Index. Springer-Verlag Wien 2015 P. Kanovsky et al. (eds.), Dystonia and Dystonic Syndromes, DOI /

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1 A Alternating hemiplegia of childhood (AHC), 36 Antecollis atypical parkinsonism, relative frequencies in, 90 differential diagnosis, 92 dropped head syndrome, 91 MSA, prevalence in, 90, 92 stooped parkinsonian posture, 91 symptoms, 92 treatment, 96 Antibody-induced therapy failure (ABTF), 130 Anticholinergic drugs, 119, 190, 195 Anticonvulsants, 121 Antidopaminergic drugs anticonvulsants, 121 baclofen, 120 benzodiazepines, 121 mexiletine, 121 riluzole, 121 tetrabenazine, 120, 123 Apotemnophilia, 108 Apraxia of eyelid opening (AEO), 77, 93 94, 139 Arm dystonia BT therapy, 142, 143, 145 PSP, 93 Athetoid cerebral palsy, 64 Atypical parkinsonian syndromes (APS) corticobasal degeneration CBS phenotype, PSP phenotype, 95 treatment, dystonia types and frequencies in, multiple system atrophy ( see Multiple system atrophy (MSA)) postural abnormalities, 89 progressive supranuclear palsy, 93 94, 96 B Baclofen, 123 DYT1 dystonia patients, 120 fixed dystonia, CRPSI, 109 focal dystonias, 120 idiopathic dystonia, 120 ITB, 120, 133, 209 side effects, 120 XDP, 82 Basal ganglia thalamocortical (BGTC) motor circuit, 187 abnormal sensorimotor coordination, 195 abnormal synaptic plasticity, altered discharge patterns, altered SSR receptive fields, and CBTC interactions and pathways, direct and indirect pathways, reduced mean discharge rates, striatal-matrix pathways, imbalance in, 195 Benzodiazepines, 82, 121, 122 Bereitschaft potential (BP), 8 Biofeedback, 212 cervical dystonia, focal hand dystonia, 220 Blepharospasm blink reflex recovery, abnormalities of, 14 BT therapy, 127, 136, 139 in CBD patients, 95 clonazepam, 121 in MSA patients, 90 Parkinson s disease, 71, 76, 77 in PSP patients, 93 94, 96 Body integrity identity disorder, 108 Botox adverse effect profiles of, 132 dose ranges, 134, 135 pharyngolaryngeal dystonia, 140 properties of, 129, 131 Springer-Verlag Wien 2015 P. Kanovsky et al. (eds.), Dystonia and Dystonic Syndromes, DOI /

2 246 Botulinum neurotoxin (BNT), 128, 153 Botulinum toxin (BT) antecollis, 96 antigenicity, , 146 arm dystonia, BNT and complexing proteins, 128 BoNT-A (see Botulinum toxin A (BoNT-A)) CBD, 97 cervical dystonia, 16, combined neck exercises and, 215 in cosmetics, 127 cranial dystonias, 136, in crocodile tears, 127 dose-duration correlation, 129 dose-effect correlation, 129 dose ranges, 134, 135 dystonia therapy, multilayer concept of, intramuscular placement of, leg dystonia, mode of action, in muscle hyperactivity syndromes, 127 myoclonus-dystonia, 66 pain syndromes, 127 patient diary, pharyngolaryngeal dystonia, 140 Pisa syndrome, 96 planning of, retrocollis, 96 safety aspects and adverse effects, 132 segmental and generalised dystonia, strabismus in children, 127 therapeutic effect, monitoring of, 136 therapeutic profile of, type A and B drug, properties of, Botulinum toxin A (BoNT-A) cervical dystonia patients, long-term studies of, questionnaire outcomes, reasons for discontinuation, 154 selection criteria, Tsui score, course of, 157 writer s cramp, 160 long-term efficacy of, reasons for discontinuation, selection criteria, 156 Bromocriptine, 119 BTX. See Botulinum toxin (BT) Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), 136, 174, 192 C Causalgia-dystonia, 103 CBD. See Corticobasal degeneration (CBD) CBS. See Corticobasal syndrome (CBS) Cerebellothalamocortical (CBTC) motor circuit, 194, Cerebral palsy (CP) DYT5/DRD, 83 GPi-DBS, 181 leg dystonia, secondary dystonia, 64, 180 Cervical dystonia (CD), 3 ANO3 gene, 34 biofeedback, BoNT-A treatment, long-term efficacy of, questionnaire outcomes, reasons for discontinuation, 154 selection criteria, Tsui score, course of, 157 botulinum toxin, 16, in CBD patients, 95 cerebral motor control, disorganization of, 13 CIZ1 gene, clonazepam, 121 diagnosis of, 152 dysphagia in, 224 GPi-DBS for, , GPi neurons altered discharge patterns, mean discharge rates, changes in, 192 head and neck deviation, 141 motor control, impairment of, 13 myotomy, 165, 168, 172 physical therapy interventions (see Physiotherapy) prevalence of, 151 retrocollis, 94 SCA 2, 85, 87 selective peripheral denervation, 165, sensory stimulation, 218 thalamotomies, theta burst stimulation, 18 vestibular rehabilitation, 223, 224 in XPD, 81 Character heads as anticlassicism, 229 dystonic movements, depiction of, expressions of, 234, 235 facial proportions, , 240

