Peripheral neuropathy in merosin-negative congenital muscular dystrophy
|
|
- Britney Robertson
- 6 years ago
- Views:
Transcription
1 ORIGINAL ARTICLE Journal of Pediatric Neurology 2004; 2(4): Peripheral neuropathy in merosin-negative congenital muscular dystrophy H. Jacobus Gilhuis 1, Oebele F. Brouwer 2, Aad Verrips 3, Machiel J. Zwarts 1 1 Department of Neurology and Clinical Neurophysiology, Neuromuscular Centre Nijmegen, University Medical Centre St Radboud, HB Nijmegen, The Netherlands 2 Department of Neurology, University Hospital Groningen, RB Groningen, The Netherlands 3 Department of Neurology, Canisius-Wilhelmina Hospital, GS Nijmegen The Netherlands Abstract Peripheral neuropathy in patients with merosin-negative congenital muscular dystrophy (MN-CMD) has been sporadically investigated and has been considered to be motor and demyelinating in nature on the basis of nerve conduction studies. We performed neurophysiologic studies in 12 children with MN- CMD to establish the spectrum and evolution of peripheral nervous system involvement. In our patients, nerve conduction studies for both motor and sensory nerves were near normal in the children younger than six months and abnormal in the older children. The older children had the relatively slowest nerve conduction velocities suggesting a progressive, age-related dysmyelinating neuropathy. We hypothesize that the findings are due to a myelination arrest as a result of insufficient synthesis and maintenance of the peripheral myelin sheath. (J Pediatr Neurol 2004; 2(4): ). Key words: merosin-negative congenital muscular dystrophy, peripheral nervous system. Introduction The congenital muscular dystrophies (CMDs) form a heterogeneous group of autosomal recessive Correspondence: H. Jacobus Gilhuis, M.D., Neuromuscular Centre Nijmegen, Department of Neurology and Clinical Neurophysiology, University Medical Centre St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands. Tel: , fax: h.gilhuis@neuro.umcn.nl Received: March 22, Revised: June 01, Accepted: June 03, disorders clinically characterized by generalized muscle weakness with an onset in early infancy, often with congenital contractures. Muscle biopsy shows a dystrophic pattern (1). CMDs without severe mental retardation or malformations of the brain are named pure or classical forms of CMD (1). Merosin is a heterotrimeric glycoprotein consisting of a heavy chain (laminin α2) and two light chains (laminin β1 and γ1). The discovery of a deficiency in the laminin α2 chain of merosin, an extracellular matrix protein, separated classical CMD into merosin-positive and merosin-negative congenital muscular dystrophy (MN-CMD) (2). MN-CMD is caused by mutations in the LAMA2 gene located on chromosome 6q22-23, encoding for the laminin α2 chain of merosin (3). Laminin α2 is expressed in skeletal and cardiac muscles, pancreas, lungs, spleen, kidneys, adrenal glands, skin, testes, peripheral nerves and brain (4-6). In peripheral nerves, merosin is expressed in the basal lamina of Schwann cells whereas its receptors are expressed in the basement membrane of Schwann cells around myelinated axons (4). Clinical manifestations of MN-CMD occur at birth, and consist of severe muscle weakness, markedly delayed motor milestones (more severe than in merosin-positive CMD), and early contractures, often associated with joint deformities. Blood tests reveal elevated serum creatine kinase (2,3,7,8). Peripheral neuropathy has been reported in most, but not all patients with MN-CMD and has been considered to be motor and demyelinating in nature on the basis of nerve conduction studies (9,10). In this study we performed neurophysiologic studies in 12 children with MN-CMD to establish the spectrum and evolution of peripheral nervous system involvement. Materials and Methods From 1993 till 2003, 12 MN-CMD patients were identified in four participating hospitals in the
2 214 Table 1. Clinical features of 12 MN-CMD patients Parameters Patients Sex M M F F F M M M F F M M Age at nerve conduction studies (years) 7 4 Joint contractures Consanguinity M: Male; F: Female. Netherlands. The methodology for preparation of histologic sections and immunostaining is described elsewhere (11). All children were found to be negative for merosin in quadriceps muscle on immunostaining (mouse monoclonal antibodies clone MER 3/22 B2 or clone 5H2 on muscle biopsy). All patients showed severe muscle weakness, were wheelchair bound (if older than 1 year), and had an estimated IQ of between 70 and 90. Children older than 6 months had cerebral white matter abnormalities. Nerve conduction studies were repeated once in two children and twice in two other children. Informed consent was obtained for the repeated measurements (Tables 1 and 2). During nerve conduction studies, skin temperature was maintained at a minimum of 30 ºC. Some of the data of six of the children were used in a previous study (12). Results We performed 18 neurophysiologic studies in 12 children to establish the spectrum and evolution