differential diagnosis The differential diagnosis of CADASIL includes diseases that have clinical characteristics and MRI findings resembling those of CADASIL, such as Binswanger s disease, multiple sclerosis, and primary CNS angiitis (24-26). However, these diseases are sporadic and findings such as hypertension in Binswanger s disease and involvement of the spinal cord or optic nerves, or oligoclonal bands in the spinal fluid in multiple sclerosis will be lacking in patients with CADASIL (2-4). Other, more uncommon, disorders to be considered in the differential diagnosis include hyperhomocystinemia, hereditary dyslipoproteinemias, hereditary thrombotic disorders, Fabry disease and adrenoleukodystrophies 78 Functional Neurology 2006; 21(2): 77-82
3 CADASIL (27). These disorders can be differentially diagnosed from CADASIL on the basis of clinical signs, mode of inheritance and the results of laboratory tests. Diagnosis CADASIL should be considered a possibility in any patient with migraine (with or without aura), stroke or a mood disorder whose imaging demonstrates multiple abnormalities (especially if the external capsule and anterior temporal lobe areas are particularly affected), which arise in the absence of hypertension or other recognized vascular risk factors. A family history of similar disease and premature death is supportive, if present. It must also be remembered that, as noted by Razvi et al. (28), restriction of family history to premature stroke alone is probably inadequate to identify affected CADASIL pedigrees. A false-negative family history was commonly documented in their series of individuals presenting with features of CADASIL. For individuals with a typical clinical phenotype and radiological findings, genetic testing and skin biopsy should be considered to establish the diagnosis. Skin biopsy is diagnostic if GOM is present. Nevertheless, it can sometimes be negative. Genetic screening should initially include exons 2 to 6. If found to be negative, screening of the remaining exons should be considered, although diagnosis by mutation detection can be a major undertaking in many patients (27). Frequency and clinical course The prevalence of CADASIL remains unclear. In a recent report, Razvi et al. (29) analyzed a Scottish population for carriership of mutations in Notch3 and found a prevalence of 1.98 individuals per 100,000. It is uncertain whether these data can be extrapolated to other populations. Data on the clinical course of CADASIL are scarce. In a recent study, Peters and colleagues (30) prospectively followed eighty CADASIL subjects for a mean period of about two years and observed that the extent and mode of progression varied greatly among subjects and that some patients showed a marked and rapid deterioration, whereas others remained stable or even improved. Most patients with worsening disability in this cohort had experienced a new stroke, indicating that recurrent stroke is a major determinant of disability progression in CADASIL. Treatment No specific treatment is currently available for CADASIL. Antithrombotic agents such as aspirin are often used. Yet, there are no data proving the efficacy of this or any other agent in CADASIL (27,28). The current approach includes aggressive management of the major cerebrovascular risk factors of hypertension, diabetes, hyperlipidemia and smoking. Description of cases A 55-year-old right-handed woman was referred to our department for assessment of progressive cognitive decline. The patient had worked for 30 years as a nurse, but the memory and concentration problems she had been suffering for the past couple of years had worsened to the point that she had had to stop working. Her past medical history was significant for headaches since adolescence (the description of these headaches suggested migraine with aura) occurring with a frequency of about one per month. Twenty-five years earlier she had also been diagnosed with anxiety disorder, previously treated with benzodiazepines and serotonin selective reuptake inhibitors. With the exception of moderate hypercholesterolemia responsive to statins, she presented no other vascular risk factor, such as hypertension, diabetes or smoking. Her family history was significant for headaches and premature death. Both her mother and grandmother had also suffered from headaches and a similar progressive illness, associated with memory problems, difficulty in walking and cognitive impairment, that had lasted a few years and resulted in death before the age of 60. The patient recorded a score of 29/30 on the Mini-Mental Status Examination and a score of 85/100 on Addenbrook s cognitive examination scale. Cranial nerves and fundi were normal. There was no motor or sensory deficit or cerebellar signs. Examination of other systems was normal. There were no abnormal reflexes. The patient s routine blood examination (including homocysteine levels), chest x-ray, ECG and carotid Doppler studies were normal. Results of investigations for cerebral vasculitis, multiple sclerosis and metabolic causes of leukoencephalopathy were unremarkable. Brain MRI (Fig. 1, over) showed extensive patchy hyperintensities on T2-WI located in the periventricular, subcortical and deep white matter of the cerebral hemispheres. Involvement of the external capsule, in particular, was noted. Similar foci were present in the basal ganglia and brainstem without hypointensities on T1- WI. In view of the possibility of CADASIL, genetic studies were performed on a sample of the patient s blood, by sequencing exons 3 and 4 of the Notch3 gene. In the protein coding sequence of exon 4, a heterozygous Arg169Cys (CGC/TGC) mutation was detected. This mutation, substituting an arginine codon in the epidermal growth factor-like repeats (EGFRs) of the Notch3 receptor with a cysteine codon on one allele, has been described by Joutel et al. (1) as a disease-causing mutation in CADASIL patients. The patient s close family members underwent neurological evaluation. She has a 32-year-old daughter and a 30-year-old son. The latter has a five-year history of migraine with aura. Although their neurological examinations and brain MRI scans were normal, the two underwent genetic studies and the son was shown to be a carrier of the same heterozygous Arg169Cys mutation. The patient also has two sisters (aged 57 and 51) and two brothers (aged 49 and 46). Both the sisters and the eldest brother underwent a brain MRI scan and genetic testing, which gave normal findings. The youngest brother, who is reported to have a history of psychosis, refused to be evaluated. Functional Neurology 2006; 21(2):