3 German gothic, naturalistic tendencies of, 229 Lavater s doctrine on, 229 Mesmer s hypnosis, influences of, 229, 235 Nicolai s report on, 230, 240 ornamentation, 234 physiognomy, 229 psychoanalytical interpretation of, 230 as reaction to personal situation, 228 as reaction to social situation, 228 Roman and Egyptian art, influences of, 229, schizophrenia, signs of, Cholinergic interneurons (ChIs), , 195 Clinical Global Impression (CGI) scale, 156, 157 Clonazepam, 96, 121, 123 Cognitive behavioral therapy (CBT), 109 Combined dystonia, 35, 51, 54 ATP1A3 (DYT12), 36 GCH1 (DYT5a), TH (DYT5b), and SPR, PNKD (DYT8), 39 PRRT2 (DYT10), 40 SGCE (DYT11), 38 SLC2A1 (DYT18/DYT9), TAF1 (DYT3), Complex regional pain syndrome type I (CRPSI), Contingent negative variation (CNV), 8 Corticobasal degeneration (CBD) CBS phenotype, PSP phenotype, 95 treatment, Corticobasal syndrome (CBS), Cranial dystonias, 95, 136, Craniocervical dystonia in MSA patients, 90 TUBB4 (DYT4), 9 D Deep brain stimulation (DBS), 19, 174 primary dystonia cervical dystonia, , Meige syndrome, 177 myoclonus dystonia, 177, 180 primary generalised dystonia, secondary dystonia brain iron accumulation, patients with, 181 cerebral palsy, 181 chorea-acanthocytosis, Huntington s disease, 180 PKAN, 180 postanoxic dystonia, 181 postencephalic/infectious subtypes, 181 posttraumatic dystonia, 181 tardive dystonia, 181 Delayed-onset dystonia, 64 Dentatorubral-pallidoluysian atrophy (DRPLA), 70 Diffuse brain disorder, 63, 64 Diphasic dystonia, 77, 78 Dopa-responsive dystonia (DRD), autosomal dominant GTP cyclohydrolase 1 deficiency, 65 childhood dystonias, 118 diurnal fluctuations, 66 early-onset lower limb dystonia, 65 parkinsonism, 35, 66, 83, 87 Dropped head syndrome, 91 Dyskinesia improvement dyskinesia (D-I-D), 77, 78 Dysport adverse effect profiles of, 132 properties of, 129, 131 Dystonia adult-onset focal dystonias, 13 atypical parkinsonism (see Atypical parkinsonian syndromes (APS)) botulinum toxin therapy ( see Botulinum toxin (BT)) brain plasticity, 8 classification scheme age of onset, body distribution, etiology, evolution of, 56, 59 genetic classification (see Genetics, inherence patterns, 54 temporal pattern, cortical excitability, disorder of, 7 cortico-cortical inhibition, disorder of, 7 8 definition of, 5, 13, 27, 50 functional dystonia (see Functional gamma system, 6 Messerschmidt s character heads, depiction in, as morbid entity, motor action, 5 6 motor programmes, 7, 8 neurorehabilitation in ( see Neurorehabilitation)