of MN-CMD associated peripheral nervous system involvement. Sensory and motor nerve conduction velocities and amplitudes of the peroneal nerve (only motor nerve conduction), median nerve, and sural nerve were compared with normal values obtained from the literature (Table 2) (13). Nerve conduction velocities were normal in the children younger than six months, and abnormal in the older children. The gradual increase in nerve conduction velocities in our patients lagged behind the agedependent increase of conduction velocities seen in healthy children. The amplitudes of the motor studies were low for both peroneal and median nerve without a clear age-related change. The median sensory amplitudes were normal regardless of patient age. The sural sensory amplitudes were (near) normal when compared to normal confidence intervals or could not be measured (Figure 1). The oldest children had the relatively slowest nerve conduction velocities. Repeated nerve conduction studies in four individual children over the years showed a similar pattern (Table 2). There were no sensory deficits in the three oldest children, in the remaining younger children, no sensory data could be obtained because of young age and low IQ. Discussion We performed nerve conduction studies on 12 MN-CMD children and found nerve conduction velocities were near normal in the children younger than six months and abnormal in the older children. The older children had the relatively slowest nerve conduction velocities as compared to healthy children. The gap in nerve conduction velocities between patients and healthy children increased with time. Repeated nerve conduction studies in individual children over the years showed a similar pattern. The amplitudes in the motor nerve studies differed widely in patients and did not show a clear age-related decrease. This decrease in amplitudes is probably due to secondary axonal injury and loss of muscle tissue due to the myopathy. Sensory nerve studies (excluding the influence of the myopathy) of the median nerve showed conduction velocities slowing with age, but no decrease of amplitudes. This strongly suggests that the neuropathy is due to a myelination problem, and not to axonal degeneration. In case of the sural nerve studies, all amplitudes were near normal or could not be measured, probably due to secondary axonal injury. Shorer et al. (10) found mildly to significantly reduced patients, which they thought was compatible with a demyelinating motor neuropathy. In a nerve conduction study of 2 siblings with MN-CMD (aged 5 and 17 months), the amplitudes were reduced in both children with near normal conduction velocities (14). Mercuri et al. (9) reported a slowing in nerve conduction velocity in a sequential neurophysiological study in one patient, and suggested a failure of the physiological maturation process of myelination of the peripheral nervous system. Di Muzio et al. (15) found reduction of large myelinated fibers, short internodes, enlarged nodes, excessive variability of myelin thickness with no evidence of segmental demyelination in a nerve biopsy of a patient with MN-CMD and slow motor
3 215 Table 2. Nerve conduction studies of the 12 MN-CMD patients Patient Age Peroneal nerve Median nerve Sural nerve No (years) Motor velocity Sensory velocity Motor velocity Sensory velocity (reference values) a (reference values) a (reference values) a (reference values) a Amplitude Conduction Amplitude Conduction Amplitude Conduction Amplitude Conduction (mv) velocity (m/s) (uv) velocity (m/s) (mv) velocity (m/s) (uv) velocity (m/s) (5.2 ± 2.4) 25 (35 ± 4.0) 12.2 (15.9 ± 5.2) 19 (36 ± 6.6) ND ND ND ND (7.0 ± 4.8) 34 (56 ± 5.0) ND ND ND ND 17.5 (22.7 ± 5.4) 33 (53 ±3.0) (8.2 ± 4.2) 40 (57 ± 4.5) 36.7 (26.7 ± 9.4) 41 (54 ± 3.3) 3.8 (12.4 ± 4.8) 41 (57 ± 3.4) 13.1 (26.8 ± 6.6) 44 (54 ± 4.2) (5.2 ± 2.4) 34 (35 ± 4.0) 12.7 (15.9 ± 5.2) 38 (36 ± 6.6) 1.3 (7.4 ± 3.2) 41 (34 ± 6.6) 8.0 (11.7 ± 3.6) 33 (35 ± 5.4) (5.8 ± 2.5) 38 (51 ±3.0) ND ND ND ND (24.3 ± 5.5) 53 (49.5 ± 3.3) 2.0 (9.6 ± 4.4) 50 (54 ± 5.3) (5.2 ± 2.4) 27 (35 ± 4.0) 8.5 (15.9 ± 5.2) 32 (36 ± 6.6) 8.5 (7.4 ± 3.2) 32 (34 ± 6.6) ND ND (5.8 ± 2.5) 43 (51 ± 3.0) ND ND ND ND ND ND (8.2 ± 4.2) 34 (57 ± 4.5) 43.0 (26.7 ± 9.4) 32 (54 ± 3.3) ND ND 16.6 (26.8 ± 6.6) 36 (54 ± 4.2) (8.2 ± 4.2) 23 (57 ± 4.5) 24.6 (26.7 ± 9.4) 37 (54 ± 3.3) 1.2 (12.4 ± 4.8) 36 (57 ± 3.4) (8.2 ± 4.2) 41 (57 ± 4.5) ND ND ND ND 7.0 (26.8 ± 6.6) 38 (54 ± 4.2) ND 37 (35 ± 4.0) ND ND ND 26 (34 ± 6.6) ND ND (5.2 ± 2.4) 30 (35 ± 4.0) ND ND ND ND ND ND (6.1 ± 3.0) 48 (56 ± 4.5) 3.9 (24.3 ± 5.5) 31 (49.5 ± 3.3) 3.9 (9.6 ± 4.4) 44 (54 ± 5.3) 27.0 (23.3 ± 6.7) ND ND ND 16.0 (15.9 ± 5.2) 26 (36 ± 6.6) 6.5 (7.4 ± 3.2) 30 (34 ± 6.6) ND ND (5.2 ± 2.4) 38 (35 ± 4.0) ND ND 5.0 (7.4 ± 3.2) 32 (34 ± 6.6) ND ND (5.2 ± 2.4) 31 (35 ± 4.0) 4.0 (15.9 ± 5.2) 34 (36 ± 6.6) ND 24 (34 ± 6.6) ND ND (6.1 ± 3.0) 37 (56 ± 4.5) ND 50 (49.5 ± 3.3) 2.8 (9.6 ± 4.4) 44 (54 ± 5.3) 40.0 (23.3 ± 6.7) 38 (52.6 ± 2.3) a mean ± SD, from Parano et al. (13); ND: Not determined.