4 M. Vikelis et al. A B Figure 1 - MRI brain scan of our first patient (FLAIR images), showing involvement of the external capsule (Panel A) and the anterior temporal lobe (Panel B). The pedigree includes 13 individuals from five generations (Fig. 2). Two individuals (our patient and her son) were found to be affected, on the basis of their clinical manifestations and the results of MRI and genetic testing. Two additional individuals (our patient s mother and grandmother) were probably affected, too (going by the historical information obtained from relatives). It was also suspected, again on the basis of historical information obtained from relatives, that our patient s youngest brother, who refused investigation, may also be affected. Concluding remarks Although the number of newly diagnosed CADASIL cases continues to rise as physicians become aware of the condition (more families with CADASIL are being reported, particularly during the last decade), its prevalence remains unclear. Nevertheless, these facts suggest that the disease is probably underdiagnosed. Greater sensitivity to the earliest manifestations and subsequent clinical course of CADASIL will allow the formation of patient cohorts for observational studies as well as therapeutic tri- 80 Functional Neurology 2006; 21(2): 77-82
5 CADASIL 57 2 als. Diagnosis of CADASIL is important not only for prognosis of symptomatic patients but also for the counseling of asymptomatic family members who may be at risk as well. Acknowledgments We are grateful to the patients for consenting to the publication of this study. References 55 III 1 III IV 1 IV I II 1 II 2 II 3 II III 3 III 4 III 5 Figure 2 - Pedigree of the family. Individuals III 2 and IV 2 are affected, individuals I 1 and II 1 may have been affected. All individuals from generations III and IV underwent genetic testing, except for individual III 5. This individual refused testing but may be affected. 11. Joutel A, Corpechot C, Ducros A et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383: Desmond D, Moroney J, Lynch T, Chan S, Chin S, Mohr JP. The natural history of CADASIL. Stroke 1999;30: Markus HS, Martin RJ, Simpson MA et al. Diagnostic strategies in CADASIL. Neurology 2002;59: Dichgans M, Mayer M, Uttner I et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998;44: Vahedi K, Chabriat H, Levy C, Joutel A, Tournier-Lasserve E, Bousser MG. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol 2004;61: Ravaglia S, Costa A, Santorelli FM, Nappi G, Moglia A. Retinal migraine as unusual feature of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Cephalalgia 2004;24: Buffon F, Porcher R, Hernandez K et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry 2006;77: Fattapposta F, Restuccia R, Pirro C et al. Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI. Funct Neurol 2004;19: O Sullivan M, Jarosz J, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001;56: Auer D, Putz B, Gossl C, Elbel G, Gasser T, Dichgans M. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology 2001;218: Singhal S, Rich P, Markus HS. The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features. Am J Neuroradiol 2005;26: Davous P, Fallet Bianco C. Familial subcortical dementia with arteriopathic leucoencephalopathy. A clinico-pathological case. Rev Neurol (Paris) 1991;147: Ruchoux MM, Mange CA. CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol 1997;56: Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol (Berl) 1995;89: Ebke M, Dichgans M, Bergmann M et al. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand 1997;95: Mayer M, Straube A, Bruening R et al. Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL. J Neurol 1999;246: Joutel A, Vahedi K, Corpechot C et al. Strong clustering and stereotyped nature of Notch 3 mutations in CADASIL patients. Lancet 1997;350: Artavanis-Tsakonas S, Matsuno K, Fortini M. Notch signaling. Science 1995;268: Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol 2005;62: Federico A, Bianchi S, Dotti MT. The spectrum of mutations for CADASIL diagnosis. Neurol Sci 2005;26: Dichgans M, Herzog J, Gasser T. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Neurology 2001;57: Joutel A, Chabriat H, Vahedi K et al. Splice site mutation causing a seven amino acid notch3 in-frame deletion in CADASIL. Neurology 2000;54: Singhal S, Bevan S, Barrick T, Rich P, Markus HS. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain 2004;127: Gutierrez-Molina M, Caminero Rodriguez A, Martinez Garcia C, Arpa Gutierrez J, Morales Bastos C, Amer G. Small arterial granular degeneration in familial Binswanger s syndrome. Acta Neuropathol (Berl) 1994;87: Vahedi K, Tournier-Lasserve E, Vahedi K, Chabriat H, Bousser MG. An additional monogenic disorder that masquerades as multiple sclerosis. [letter] Am J Med Genet 1996;65: Williamson EE, Chukwudelunzu FE, Meschia JF, Witte RJ, Dickson DW, Cohen MD. Distinguishing primary angiitis of the central nervous system from cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoen- Functional Neurology 2006; 21(2):
6 M. Vikelis et al. cephalopathy: the importance of family history. Arthritis Rheum 1999;42: Hassan A, Markus HS. Genetics and ischemic stroke. Brain 2000;123: Razvi SS, Davidson R, Bone I, Muir KW. Is inadequate family history a barrier to diagnosis in CADASIL? Acta Neurol Scand 2005;112: Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 2005;76: Peters N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL subjects. Progression patterns and implications for clinical trials. Stroke 2004; 35: Functional Neurology 2006; 21(2): 77-82
Patient with vertigo, dizziness and depression
Clinical Case - Test Yourself Neuro/Head and Neck Radiology Patient with vertigo, dizziness and depression Michael Mantatzis, Paraskevi Argyropoulou, Panos Prassopoulos Radiology Department, Democritus
More informationGenetic Testing of CADASIL Syndrome. Populations Interventions Comparators Outcomes Individuals: With suspected CADASIL syndrome.
Protocol Genetic Testing of CADASIL Syndrome (20475) Medical Benefit Effective Date: 04/01/18 Next Review Date: 11/18 Preauthorization Yes Review Dates: 01/12, 01/13, 01/14, 11/14, 11/15, 11/16, 11/17
More informationCan a tissue sample help us understand a major genetic cause of stroke & vascular dementia?
stroke.org.uk Final report summary: Can a tissue sample help us understand a major genetic cause of stroke & vascular dementia? Characterising the vascular pathophysiology in CADASIL (Cerebral Autosomal
More informationCerebral Autosomal-Dominant Arteriopathy with Subcortical
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype Study in 200 Consecutively Recruited Individuals Poneh Adib-Samii, MRCP; Glen Brice, BSc; Roswell J. Martin, FRCP;
More informationTurkish Title: Akut Eş Zamanlı Subkortikal Infarktların Neden Olduğu Progresif Bulber Paralizi ile Prezente olan CADASIL Olgusu
DOI: Manuscript Type: Case Report Turkish Title: Akut Eş Zamanlı Subkortikal Infarktların Neden Olduğu Progresif Bulber Paralizi ile Prezente olan CADASIL Olgusu Turkish Running Head: Eş Zamanlı İnfartlarla
More informationCerebral small vessel disease
Cerebral small vessel disease What is it? What are the clinical syndromes? How do we diagnose it? What is the pathophysiology? New insights from genetics? Possible therapies? Small Vessel disease Changes
More informationDND. Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation
Print ISSN 1738-1495 / On-line ISSN 2384-0757 Dement Neurocogn Disord 2016;15(1):15-19 / http://dx.doi.org/10.12779/dnd.2016.15.1.15 ORIGINAL ARTICLE DND Phenotypic Features of Cerebral Autosomal-Dominant
More informationVascular Dementia. Laura Pedelty, PhD MD The University of Illinois at Chicago and Jesse Brown VA Medical Center
Vascular Dementia Laura Pedelty, PhD MD The University of Illinois at Chicago and Jesse Brown VA Medical Center none Disclosures Objectives To review the definition of Vascular Cognitive Impairment (VCI);
More informationVague Neurological Conditions
Vague Neurological Conditions Dr. John Lefebre, MD, FRCPC Chief Regional Medical Director Europe, India, South Africa, Middle East and Turkey Canada 2014 2 3 4 Agenda Dr. John Lefebre, M.D., FRCPC 1. TIA
More informationCADASIL: structural MR imaging changes and apolipoprotein E genotype S E V E N
CADASIL: structural MR imaging changes and apolipoprotein E genotype S E V E N CADASIL: structural MR imaging changes and apolipoprotein E genotype R. van den Boom S.A.J. Lesnik Oberstein A.A. van den
More informationInteractive Cases: Demyelinating Diseases and Mimics. Disclosures. Case 1 25 yo F with nystagmus; look for tumor 4/14/2017
Interactive Cases: Demyelinating Diseases and Mimics Disclosures None Brad Wright, MD 27 March 2017 Case 1 25 yo F with nystagmus; look for tumor What do you suspect? A. Demyelinating disease B. Malignancy
More informationNeuroradiological, clinical and genetic characterization of new forms of hereditary leukoencephalopathies
Neuroradiological, clinical and genetic characterization of new forms of hereditary leukoencephalopathies Principal Investigator: Dr. Donatella Tampieri, MD, FRCPC, Department of Neuroradiology, Montreal
More informationThe comparisons of phenotype and genotype between CADASIL and CADASILlike patients and population-specific evaluation of CADASIL scale in China
He et al. The Journal of Headache and Pain (2016) 17:55 DOI 10.1186/s10194-016-0646-5 The Journal of Headache and Pain RESEARCH ARTICLE Open Access The comparisons of phenotype and genotype between CADASIL
More informationCerebral Microbleeds in CADASIL. A Gradient-Echo Magnetic Resonance Imaging and Autopsy Study
Cerebral Microbleeds in CADASIL A Gradient-Echo Magnetic Resonance Imaging and Autopsy Study Martin Dichgans, MD; Markus Holtmannspötter, MD; Jürgen Herzog, MD; Nils Peters, MD; Michael Bergmann, MD; Tarek
More informationGenetic Testing for CADASIL Syndrome
Medical Policy Manual Genetic Testing, Policy No. 51 Genetic Testing for CADASIL Syndrome Next Review: April 2019 Last Review: May 2018 Effective: June 1, 2018 IMPORTANT REMINDER Medical Policies are developed
More informationMRI and differential diagnosis in patients suspected of having MS
Andrea Falini Italy MRI and differential diagnosis in patients suspected of having MS IMPROVING THE PATIENT S LIFE THROUGH MEDICAL EDUCATION www.excemed.org Outline of presentation - Diagnostic criteria
More informationBlood Supply. Allen Chung, class of 2013
Blood Supply Allen Chung, class of 2013 Objectives Understand the importance of the cerebral circulation. Understand stroke and the types of vascular problems that cause it. Understand ischemic penumbra