4 216 Figure 1. Normal range (dotted lines), average (straight line) and results of the 12 MN-CMD patients, of motor nerve conduction velocity (m/s), SNAPs (uv) and CMAPs (mv) for the median nerve, peroneal nerve and sural nerve, plotted against age (note that the X-axis is not linear). Normal values adopted from Parano et al. (13). and sensory nerve conductions. In another case of a 19-year-old girl with only mildly reduced laminin α2 chain in muscle but virtually absent in peripheral nerve, nerve conductions were impaired. Sural nerve biopsy fibers showed a globular hypermyelination which the authors attributed to alteration of the feedback control during the process of nerve fiber myelination (16). In humans, maturation of myelination of the peripheral nervous system begins during the fourth month of fetal life and it is completed at around five years of age (17). These changes are reflected in the normal increase of conduction velocities during the first five years (Figure 1). In peripheral nerves, Schwann cells cover axons. Merosin is present in the basement membrane of Schwann cells around myelinated axons, and is undetectable in unmyelinated fibers, suggesting that laminin α2 may be important for fiber myelination (18). Merosin is supposed to promote Schwann cell migration and neurite outgrowth, and upregulation of laminin α2 has been demonstrated during peripheral nerve development (19-21). In the peripheral nervous system, Schwann cells normally deposit a basal
5 lamina consisting of laminin among other things. The development of a basal lamina correlates with the Schwann cells ability to myelinate axons. For the synthesis and the maintenance of myelin sheath integrity, the expression of laminin α2 receptors like integrins and dystroglycan and the cellsurface bound enzyme lipoprotein lipase (LPL) are essential (17-23). Expression of active cell-surface LPL depends on sufficient extracellular matrix development in order to anchor the LPL molecules effectively (24). Merosin deficiency, resulting in an abnormal basal lamina construction and in a deficient extracellular matrix composition, may thus lead to an arrest of myelin formation of both central and peripheral nervous system. The inability of Schwann cells to myelinate axons sufficiently may be due to the loss of LPL activity, which is necessary to maintain myelin sheath integrity, and for the myelin synthesis, as LPL only works in an intact basal membrane (23,24). Animal studies done so far are not consistent with findings in humans. In the dy/dy dystrophic mouse, an animal model for congenital muscular dystrophy, laminin α2 is deficient in peripheral nerves. Their peripheral nervous system is characterized by naked axons in the nerve roots and multiple discontinuities in the basal lamina (25-28). However, another study suggested that the basal lamina is not an absolute requirement for myelination and that laminins α4 and 5 may play a critcal role in myelination instead of laminin α2 (29). A study of laminin chains in rats suggested that laminin α2 plays an important role in postnatal nerve development and axonal regeneration after injury (30). MN-CMD has also been reported in 2 cats. One of the cats which was examined in detail had decreased motor nerve conduction velocities. Biopsy of the nerves showed generalized Schwann cell abnormalities and various stages of demyelination (31). In addition, deficiencies of ligands that interact with laminin α2 such as dystroglycans and integrins also play a role in myelination of peripheral nerves (32,33). It was postulated that β1 integrin participates in the deposition of the immature basal lamina in premyelinating Schwann cells, followed by the expression of α-dystroglycan, β4 and β1 integrin during maturation of the basal lamina in myelinating Schwann cells (22). Shorer et al. (10) compared peripheral nerve function between merosin-positive CMD and MN-CMD children and found that all merosinpositive CMD had normal results, whereas 8 of 10 MN-CMD children had reduced nerve conduction velocities. Analysis of the two cases of MN-CMD with normal nerve conduction showed that they produced merosin in reduced amounts, in contrast to the others who had no traces of merosin in their biopsies (10). This confirms that neuropathy is a feature of MN-CMD and may help to differentiate between MN-CMD and other muscular dystrophies. None of our patients achieved ambulation. MN- CMD patients have a more severe muscle weakness when compared with merosin-positive patients. It is unclear if the peripheral nerve involvement contributes to the severity of the clinical condition, as the patients already suffer from a severe myopathy. There were no sensory deficits in the three eldest children, in the other children no gross sensory deficits were found. In summary, we found a pattern of relative age-dependent nerve conduction velocitiy slowing in MN-CMD. This feature, combined with recent findings in biopsies, suggests a disruption in the physiological maturation process of the myelination of both motor and sensory nerves. Acknowledgements We thank Dr. R. Ten Houten and Dr K.P.J. Braun for their cooperation, and Dr. J. Pomp and Dr. H.J. ter Laak for their comments. References 1. Dubowitz V. 22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, May Neuromuscul Disord 1994; 4: Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317: Hillaire D, Leclerc A, Faure S, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: Leivo I, Engvall E. Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Natl Acad Sci U S A 1988; 85: Villanova M, Malandrini A, Toti P, et al. Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol 1996; 28: Vuolteenaho R, Nissinen M, Sainio K, et al. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994; 124: Fardeau M, Tome FM, Helbling-Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis. Rev Neurol 1996; 152: (in French). 8. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromuscul Disord 1995; 5: Mercuri E, Pennock J, Goodwin F, et al. Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient 217