More informationCapillary vessel wall in CADASIL angiopathy
Original article Capillary vessel wall in CADASIL angiopathy Eliza Lewandowska 1, Grażyna M. Szpak 1, Teresa Wierzba-Bobrowicz 1, Joanna Modzelewska 1, Tomasz Stępień 1, Elżbieta Pasennik 1, Bogna Schmidt-Sidor
More informationSTROKE EXPERT SYSTEM EXTENDED TO DIAGNOSIS CADASIL
STROKE EXPERT SYSTEM EXTENDED TO DIAGNOSIS CADASIL Jeffrey L. Sponsler, MD, MS Alaska Brain Center, LLC Wasilla, Alaska USA 99654 Michael Senta, MD 950 Bogard Rd # 238 Wasilla, Alaska USA 99654 Anastasia
More informationGrey matter volume alterations in CADASIL: a voxel-based morphometry study
J Headache Pain (2012) 13:231 238 DOI 10.1007/s10194-012-0418-9 ORIGINAL Grey matter volume alterations in CADASIL: a voxel-based morphometry study Maria Camilla Rossi Espagnet Andrea Romano Filippo Carducci
More informationSupplementary Note. Patient #1 Additional Details
Supplementary Note Patient #1 Additional Details Past medical history: The patient was ambidextrous. She had a history of hypertension, hyperlipidemia, migraines, and remote history of an ANA-positive
More informationDepartment of Neurology, Jeju National University Hospital, Jeju National University College of Medicine, Jeju, Korea
ORIGINAL ARTICLE J Clin Neurol 2011;7:210-214 Print ISSN 1738-6586 / On-line ISSN 2005-5013 http://dx.doi.org/10.3988/jcn.2011.7.4.210 Open Access Effects of Lacunar Infarctions on Cognitive Impairment
More informationEssentials of Clinical MR, 2 nd edition. 14. Ischemia and Infarction II
14. Ischemia and Infarction II Lacunar infarcts are small deep parenchymal lesions involving the basal ganglia, internal capsule, thalamus, and brainstem. The vascular supply of these areas includes the
More informationHelpful Information for evaluation of new neurological symptoms in patients receiving TYSABRI
Helpful Information for evaluation of new neurological symptoms in patients receiving TYSABRI This information is provided as an educational resource for healthcare providers and should be considered current
More informationDementia. Stephen S. Flitman, MD Medical Director 21st Century Neurology
Dementia Stephen S. Flitman, MD Medical Director 21st Century Neurology www.neurozone.org Dementia is a syndrome Progressive memory loss, plus Progressive loss of one or more cognitive functions: Language
More informationStroke mimics. Case 1. Acute cases. History. 43 year old healthy male Shortly after awakening developed:
Stroke mimics Acute cases Gothenburg 21. may 2007 History Case 1 43 year old healthy male Shortly after awakening developed: Left-sided lower facial weakness Left-sided arm paralysis and weakness in leg
More informationDiffusion Magnetic Resonance Histograms as a Surrogate Marker and Predictor of Disease Progression in CADASIL A Two-Year Follow-Up Study
Diffusion Magnetic Resonance Histograms as a Surrogate Marker and Predictor of Disease Progression in CADASIL A Two-Year Follow-Up Study Markus Holtmannspötter, MD*; Nils Peters, MD*; Christian Opherk,
More informationInjuries of neural tracts in a patient with CADASIL: a diffusion tensor imaging study
Jang and Seo BMC Neurology (2015) 15:176 DOI 10.1186/s12883-015-0434-x CASE REPORT Open Access Injuries of neural tracts in a patient with CADASIL: a diffusion tensor imaging study Sung Ho Jang and You
More information[(PHY-3a) Initials of MD reviewing films] [(PHY-3b) Initials of 2 nd opinion MD]
2015 PHYSICIAN SIGN-OFF (1) STUDY NO (PHY-1) CASE, PER PHYSICIAN REVIEW 1=yes 2=no [strictly meets case definition] (PHY-1a) CASE, IN PHYSICIAN S OPINION 1=yes 2=no (PHY-2) (PHY-3) [based on all available
More informationCerebrovascular Disorders. Blood, Brain, and Energy. Blood Supply to the Brain 2/14/11
Cerebrovascular Disorders Blood, Brain, and Energy 20% of body s oxygen usage No oxygen/glucose reserves Hypoxia - reduced oxygen Anoxia - Absence of oxygen supply Cell death can occur in as little as
More information2002 CADASIL Newsletters The unofficial CADASIL newsletter Issue VIIII - June 2002
2002-2003 NEWSLETTERS 2002 CADASIL Newsletters The unofficial CADASIL newsletter Issue VIIII - June 2002 CADASIL - Cerebral Autosomal dominant arteriopathy with sub cortical infarctions and Leukoencephalopathy
More informationDepartment of Neurology, The Affiliated Provincial Hospital of Anhui Medical University, Hefei , China; 2
Int J Clin Exp Pathol 2015;8(2):1321-1327 www.ijcep.com /ISSN:1936-2625/IJCEP0004459 Original Article Two novel mutations in NOTCH3 gene causes cerebral autosomal dominant arteriopathy with subcritical
More informationHYPERTENSIVE ENCEPHALOPATHY
HYPERTENSIVE ENCEPHALOPATHY Reversible posterior leukoencephalopathy syndrome Cause Renal disease Pheochromocytoma Disseminated vasculitis Eclampsia Acute toxemia Medications & illicit drugs (cocaine)
More informationCase Report A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles
Case eports in Neurological Medicine Volume 2015, Article ID 431461, 6 pages http://dx.doi.org/10.1155/2015/431461 Case eport A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and
More informationPRESERVE: How intensively should we treat blood pressure in established cerebral small vessel disease? Guide to assessing MRI scans
PRESERVE: How intensively should we treat blood pressure in established cerebral small vessel disease? Guide to assessing MRI scans Inclusion Criteria Clinical syndrome Patients must have clinical evidence
More informationFamilial Arteriopathic Leukoencephalopathy: Imaging and Neuropathologic Findings
AJNR Am J Neuroradiol 19:469 475, March 1998 Familial Arteriopathic Leukoencephalopathy: Imaging and Neuropathologic Findings Peter Glusker, Dikran S. Horoupian, and Barton Lane Summary: We present the
More informationCharacterizing cerebral small vessel disease with a focus on CADASIL as a genetic model -an MRI based approach
Characterizing cerebral small vessel disease with a focus on CADASIL as a genetic model -an MRI based approach PhD thesis Bence Barna Gunda Semmelweis University János Szentágothai School of Neurosciences
More informationConsiderations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant
Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant Anna Bersano, MD, PhD a,b Michela Ranieri, MD c Andrea Ciammola, MD d Claudia
More informationNeuropathology lecture series. III. Neuropathology of Cerebrovascular Disease. Physiology of cerebral blood flow
Neuropathology lecture series III. Neuropathology of Cerebrovascular Disease Physiology of cerebral blood flow Brain makes up only 2% of body weight Percentage of cardiac output: 15-20% Percentage of O
More informationMRI of Pathological Aging Brain
MRI of Pathological Aging Brain Yukio Miki Department of Radiology, Osaka City University A variety of pathological changes occur in the brain with aging, and many of these changes can be identified by
More informationSubcortical lacunar lesions: an MR imaging fi nding in patients with CADASIL T H R E E
Subcortical lacunar lesions: an MR imaging fi nding in patients with CADASIL T H R E E Subcortical lacunar lesions: an MR imaging finding in patients with CADASIL R. van den Boom S.A.J. Lesnik Oberstein
More informationNicolas Bianchi M.D. May 15th, 2012
Nicolas Bianchi M.D. May 15th, 2012 New concepts in TIA Differential Diagnosis Stroke Syndromes To learn the new definitions and concepts on TIA as a condition of high risk for stroke. To recognize the
More informationADULT-ONSET (INFRATENTORIAL) LEUKOENCEPHALOPATHY as PRESENTING MANIFESTATION of ERDHEIM-CHESTER DISEASE
ADULT-ONSET (INFRATENTORIAL) LEUKOENCEPHALOPATHY as PRESENTING MANIFESTATION of ERDHEIM-CHESTER SEASE GIULIO CAVALLI, M.D. INTERNAL MECINE AND CLINICAL IMMUNOLOGY IRCCS SAN RAFFAELE HOSPITAL VITA-SALUTE
More informationFILE / PERIVENTRICULAR MICROVASCULAR ISCHEMIC CHANGES EBOOK
07 June, 2018 FILE / PERIVENTRICULAR MICROVASCULAR ISCHEMIC CHANGES EBOOK Document Filetype: PDF 365.11 KB 0 FILE / PERIVENTRICULAR MICROVASCULAR ISCHEMIC CHANGES EBOOK I recently had a MRI last week with
More informationORIGINAL COMMUNICATION. Abstract Reduced cerebrovascular reactivity has been reported in patients with cerebral autosomal
J Neurol (2005) 252 : 163 167 DOI 10.1007/s00415-005-0624-3 ORIGINAL COMMUNICATION Sumeet Singhal Hugh S. Markus Cerebrovascular reactivity and dynamic autoregulation in nondemented patients with CADASIL
More informationAcute stroke. Ischaemic stroke. Characteristics. Temporal classification. Clinical features. Interpretation of Emergency Head CT
Ischaemic stroke Characteristics Stroke is the third most common cause of death in the UK, and the leading cause of disability. 80% of strokes are ischaemic Large vessel occlusive atheromatous disease
More informationCase 9511 Hypertensive microangiopathy
Case 9511 Hypertensive microangiopathy Schepers S, Barthels C Section: Neuroradiology Published: 2011, Nov. 3 Patient: 67 year(s), male Authors' Institution Department of Radiology, Jessa ziekenhuis campus
More informationCT and MR findings of systemic lupus erythematosus involving the brain: Differential diagnosis based on lesion distribution