6 218 congenital muscular dystrophy. Neuromuscul Disord 1996; 6: Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. Demyelinating peripheral neuropathy in merosindeficient congenital muscular dystrophy. J Child Neurol 1995; 10: ter Laak HJ, Leyten QH, Gabreels FJ, Kuppen H, Renier WO, Sengers RC. Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study. Clin Neurol Neurosurg 1998; 100: Gilhuis HJ, ten Donkelaar HJ, Tanke RB, et al. Nonmuscular involvement in merosin-negative congenital muscular dystrophy. Pediatr Neurol 2002; 26: Parano E, Uncini A, De Vivo DC, Lovelace RE. Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood. J Child Neurol 1993; 8: Brett FM, Costigan D, Farrell MA, Heaphy P, Thornton J, King MD. Merosin-deficient congenital muscular dystrophy and cortical dysplasia. Eur J Paediatr Neurol 1998; 2: Di Muzio A, De Angelis MV, Di Fulvio P, et al. Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve 2003; 27: Deodato F, Sabatelli M, Ricci E, et al. Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency. Neuromuscul Disord 2002; 12: Engvall E, Earwicker D, Day A, Muir D, Manthorpe M, Paulsson M. Merosin promotes cell attachment and neurite outgrowth and is a component of the neurite-promoting factor of RN22 schwannoma cells. Exp Cell Res 1992; 198: Villanova M, Malandrini A, Sabatelli P, et al. Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study. Acta Neuropathol 1997; 94: Anton ES, Sandrock AW Jr, Matthew WD. Merosin promotes neurite growth and Schwann cell migration in vitro and nerve regeneration in vivo: evidence using an antibody to merosin, ARM-1. Dev Biol 1994; 164: Engvall E, Earwicker D, Day A, Muir D, Manthorpe M, Paulsson M. Merosin promotes cell attachment and neurite outgrowth and is a component of the neurite-promoting factor of RN22 schwannoma cells. Exp Cell Res 1992; 198: Jaakkola S, Savunen O, Halme T, Uitto J, Peltonen J. Basement membranes during development of human nerve: Schwann cells and perineurial cells display marked changes in their expression profiles for laminin subunits and beta 1 and beta 4 integrins. J Neurocytol 1993; 22: Previtali SC, Nodari A, Taveggia C, et al. Expression of laminin receptors in schwann cell differentiation: evidence for distinct roles. J Neurosci 2003; 23: Huey PU, Marcell T, Owens GC, Etienne J, Eckel RH. Lipoprotein lipase is expressed in cultured Schwann cells and functions in lipid synthesis and utilization. J Lipid Res 1998; 39: Saxena U, Klein MG, Goldberg IJ. Metabolism of endothelial cell-bound lipoprotein lipase. Evidence for heparan sulfate proteoglycan-mediated internalization and recycling. J Biol Chem 1990; 265: Arahata K, Hayashi YK, Koga R, et al. Laminin in animal models for muscular dystrophy. Proc Japan Acad 1993; 69: Bradley WG, Jenkison M. Neural abnormalities in the dystrophic mouse. J Neurol Sci 1975; 25: Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell KP. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994; 269: Xu H, Christmas P, Wu XR, Wewer UM, Engvall E. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci U S A 1994; 91: Nakagawa M, Miyagoe-Suzuki Y, Ikezoe K, et al. Schwann cell myelination occurred without basal lamina formation in laminin alpha2 chain-null mutant (dy3k/dy3k) mice. Glia 2001; 35: Wallquist W, Patarroyo M, Thams S, et al. Laminin chains in rat and human peripheral nerve: distribution and regulation during development and after axonal injury. J Comp Neurol 2002; 454: O Brien DP, Johnson GC, Liu LA, et al. Laminin alpha 2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats. J Neurol Sci 2001; 189: Feltri ML, Graus Porta D, Previtali SC, et al. Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons. J Cell Biol 2002; 156: Masaki T, Matsumura K, Saito F, et al. Expression of dystroglycan and laminin-2 in peripheral nerve under axonal degeneration and regeneration. Acta Neuropathol 2000; 99:
Three Muscular Dystrophies: Loss of Cytoskeleton-Extracellular Matrix Linkage
Cell, Vol. 80, 675-679, March 10, 1995, Copyright 1995 by Cell Press Three Muscular Dystrophies: Loss of Cytoskeleton-Extracellular Matrix Linkage Review Kevin P. Campbell Howard Hughes Medical Institute
More informationCongenital Muscular Dystrophy: Hospital Based Study in Egyptian Pediatric Patients
World Journal of Medical Sciences 10 (4): 503-507, 2014 ISSN 1817-3055 IDOSI Publications, 2014 DOI: 10.5829/idosi.wjms.2014.10.4.953 Congenital Muscular Dystrophy: Hospital Based Study in Egyptian Pediatric
More informationMerosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report
Case Report Neonatal Med 2016 August;23(3):173-177 pissn 2287-9412. eissn 2287-9803 Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report Young
More informationImmunohistochemical Study of Dystrophin Associated Glycoproteins in Limb-girdle Muscular Dystrophies
Dystrophin Immunohistochemical Study of Dystrophin Associated Glycoproteins in Limb-girdle Muscular Dystrophies NSC 89-2314-B-002-111 88 8 1 89 7 31 ( Peroxidase -AntiPeroxidase Immnofluorescence) Abstract
More informationPeripheral nerve dystroglycan: its function and potential role in the molecular pathogenesis of neuromuscular diseases
Y. Fukuyama, M. Osawa and K. Saito (Eds.), Congenital Muscular Dyrfrophies O 1997 Elsevier Science B.V. All rights reserved CHAPTER 22 Peripheral nerve dystroglycan: its function and potential role in
More informationDSS-1. No financial disclosures
DSS-1 No financial disclosures Clinical History 9 year old boy with past medical history significant for cerebral palsy, in-turning right foot, left clubfoot that was surgically corrected at 3 years of
More informationCongenital muscular dystrophies: New aspects of an expanding group of disorders
Congenital muscular dystrophies: New aspects of an expanding group of disorders Matthew T. Lisia, Ronald D. Cohn To cite this version: Matthew T. Lisia, Ronald D. Cohn. Congenital muscular dystrophies:
More informationA CASE OF GIANT AXONAL NEUROPATHY HEMANANTH T SECOND YEAR POST GRADUATE IN PAEDIATRICS INSTITUTE OF SOCIAL PAEDIATRICS GOVERNMENT STANLEY HOSPITAL
A CASE OF GIANT AXONAL NEUROPATHY HEMANANTH T SECOND YEAR POST GRADUATE IN PAEDIATRICS INSTITUTE OF SOCIAL PAEDIATRICS GOVERNMENT STANLEY HOSPITAL CASE HISTORY Nine year old male child Second born Born
More informationMuscular Dystrophy. Biol 405 Molecular Medicine
Muscular Dystrophy Biol 405 Molecular Medicine Duchenne muscular dystrophy Duchenne muscular dystrophy is a neuromuscular disease that occurs in ~ 1/3,500 male births. The disease causes developmental
More informationEE 791 Lecture 2 Jan 19, 2015
EE 791 Lecture 2 Jan 19, 2015 Action Potential Conduction And Neural Organization EE 791-Lecture 2 1 Core-conductor model: In the core-conductor model we approximate an axon or a segment of a dendrite
More informationProfile, types, duration and severity of muscular dystrophy: a clinical study at a tertiary care hospital
International Journal of Advances in Medicine Viswajyothi P et al. Int J Adv Med. 2018 Jun;5(3):700-704 http://www.ijmedicine.com pissn 2349-3925 eissn 2349-3933 Original Research Article DOI: http://dx.doi.org/10.18203/2349-3933.ijam20182126
More informationPediatric Aspects of EDX
Pediatric Aspects of EDX Albert C. Clairmont, MD Associate Professor-Clinical The Ohio State University February 25, 2013 Objectives Overview of Pediatric Electrodiagnosis (EDX) Understand the different
More informationCARDIAC muscle is commonly affected in muscular
362 THE NEW ENGLAND JOURNAL OF MEDICINE Feb. 8, 1996 BRIEF REPORT: DEFICIENCY OF A DYSTROPHIN-ASSOCIATED GLYCOPROTEIN (ADHALIN) IN A PATIENT WITH MUSCULAR DYSTROPHY AND CARDIOMYOPATHY RICARDO FADIC, M.D.,
More informationClinical Aspects of Peripheral Nerve and Muscle Disease. Roy Weller Clinical Neurosciences University of Southampton School of Medicine
Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton School of Medicine Normal Nerves 1. Anterior Horn Cell 2. Dorsal root ganglion cell 3.