CT and MR findings of systemic lupus erythematosus involving the brain: Differential diagnosis based on lesion distribution Poster No.: C-2723 Congress: ECR 2010 Type: Educational Exhibit Topic: Neuro
More informationCommon Versus Uncommon Causes of Dementia
Edith Cowan University Research Online ECU Publications Pre. 2011 2005 Common Versus Uncommon Causes of Dementia Nicola Lautenschlager University of Western Australia Ralph Martins Edith Cowan University
More informationStroke School for Internists Part 1
Stroke School for Internists Part 1 November 4, 2017 Dr. Albert Jin Dr. Gurpreet Jaswal Disclosures I receive a stipend for my role as Medical Director of the Stroke Network of SEO I have no commercial
More informationOn-line Table 1: Dementia diagnoses and related ICD codes for the diagnostic groups a
On-line Table 1: diagnoses and related ICD codes for the diagnostic groups a Diagnosis (N = 1504) ICD Code Patients Scanned with 3T; SWI (%) Subjective cognitive impairment (n 385) Z03.2A, Z03.3, and R41.8A
More informationPatient with Daily Headache NTERNATIONAL CLASSIFICATION HEADACHE DISORDERS. R. Allan Purdy, MD, FRCPC,FACP. Professor of Medicine (Neurology)
Patient with Daily Headache NTERNATIONAL CLASSIFICATION of R. Allan Purdy, MD, FRCPC,FACP HEADACHE DISORDERS Professor of Medicine (Neurology) 2nd edition (ICHD-II) Learning Issues Headaches in the elderly
More informationVascular Malformations of the Brain. William A. Cox, M.D. Forensic Pathologist/Neuropathologist. September 8, 2014
Vascular Malformations of the Brain William A. Cox, M.D. Forensic Pathologist/Neuropathologist September 8, 2014 Vascular malformations of the brain are classified into four principal groups: arteriovenous
More informationSawada J, Orimoto R, Misu T, Katayama T, Aizawa H, Asanome A, Takahashi K, Saito T, Anei R, Kamada K, Miyokawa N, Takahashi T, Fujihara K, Hasebe N.
Mult Scler (2014.9) 20(10):1413-1416. A case of pathology-proven neuromyelitis optica spectrum disorder with Sjögren syndrome manifesting aphasia and apraxia due to a localized cerebral white matter lesion.
More information3.02 Understand the functions and disorders of the nervous system Understand the functions and disorders of the nervous system
3.02 Understand the functions and disorders of the nervous system 1 3.02 Essential Questions What are the functions of the nervous system? What are some disorders of the nervous system? How are nervous
More informationIt s Always a Stroke; Except For When It s Not..
It s Always a Stroke; Except For When It s Not.. TREVOR PHINNEY, D.O. Disclosures No Relevant Disclosures 1 Objectives Discuss variables of differential diagnosis for stroke Review when to TPA and when
More informationDiffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR Am J Neuroradiol 25:1269 1273, August 2004 Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy R. Nuri Sener BACKGROUND AND PURPOSE: Neuroaxonal dystrophy is a rare progressive
More informationBiology 3201 Nervous System # 7: Nervous System Disorders
Biology 3201 Nervous System # 7: Nervous System Disorders Alzheimer's Disease first identified by German physician, Alois Alzheimer, in 1906 most common neurodegenerative disease two thirds of cases of
More informationStroke/TIA. Tom Bedwell
Stroke/TIA Tom Bedwell tab1g11@soton.ac.uk The Plan Definitions Anatomy Recap Aetiology Pathology Syndromes Brocas / Wernickes Investigations Management Prevention & Prognosis TIAs Key Definitions Transient
More informationClinical Research on Treating Senile Dementia by Combining Acupuncture with Acupoint-Injection
Clinical Research on Treating Senile Dementia by Combining Acupuncture with Acupoint-Injection Yemeng Chen, M.D. Acupuncture Department, Huashan Hospital Shanghai Medical University, Shanghai 20040, P.
More informationLacunar Infarction and Small Vessel Disease: Pathology and Pathophysiology
Lacunar Infarction and Small Vessel Disease: Pathology and Pathophysiology The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters. Citation
More informationToxins in Brain! Magnetic Resonance (MR) Imaging of Toxic Leukoencephalopathy A Pictorial Essay
Signature: Pol J Radiol, 2017; 82: 311-319 DOI: 10.12659/PJR.901791 REVIEW ARTICLE Received: 2016.10.02 Accepted: 2016.10.11 Published: 2017.06.13 Authors Contribution: A Study Design B Data Collection
More informationbrain MRI for neuropsychiatrists: what do you need to know
brain MRI for neuropsychiatrists: what do you need to know Christoforos Stoupis, MD, PhD Department of Radiology, Spital Maennedorf, Zurich & Inselspital, University of Bern, Switzerland c.stoupis@spitalmaennedorf.ch
More information! slow, progressive, permanent loss of neurologic function.