More informationLecture 13 - Intermediate filaments
02.12.10 Lecture 13 - Intermediate filaments Intermediate filaments Present in nearly all animals, but absent from plants and fungi Rope-like network of filaments in the cell Principle function is maintenance
More information18 (2), DOI: /bjmg
18 (2), 2015 71-76 DOI: 10.1515/bjmg-2015-0088 CASE REPORT SARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENE Diniz G 1,*, Tekgul
More informationCongenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl
Neurology Asia 2017; 22(2) : 155 159 Congenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl 1 MK Thong, 3 Sofiah Ali, 4 YE Park, 5 DS Kim, 6 KJ Goh, 2 KT Wong
More informationMYELINATION, DEVELOPMENT AND MULTIPLE SCLEROSIS 1
MYELINATION, DEVELOPMENT AND MULTIPLE SCLEROSIS 1 Myelination, development and Multiple Sclerosis Randy Christensen Salt Lake Community College MYELINATION, DEVELOPMENT AND MULTIPLE SCLEROSIS 2 Myelination,
More informationCompound Action Potential, CAP
Stimulus Strength UNIVERSITY OF JORDAN FACULTY OF MEDICINE DEPARTMENT OF PHYSIOLOGY & BIOCHEMISTRY INTRODUCTION TO NEUROPHYSIOLOGY Spring, 2013 Textbook of Medical Physiology by: Guyton & Hall, 12 th edition
More informationIl ruolo della diagnostica di laboratorio
Cremona 9 giugno 2017 DIAGNOSI DIFFERENZIALE DELLE MALATTIE DEL SISTEMA NERVOSO PERIFERICO Il ruolo della diagnostica di laboratorio No conflicts of interest Wang Y et al. Mediators of Inflammatory 2015
More informationCorporate Medical Policy
Corporate Medical Policy Genetic Testing for Duchenne and Becker Muscular Dystrophy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_duchenne_and_becker_muscular_dystrophy
More informationEpidermal Nerve Fiber and Schwann cell densities in the distal leg of Nine-banded Armadillos with Experimental Leprosy neuropathy
Epidermal Nerve Fiber and Schwann cell densities in the distal leg of Nine-banded Armadillos with Experimental Leprosy neuropathy Gigi J Ebenezer 1 Richard Truman 2 David Scollard 2 Michael Polydefkis
More informationSynapse Formation. Steven McLoon Department of Neuroscience University of Minnesota
Synapse Formation Steven McLoon Department of Neuroscience University of Minnesota 1 Course News Midterm Exam Monday, Nov 13 9:30-11:30am Bring a #2 pencil!! 2 Course News Lecture schedule: Mon (Oct 31)
More informationDystrophin-glycoprotein complex: molecular organization and critical roles in skeletal muscle
Dystrophin-glycoprotein complex: molecular organization and critical roles in skeletal muscle Yoshihide Sunada and Kevin P. Campbell Howard Hughes Medical Institute, Department of Physiology and Biophysics,
More informationBrain Development III
Brain Development III Neural Development In the developing nervous system there must be: 1. The formation of different regions of the brain. 2. The ability of a neuron to differentiate. 3. The ability
More informationvariant led to a premature stop codon p.k316* which resulted in nonsense-mediated mrna decay. Although the exact function of the C19L1 is still
157 Neurological disorders primarily affect and impair the functioning of the brain and/or neurological system. Structural, electrical or metabolic abnormalities in the brain or neurological system can
More informationMotor and sensory nerve conduction studies
3 rd Congress of the European Academy of Neurology Amsterdam, The Netherlands, June 24 27, 2017 Hands-on Course 2 Assessment of peripheral nerves function and structure in suspected peripheral neuropathies
More informationSelective filtering defect at the axon initial segment in Alzheimer s disease mouse models. Yu Wu
Selective filtering defect at the axon initial segment in Alzheimer s disease mouse models Yu Wu Alzheimer s Disease (AD) Mouse models: APP/PS1, PS1δE9, APPswe, hps1 Wirths, O. et al, Acta neuropathologica
More informationDiagnosis, management and new treatments for Spinal Muscular Atrophy Special Focus: SMA Type 1
Diagnosis, management and new treatments for Spinal Muscular Atrophy Special Focus: SMA Type 1 17 th April 2018 Adnan Manzur Consultant Paediatric Neurologist Dubowitz Neuromuscular Centre, GOSH & ICH,
More informationREAD ORPHA.NET WEBSITE ABOUT BETA-SARCOGLYOCANOPATHY LIMB-GIRDLE MUSCULAR DYSTROPHIES
READ ORPHA.NET WEBSITE ABOUT BETA-SARCOGLYOCANOPATHY LIMB-GIRDLE MUSCULAR DYSTROPHIES (LGMD) Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined disorders with a
More informationIntroduction and aims of the study
Introduction and aims of the study 1 Chapter 1 Motor neuron diseases include the most incapacitating and life-threatening illnesses but also rather benign disorders with only mild symptoms and slow progression.
More informationMuscular Dystrophies. Pinki Munot Consultant Paediatric Neurologist Great Ormond Street Hospital Practical Neurology Study days April 2018
Muscular Dystrophies Pinki Munot Consultant Paediatric Neurologist Great Ormond Street Hospital Practical Neurology Study days April 2018 Definition and classification Clinical guide to recognize muscular
More informationSURVEY OF DUCHENNE TYPE AND CONGENITAL TYPE OF MUSCULAR DYSTROPHY IN SHIMANE, JAPAN 1
Jap. J. Human Genet. 22, 43--47, 1977 SURVEY OF DUCHENNE TYPE AND CONGENITAL TYPE OF MUSCULAR DYSTROPHY IN SHIMANE, JAPAN 1 Kenzo TAKESHITA,* Kunio YOSHINO,* Tadashi KITAHARA,* Toshio NAKASHIMA,** and
More informationPost-MDT leprosy neuropathy: differentially diagnosing reactional neuritis and relapses.