UBC ! slow, progressive, permanent loss of neurologic function.! cause unknown.! sporadic, familial or inherited.! degeneration of specific brain region! clinical syndrome.! pathology: abnormal accumulation
More informationGenotype Phenotype relation in portuguese patients with NOTCH3 mutation
2013/2014 Tiago Augusto Paiva de Magalhães Genotype Phenotype relation in portuguese patients with NOTCH3 mutation março, 2014 Tiago Augusto Paiva de Magalhães Genotype Phenotype relation in portuguese
More informationLesson 14. The Nervous System. Introduction to Life Processes - SCI 102 1
Lesson 14 The Nervous System Introduction to Life Processes - SCI 102 1 Structures and Functions of Nerve Cells The nervous system has two principal cell types: Neurons (nerve cells) Glia The functions
More informationThe influence of genetic and cardiovascular risk factors on the CADASIL phenotype
Brain Advance Access published June 30, 2004 DOI: 10.1093/brain/awh223 Brain Page 1 of 8 The influence of genetic and cardiovascular risk factors on the CADASIL phenotype Sumeet Singhal, 1 Steve Bevan,
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Amyotrophic Lateral Sclerosis 10 (ALS10) and Amyotrophic Lateral Sclerosis 6 (ALS6)
More informationCT and MR Imaging in Young Stroke Patients
CT and MR Imaging in Young Stroke Patients Ashfaq A. Razzaq,Behram A. Khan,Shahid Baig ( Department of Neurology, Aga Khan University Hospital, Karachi. ) Abstract Pages with reference to book, From 66
More informationDownloaded from Binswanger s Disease. Binswanger s Disease
Medrech ISSN No. 2394-3971 Review Article Binswanger s Disease Ramoju Kishore Kumar 1*, N. Sri Ram 2, I. Sree Harsha 3. 1,3 Pharm. D 3 rd Year, Holy Mary College of Pharmacy, 2 Associate professor, Holy
More informationYong-Bum Kim, M.D., Kwang-Ho Lee, M.D., Soo-Joo Lee, M.D., Duk-L. Na, M.D., Soo-Jin Cho, M.D., Chin-Sang Chung, M.D., Won-Yong Lee M.D.
Usefulness of Apolipoprotein E 4 and Distribution of Petechial Hemorrhages in Differentiating between Cerebral Amyloid Angiopathy and Hypertensive Intracerebral Hemorrhage Yong-Bum Kim, M.D., Kwang-Ho
More informationPSYC& 100: Biological Psychology (Lilienfeld Chap 3) 1
PSYC& 100: Biological Psychology (Lilienfeld Chap 3) 1 1 What is a neuron? 2 Name and describe the functions of the three main parts of the neuron. 3 What do glial cells do? 4 Describe the three basic
More informationLacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL
Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL Michael K. Liem, MD; Jeroen van der Grond, PhD; Joost Haan, MD, PhD; Rivka van den Boom, MD, PhD; Michel D. Ferrari, MD, PhD;
More informationSeptember 26 28, 2013 Westin Tampa Harbour Island. Co-sponsored by
September 26 28, 2013 Westin Tampa Harbour Island Co-sponsored by From Brains at Risk to Cognitive Dysfunction: The Role of Vascular Pathology Ralph Sacco, MD, MS, FAHA, FAAN Miller School of Medicine
More informationUnited Council for Neurologic Subspecialties Geriatric Neurology Written Examination Content Outline
United Council for Neurologic Subspecialties Geriatric Neurology Written Examination Content Outline REV 3/24/09 The UCNS Geriatric Neurology examination was established to determine the level of competence
More informationNervous System: Part IV The Central Nervous System The Brain
Nervous System: Part IV The Central Nervous System The Brain Can you survive when part of your brain is destroyed? 2 Essential Knowledge 3.D.2 2. Cells communicate with each other through direct contact
More informationUniversity of Bristol - Explore Bristol Research
Skrobot, O. A., O'Brien, J., Black, S., Chen, C., DeCarli, C., Erkinjuntti, T.,... Kehoe, P. G. (2016). The vascular impairment of cognition classification consensus study. Alzheimer's and Dementia. DOI:
More informationMRI OF THE THALAMUS. Mohammed J. Zafar, MD, FAAN Kalamazoo, MI
1 MRI OF THE THALAMUS Mohammed J. Zafar, MD, FAAN Kalamazoo, MI Objectives: The thalamic nuclei can be involved in a wide variety of conditions. A systematic imaging approach would be useful for narrowing
More informationTest 3. Module 5 & 6
Test 3 Module 5 & 6 Questions from the GVLS website Define the terms: Muscle- Involuntary- Voluntary- Striated- Smooth- Cardiac- Sarcomere - Actin - Myosin - Myofibril - Muscle Contraction - A-band - I-band
More informationMedical Neuroscience Tutorial Notes
Medical Neuroscience Tutorial Notes Blood Supply to the Brain MAP TO NEUROSCIENCE CORE CONCEPTS 1 NCC1. The brain is the body's most complex organ. LEARNING OBJECTIVES After study of the assigned learning
More informationConfluent Thalamic Hyperintensities in CADASIL
Original Paper Cerebrovasc Dis 2010;30:308 313 DOI: 10.1159/000319607 Received: February 5, 2010 Accepted: May 14, 2010 Published online: July 28, 2010 Confluent Thalamic Hyperintensities in CADASIL Mathilde
More informationTOXIC AND NUTRITIONAL DISORDER MODULE
TOXIC AND NUTRITIONAL DISORDER MODULE Objectives: For each of the following entities the student should be able to: 1. Describe the etiology/pathogenesis and/or pathophysiology, gross and microscopic morphology
More informationBy Mr. Danilo Villar Rogayan Jr.