Sérgio Luiz Gomes Antunes Márcia Rodrigues Jardim Robson Vital Teixeira José Augusto da Costa Nery Anna Maria Sales, Euzenir Nunes Sarno Post-MDT leprosy neuropathy: differentially diagnosing reactional
More informationCritical Illness Polyneuropathy CIP and Critical Illness Myopathy CIM. Andrzej Sladkowski
Critical Illness Polyneuropathy CIP and Critical Illness Myopathy CIM Andrzej Sladkowski Potential causes of weakness in the ICU-1 Muscle disease Critical illness myopathy Inflammatory myopathy Hypokalemic
More informationMutations in several components of the dystrophin glycoprotein. Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption
Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption Volker Straub,* Jill A. Rafael, Jeffrey S. Chamberlain, and Kevin P. Campbell* Department of *Physiology and Biophysics
More informationSMA IS A SEVERE NEUROLOGICAL DISORDER [1]
SMA OVERVIEW SMA IS A SEVERE NEUROLOGICAL DISORDER [1] Autosomal recessive genetic inheritance 1 in 50 people (approximately 6 million Americans) are carriers [2] 1 in 6,000 to 1 in 10,000 children born
More informationGuide to the use of nerve conduction studies (NCS) & electromyography (EMG) for non-neurologists
Guide to the use of nerve conduction studies (NCS) & electromyography (EMG) for non-neurologists What is NCS/EMG? NCS examines the conduction properties of sensory and motor peripheral nerves. For both
More informationA Lawyer s Perspective on Genetic Screening Performed by Cryobanks
A Lawyer s Perspective on Genetic Screening Performed by Cryobanks As a lawyer practicing in the area of sperm bank litigation, I have, unfortunately, represented too many couples that conceived a child
More informationA rare case of muscular dystrophy with POMT2 and FKRP gene mutation. Present by : Ghasem Khazaei Supervisor :Dr Mina Mohammadi Sarband
A rare case of muscular dystrophy with POMT2 and FKRP gene mutation Present by : Ghasem Khazaei Supervisor :Dr Mina Mohammadi Sarband Index : Congenital muscular dystrophy (CMD) Dystroglycanopathies Walker-Warburg
More informationNURSE-UP INTRODUCTION TO THE NERVOUS SYSTEM
NURSE-UP INTRODUCTION TO THE NERVOUS SYSTEM FUNCTIONS OF THE NERVOUS SYSTEM Body s primary communication and control system. Integrates and regulates body function Collects information specialized nervous
More informationAssociation of motor milestones and SMN2 copy and outcome in spinal muscular. atrophy types 0 4
jnnp-2016-314292 1 - SUPPLEMENTARY FILE - Methods and additional data on clinical characteristics and motor development Association of motor milestones and SMN2 copy and outcome in spinal muscular atrophy
More informationSkeletal Muscle and the Molecular Basis of Contraction. Lanny Shulman, O.D., Ph.D. University of Houston College of Optometry
Skeletal Muscle and the Molecular Basis of Contraction Lanny Shulman, O.D., Ph.D. University of Houston College of Optometry Like neurons, all muscle cells can be excited chemically, electrically, and
More informationNerve. (2) Duration of the stimulus A certain period can give response. The Strength - Duration Curve
Nerve Neuron (nerve cell) is the structural unit of nervous system. Nerve is formed of large numbers of nerve fibers. Types of nerve fibers Myelinated nerve fibers Covered by myelin sheath interrupted
More informationPeripheral neuropathies, neuromuscular junction disorders, & CNS myelin diseases
Peripheral neuropathies, neuromuscular junction disorders, & CNS myelin diseases Peripheral neuropathies according to which part affected Axonal Demyelinating with axonal sparing Many times: mixed features
More informationThank you to: L Magy, L Richard, N Couade, F Maquin
«Crash course in the interpretation of peripheral nerve biopsies: which nerve to biopsy, tissue fixation: paraffin, semi thins, EM (common stains and immunos), identifying degenerating and regenerating
More informationORIGINAL CONTRIBUTION. New Mutations, Prenatal Diagnosis, and Founder Effect
ORIGINAL CONTRIBUTION LAMA2 Gene Analysis in Congenital Muscular Dystrophy New Mutations, Prenatal Diagnosis, and Founder Effect Claudia Di Blasi, PhD; Daniela Piga, PhD; Paolo Brioschi, PhD; Isabella
More informationThe Brain Pathology in Fukuyama Type Congenital Muscular Dystrophy -CT and Autopsy Findings-
The Brain Pathology in Fukuyama Type Congenital Muscular Dystrophy -CT and Autopsy Findings- Masakuni Mukoyama*, MD, Itsuro Sobue**, MD, Toshiyuki Kumagai***, MD, Tamiko Negoro***, MD, and Katsuhiko Iwase***,
More informationMajor Structures of the Nervous System. Brain, cranial nerves, spinal cord, spinal nerves, ganglia, enteric plexuses and sensory receptors
Major Structures of the Nervous System Brain, cranial nerves, spinal cord, spinal nerves, ganglia, enteric plexuses and sensory receptors Nervous System Divisions Central Nervous System (CNS) consists
More informationTissue renewal and Repair. Nisamanee Charoenchon, PhD Department of Pathobiology, Faculty of Science
Tissue renewal and Repair Nisamanee Charoenchon, PhD Email: nisamanee.cha@mahidol.ac.th Department of Pathobiology, Faculty of Science Topic Objectives 1. Describe processes of tissue repair, regeneration
More informationNEURONS Chapter Neurons: specialized cells of the nervous system 2. Nerves: bundles of neuron axons 3. Nervous systems
NEURONS Chapter 12 Figure 12.1 Neuronal and hormonal signaling both convey information over long distances 1. Nervous system A. nervous tissue B. conducts electrical impulses C. rapid communication 2.
More informationNerve Autografts, Allografts, Conduits, Wraps, and Glue. What Should I Do?
Nerve Autografts, Allografts, Conduits, Wraps, and Glue. What Should I Do? David Kahan, MD Fellow, Hand & Upper Extremity Surgery Rothman Institute at Thomas Jefferson University Outline Wallerian Degeneration
More informationORIGINAL ARTICLE Evaluation of One Hundred Pediatric Muscle Biopsies During A 2-Year Period in Mofid Children And Toos Hospitals
ORIGINAL ARTICLE Evaluation of One Hundred Pediatric Muscle Biopsies During A 2-Year Period in Mofid Children And Toos Hospitals How to Cite This Article: : Nilipor Y, Shariatmadari F, Abdollah gorji F,
More informationIII./10.4. Diagnosis. Introduction. A.) Laboratory tests. Laboratory tests, electrophysiology, muscle biopsy, genetic testing, imaging techniques
III./10.4. Diagnosis Laboratory tests, electrophysiology, muscle biopsy, genetic testing, imaging techniques After studying this chapter, you will become familiar with the most commonly used diagnostic
More informationHMG Advance Access published April 19, 2011
HMG Advance Access published April 19, 2011 1 Peripheral nerve pathology, including aberrant Schwann cell differentiation, is ameliorated by doxycycline in a laminin- 2-deficient mouse model of congenital
More informationA. Subdivisions of the Nervous System: 1. The two major subdivisions of the nervous system:
BIO 211: ANATOMY & PHYSIOLOGY I 1 Ch 10 A Ch 10 B CHAPTER 10 NERVOUS SYSTEM 1 BASIC STRUCTURE and FUNCTION Dr. Lawrence G. Altman www.lawrencegaltman.com Some illustrations are courtesy of McGraw-Hill.