The Nervous System By Mr. Danilo Villar Rogayan Jr. Instructor I, Department of Natural Sciences College of Agriculture & Veterinary Medicine RMTU San Marcelino Introduction Highly complex system of two
More informationA Two-Year Clinical Follow-Up Study in 80 CADASIL Subjects. Progression Patterns and Implications for Clinical Trials
A Two-Year Clinical Follow-Up Study in 80 CADASIL Subjects Progression Patterns and Implications for Clinical Trials Nils Peters, MD; Jürgen Herzog, MD; Christian Opherk, MD; Martin Dichgans, MD Background
More informationRole of MRI in acute disseminated encephalomyelitis
Original Research Article Role of MRI in acute disseminated encephalomyelitis Shashvat Modiya 1*, Jayesh Shah 2, C. Raychaudhuri 3 1 1 st year resident, 2 Associate Professor, 3 HOD and Professor Department
More informationTable 1: Baseline characteristics of 108 isolated vertigo patients Clinical or laboratory variable n (%) Female 67 (62%)
4. Results The 108 patients who fulfilled the inclusion and exclusion criteria were analyzed. Baseline demographic and epidemiological characteristics of the patients are given in Table 1. Table 1: Baseline
More informationPARA210 SUMMARY Hyperglycaemia (DKA & HHS) Brain & Nervous System Anatomy & Physiology Degenerative Neurological Disorders
PARA210 SUMMARY Page Topic 01-03 Diabetes Mellitus 04-05 Hyperglycaemia (DKA & HHS) 06-13 Toxicology 14-18 12 Lead ECG 19-21 Brain & Nervous System Anatomy & Physiology 22-24 Degenerative Neurological
More information2018 The Author(s). This open access article is distributed under a Creative Commons Attribution (CC-BY) 4.0 license.
REVIEW ARTICLE Inherited Cerebral Small Vessel Disease, Vascular Cognitive Impairment, Classical Cardiovascular Risk Factors, and Preventive Measures - Lessons from Cerebral Autosomal Dominant Arteriopathy
More informationThe NIHSS score is 4 (considering 2 pts for the ataxia involving upper and lower limbs.
Neuroscience case 5 1. Speech comprehension, ability to speak, and word use were normal in Mr. Washburn, indicating that aphasia (cortical language problem) was not involved. However, he did have a problem
More informationNEURORADIOLOGY-NEUROPATHOLOGY CONFERENCE
THE UNIVERSITY OF NORTH CAROLINA at CHAPEL HILL SEPTEMBER 2013 NEURORADIOLOGY-NEUROPATHOLOGY CONFERENCE Claudia da Costa Leite, MD, PhD Thomas Bouldin, MD CASE 1 6 y-o female with headaches and vomiting
More information1 MS Lesions in T2-Weighted Images
1 MS Lesions in T2-Weighted Images M.A. Sahraian, E.-W. Radue 1.1 Introduction Multiple hyperintense lesions on T2- and PDweighted sequences are the characteristic magnetic resonance imaging (MRI) appearance
More information62 yo F, RHD Epilepsy onset: 44 yo Seizure type: 1) Dyscognitive seizure 2) Somatosensory aura (abnormal feeling at both feet) Seizures disappeared
62 yo F, RHD Epilepsy onset: 44 yo Seizure type: 1) Dyscognitive seizure 2) Somatosensory aura (abnormal feeling at both feet) Seizures disappeared since age 56 years Seizure period: 12 years (44 56 yrs)
More informationSilent Cerebral Microbleeds on T2*-Weighted MRI. Correlation with Stroke Subtype, Stroke Recurrence, and Leukoaraiosis
Silent Cerebral Microbleeds on T2*-Weighted MRI Correlation with Stroke Subtype, Stroke Recurrence, and Leukoaraiosis Hiroyuki Kato, MD, PhD; Masahiro Izumiyama, MD, PhD; Kimiaki Izumiyama, MD, PhD; Akira
More informationAttention Deficit Hyperactivity Disorder: Module 2
Attention Deficit Hyperactivity Disorder: Module 2 Programmed Learning Forms Handbook The information in this training module was taken from an online article by the National Institute of Mental Health.
More informationCover Page. The handle holds various files of this Leiden University dissertation.
Cover Page The handle http://hdl.handle.net/1887/43112 holds various files of this Leiden University dissertation. Author: Rutten, J.W. Title: NOTCH3 cysteine correction : developing a rational therapeutic
More informationFamilial dystonia with cerebral calcification
Familial dystonia with cerebral calcification case report and genetic update M. Signaevski, A.K. Wszolek, A.J. Stoessel, R. Rademakers, and I.R. Mackenzie Vancouver General Hospital, BC, Canada Mayo Clinic
More informationCerebral autosomal-dominant arteriopathy with subcortical
Extensive White Matter Hyperintensities May Increase Brain Volume in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Ming Yao, MD; Eric Jouvent, MD, PhD; Marco
More informationA Neuropsychiatric, Neuroradiological, and Neuropsychological Profile of a Cohort of Patients with Vascular Dementia
A Neuropsychiatric, Neuroradiological, and Neuropsychological Profile of a Cohort of Patients with Vascular Dementia Moises Gaviria, MD University of Illinois at Chicago Advocate Christ Medical Center
More informationUnit 3: The Biological Bases of Behaviour
Unit 3: The Biological Bases of Behaviour Section 1: Communication in the Nervous System Section 2: Organization in the Nervous System Section 3: Researching the Brain Section 4: The Brain Section 5: Cerebral
More information