More informationNeuroimaging Manifestations and Classification of Congenital Muscular Dystrophies
AJNR Am J Neuroradiol 19:1389 1396, September 1998 Neuroimaging Manifestations and Classification of Congenital Muscular Dystrophies A. James Barkovich BACKGROUND AND PURPOSE: Recent work has shown that
More informationChapter 18 Genetics of Behavior. Chapter 18 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning
Chapter 18 Genetics of Behavior Behavior Most human behaviors are polygenic and have significant environmental influences Methods used to study inheritance include Classical methods of linkage and pedigree
More informationADVERSE OUTCOMES IN CHILDREN WITHOUT FAMILIES: Long- and Short-Term Effects of Institutional Care in the Bucharest Early Intervention Project
ADVERSE OUTCOMES IN CHILDREN WITHOUT FAMILIES: Long- and Short-Term Effects of Institutional Care in the Bucharest Early Intervention Project The global situation Research of post-institutionalized children
More informationCell Biology (BIOL 4374 and BCHS 4313) Third Exam 4/24/01
Cell Biology (BIOL 4374 and BCHS 4313) Third Exam 4/24/01 Name SS# This exam is worth a total of 100 points. The number of points each question is worth is shown in parentheses. For multiple choice questions,
More informationNeuronal plasma membrane
ORGANELLES ORGANELLES Neuronal plasma membrane The neuronal plasma membrane contains several local domains with unique properties Presynaptic terminal Endoplasmic Reticulum In neurons the Nissl bodies
More informationBelow are photos from a 6 month old child with Werdnig-Hoffman s disease.
PBL 4 Sadie s story Sadie s Story Objectives of PBL: 1) Review and be able to answer questions about normal skeletal muscle organization and structure. 2) Review and be able to answer questions about spinal
More informationEM: myelin sheath shows a series of concentrically arranged lamellae
EM: myelin sheath shows a series of concentrically arranged lamellae ---- how to form myelin sheath? Schwann cell invagination and envelop the axon form mesaxon mesaxon become longer and longer winding
More informationTech Spec. Team Superfly!
Tech Spec Team Superfly! Remyelination Impact Numerous diseases deal with demyelination, and symptoms are severe! Greatly improve quality of life for many individuals 2.1 million people worldwide with
More informationHistological Spectrum of Pure Neuritic Leprosy:
Department of Histopathology Postgraduate Institute of Medical Education & Research Chandigarh,India Histological Spectrum of Pure Neuritic Leprosy: Experience at Tertiary Care Centre Dr Uma Nahar INTRODUCTION
More informationDevelopment of the Central Nervous System
Development of the Central Nervous System an ongoing process, through adolescence and maybe even adult hood? the nervous system is plastic Experience plays a key role Dire consequences when something goes
More informationEvaluation of the Hypotonic Infant and Child
Evaluation of the Hypotonic Infant and Child Basil T. Darras, M.D. Neuromuscular Program Boston Children s Hospital Harvard Medical School Boston, MA, USA Classification and General Clinical Evaluation
More informationPeripheral Neuropathies
Peripheral Neuropathies ELBA Y. GERENA MALDONADO, MD ACTING ASSISTANT PROFESSOR UNIVERSITY OF WASHINGTON MEDICAL CENTER Objectives Definition Neurophysiology Evaluation of polyneuropathies Cases Summary
More informationR J M E Romanian Journal of Morphology & Embryology
Rom J Morphol Embryol 2011, 52(1):111 115 ORIGINAL PAPER R J M E Romanian Journal of Morphology & Embryology http://www.rjme.ro/ Value of immunohistochemical investigation in the diagnosis of neuromuscular
More informationCarmen V. Melendez-Vasquez, Associate Professor
Carmen MelendezVasquez Carmen V. MelendezVasquez, Associate Professor Email: melendez@genectr.hunter.cuny.edu Office: 912 HN Phone: 212 7724594 Lab: 911 HN 212 6503022 Fax: 212 7725227 Lab Web Site http://melendez.bioweb.hunter.cuny.edu
More informationIndex. derm.theclinics.com. Note: Page numbers of article titles are in boldface type.
Note: Page numbers of article titles are in boldface type. A Adhesion and migration, the diverse functions of the laminin a3 subunit, 79 87 Alopecia in epidermolysis bullosa, 165 169 Amblyopia and inherited
More informationSEX-LINKED INHERITANCE. Dr Rasime Kalkan
SEX-LINKED INHERITANCE Dr Rasime Kalkan Human Karyotype Picture of Human Chromosomes 22 Autosomes and 2 Sex Chromosomes Autosomal vs. Sex-Linked Traits can be either: Autosomal: traits (genes) are located
More informationLearn the steps to identify pediatric muscle weakness and signs of neuromuscular disease.
Learn the steps to identify pediatric muscle weakness and signs of neuromuscular disease. Listen Observe Evaluate Test Refer Guide for primary care providers includes: Surveillance Aid: Assessing Weakness
More informationNeural Tissue. Chapter 12 Part B
Neural Tissue Chapter 12 Part B CNS Tumors - Neurons stop dividing at age 4 but glial cells retain the capacity to divide. - Primary CNS tumors in adults- division of abnormal neuroglia rather than from
More information4/18/2011. Physiology 67 Lecture on Neural Development
Physiology 67 Lecture on Neural Development 1 2 3 4 5 6 Neural cell categories After the ectodermal tissue has folded into the neural tube, another series of signaling interactions determine the type of
More informationNeonatal Hypotonia. Encephalopathy acute No encephalopathy. Neurology Chapter of IAP
The floppy infant assumes a frog legged position. On ventral suspension, the baby can not maintain limb posture against gravity and assumes the position of a rag doll. Encephalopathy acute No encephalopathy
More informationOutline. Neuron Structure. Week 4 - Nervous System. The Nervous System: Neurons and Synapses
Outline Week 4 - The Nervous System: Neurons and Synapses Neurons Neuron structures Types of neurons Electrical activity of neurons Depolarization, repolarization, hyperpolarization Synapses Release of
More informationBIOL241 - Lecture 12a
Cranial Nerves, source: training.seer.cancer.gov Nervous System Overview BIOL241 - Lecture 12a 1 Topics Divisions of the NS: CNS and PNS Structure and types of neurons Synapses Structure and function of
More informationChapter 11: Nervous System and Nervous Tissue
Chapter 11: Nervous System and Nervous Tissue I. Functions and divisions of the nervous system A. Sensory input: monitor changes in internal and external environment B. Integrations: make decisions about
More informationMaking sense of Nerve conduction & EMG
Making sense of Nerve conduction & EMG Drs R Arunachalam Consultant Clinical Neurophysiologist Wessex Neurological Centre Southampton University Hospital EMG/NCS EMG machine For the assessment of patients
More informationSTRUCTURAL ELEMENTS OF THE NERVOUS SYSTEM
STRUCTURAL ELEMENTS OF THE NERVOUS SYSTEM STRUCTURE AND MAINTENANCE OF NEURONS (a) (b) Dendrites Cell body Initial segment collateral terminals (a) Diagrammatic representation of a neuron. The break in
More informationNeonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012
Neonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012 Hypotonia: reduced tension or resistance to range of motion Localization can be central (brain), peripheral (spinal cord, nerve,
More informationA STUDY OF ASSESSMENT IN PERIPHERAL NEUROPATHY IN PATIENTS WITH NEWLY DETECTED THYROID DISORDERS IN A TERTIARY CARE TEACHING INSTITUTE
A STUDY OF ASSESSMENT IN PERIPHERAL NEUROPATHY IN PATIENTS WITH NEWLY DETECTED THYROID DISORDERS IN A TERTIARY CARE TEACHING INSTITUTE Rajan Ganesan 1, Marimuthu Arumugam 2, Arungandhi Pachaiappan 3, Thilakavathi
More informationComparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome
Iranian Journal of Neurology Original Paper Iran J Neurol 2014; 13(3): 138-143 Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome Received: 9 Mar 2014 Accepted:
More informationNeural Basis of Motor Control
Neural Basis of Motor Control Central Nervous System Skeletal muscles are controlled by the CNS which consists of the brain and spinal cord. Determines which muscles will contract When How fast To what
More informationCollin County Community College BIOL Week 5. Nervous System. Nervous System
Collin County Community College BIOL 2401 Week 5 Nervous System 1 Nervous System The process of homeostasis makes sure that the activities that occur in the body are maintained within normal physiological
More informationTissue repair. (3&4 of 4)
Tissue repair (3&4 of 4) What will we discuss today: Regeneration in tissue repair Scar formation Cutaneous wound healing Pathologic aspects of repair Regeneration in tissue repair Labile tissues rapid
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 informationCongenital muscular dystrophy with laminin 2 chain-deficiency. Initiation of disease and development of treatment
Congenital muscular dystrophy with laminin 2 chain-deficiency. Initiation of disease and development of treatment Körner, Zandra Published: 2016-01-01 Document Version Publisher's PDF, also known as Version
More informationCNB12 Plus. by ChiroNutraceutical. Recommended for:
CNB12 Plus by ChiroNutraceutical Recommended for: Increased Metabolism Nervous System Repair & Support Anti-Brain Aging Anemia Parkinson s, Alzheimer s and Multiple Sclerosis What is Methylcobalamin? Methylcobalamin
More informationataxia, head tremors and mild inappentence, was given palliative care
2013-5-2 Cerebellum, Spleen-Raccoon Ahmed M. Abubakar BOVINE PATHOLOGY CONTRIBUTING INSTITUTION :College of Veterinary Medicine UC Davies Signalment: Wild-caught juvenile male raccoon, ( Procyon lotor)
More informationNeuromuscular in the Pediatric Clinic: Recognition and Referral
Neuromuscular in the Pediatric Clinic: Recognition and Referral Matthew Harmelink, MD Assistant Professor, Pediatric Neurology Medical College of Wisconsin Objectives: 1. Understand common presentations
More informationApril 29, Neurophysiology. Chul-Kyu Park, Ph.D. Assistant Professor Department of Physiology, Graduate School of Medicine, Gachon University,
April 29, 2016 Neurophysiology Chul-Kyu Park, Ph.D. Assistant Professor Department of Physiology, Graduate School of Medicine, Gachon University, Cells in the brain Neurons glia 1. Astrocytes 2. Microglia
More informationCells of the nervous system
Neurobiology Cells of the nervous system Anthony Heape 2011 1 Cells of the nervous system Neuroglia : part 2 The non excitable cells of the nervous system that provide support to neuronal survival and
More informationCover Page. The handle holds various files of this Leiden University dissertation.
Cover Page The handle http://hdl.handle.net/1887/29354 holds various files of this Leiden University dissertation. Author: Straathof, Chiara Title: dystrophinopathies : heterogeneous clinical aspects of
More informationThe congenital muscular dystrophies in 2004: a century of exciting progress
Neuromuscular Disorders 14 (2004) 635 649 Review The congenital muscular dystrophies in 2004: a century of exciting progress Francesco Muntoni a, *, Thomas Voit b a Department of Paediatrics and Neonatal,
More informationLESSON 2.3 WORKBOOK. How fast do our neurons signal?
Glial cell several classes of non-neuronal cells of the nervous system. LESSON 2.3 WORKBOOK How fast do our neurons signal? Remember that winning goal you scored, that snowball you dodged or the cup of
More informationSrc-INACTIVE / Src-INACTIVE
Biology 169 -- Exam 1 February 2003 Answer each question, noting carefully the instructions for each. Repeat- Read the instructions for each question before answering!!! Be as specific as possible in each
More informationELECTROPHYSIOLOGICAL FEATURES OF INHERITED DEMYELINATING NEUROPATHIES: A REAPPRAISAL IN THE ERA OF MOLECULAR DIAGNOSIS
INVITED REVIEW ABSTRACT: The observation that inherited demyelinating neuropathies have uniform conduction slowing and that acquired disorders have nonuniform or multifocal slowing was made prior to the
More informationPsych 3102 Lecture 3. Mendelian Genetics
Psych 3102 Lecture 3 Mendelian Genetics Gregor Mendel 1822 1884, paper read 1865-66 Augustinian monk genotype alleles present at a locus can we identify this? phenotype expressed trait/characteristic can
More information