4 248 Dystonia (cont.) parkinsonism (see Parkinson s disease (PD)) pathophysiology of (see Pathophysiology, pharmacological treatment (see Pharmacotherapy) reciprocal inhibition, 7 Rondot s motor hierarchy, 6 secondary/symptomatic (see Secondary sensorimotor integration, 8 surgical treatment of ( see Surgical treatment) terminology, Dystonia musculorum deformans, 3, 4, 49 Dystonia-plus syndromes DRD (see Dopa-responsive dystonia (DRD)) DYT16/early-onset dystonia, 65, 84, 87 DYT12/RDP, 65, 83 84, 87 myoclonus-dystonia, 66 E Early-morning dystonia, Electrical stimulation, , 174, 181, 218 Eyeblink conditioning paradigm, 21 F Facial Action Coding System (FACS), 235 Flatau, Edward, 3, 5 FMDs. See Functional movement disorders (FMDs) Focal dystonia, 53 altered SSR receptive fields, baclofen, 120 blepharospasm (see Blepharospasm) bromocriptine, 119 cervical dystonia (see Cervical dystonia (CD)) definition, 51 idiopathic focal dystonia, 216 myectomy, 168 parkinsonism, 76, 77, tetrabenazine, 120 treatment, 122 writer s cramp (see Writer s cramp) Focal hand dystonia biofeedback, 220 loss of inhibition, 14 orthotic device, physical agents, 221 physical therapy, sensory stimulation, 219 writer s cramp (see Writer s cramp) Foot dystonia, 71, 79, 95 Friedreich s ataxia, 71 Functional dystonia diagnostic criteria for, epidemiology, 102 historical development of, and organic dystonia ( see Organic pathophysiology and neurobiology of abnormal beliefs/expectations, 107 abnormal cortical and spinal inhibition, abnormal self-directed attention, abnormal sense of agency, 107 abnormal temporal discrimination, 108 mental rotation task, 108 peripheral mechanisms, 108 psychological trauma, 106 terminology, treatment, 109 Functional movement disorders (FMDs) abnormal beliefs/expectations, 107 abnormal self-directed attention, abnormal sense of agency, 107 diagnostic criteria for, 105 epidemiology, 102 G Galactosaemia, 68 Gamma system, 6, 7 Gaucher s disease, 69 Generalized dystonia, 53 anticholinergic drugs, 119 bromocriptine, 119 definition, DRD, 118 intrathecal baclofen, 209 levetiracetam, 121 parkinsonism in XDP, 82 SCA 3, 85 Genetics, dystonia, clinicogenetic correlations, 56, 58 combined dystonias, 35 ATP1A3 (DYT12), 36 GCH1 (DYT5a), TH (DYT5b), and SPR, PNKD (DYT8), 39 PRRT2 (DYT10), 40 SGCE (DYT11), 38 SLC2A1 (DYT18/DYT9), TAF1 (DYT3), 37 38

5 DYT designation, inconsistencies of, DYT3/XPD, GCH1 gene, 27 genes and loci, 56, 57 genetic testing, 42 isolated dystonias, ANO3 (DYT24), 34 CIZ1 (DYT23), GNAL (DYT25), 33 PRKRA (DYT16), THAP1 (DYT6), TOR1A (DYT1), 32 TUBB4 (DYT4), NGS, 41 Geste antagonistique, 218, 220 Glutaric acidemia type 1, 69 GM1-gangliosidosis, 69, 83, 87 Gowers, William Richard, 3, 4 Guadeloupean parkinsonism, 76, H Hallervorden-Spatz disease, Hartnup s disease, 67 Hemidystonia, 53, 62, 64, 76, 77 Heredodegenerative dystonia DRPLA, 70 DYT3/XPD (see X-linked dystonia parkinsonism (XDP)) galactosaemia, 68 Gaucher s disease, 69 glutaric acidemia type 1, 69 GM1-gangliosidosis, 69 Hartnup s disease, 67 homocysteinaemia, 68 Huntington s disease, 70 Lesch-Nyhan disease, 67 metachromatic dystrophy, 69 methylmalonemia, 68 mitochondriopathies, 67 neuronal ceroid lipofuscinosis, 69 Niemann-Pick disease, 69 spinocerebellar ataxias, 70 Wilson s disease, 68 Homocysteinaemia, 68 Huntington s disease (HD) age of manifestation, 70 deep brain stimulation, 180 diagnosis of, 70 parkinsonism, 76, 86, 87 treatment of, 70 Hysteria, 101 I Idiopathic torsion dystonia, 50 Intrathecal baclofen (ITB), 109, 120, 123 Isolated dystonia, 30 31, 51, ANO3 (DYT24), 34 CIZ1 (DYT23), GNAL (DYT25), 33 PRKRA (DYT16), THAP1 (DYT6), TOR1A (DYT1), 32 TUBB4 (DYT4), J Joint hypermobility syndrome, 106 Juvenile-onset Parkinson s disease, 79 80, 87 L Laryngeal stridor, 90, 92 Learning-based sensorimotor training (LBSMT), 217 Leg dystonia, 35, 118, Lesch-Nyhan disease, 67 Levetiracetam, 121 Levodopa, 123 antecollis, 96 blepharospasm, 94 CBD, 95, 96 childhood-onset dystonia, 118 limb dystonia in MSA, 92 parkinsonian disorders, 87 diphasic dystonia, 77, 78 DYT5/DRD, 83 early-morning dystonia, 77, 78 Gd-PDC and Gd-PSP patients, 84 Huntington s disease, 86 off dystonia, 77, 78 peak-dose dystonia, 77, 78 pretreatment dystonia, 77, 78 XDP, 82 Limb dystonia CBD, 96, 97 in MSA patients, 90, 92 in PSP patients, 93, 96 in XDP, 77, 81 Long-interval intracortical inhibition (LICI), 107 Long-term potentiation (LTP), 17 M Machado Joseph disease (MJD), 85 Marsden, C. David, 5 MD. See Myoclonus-dystonia (MD)

6 250 Meige s syndrome, 177, 237 Mental rotation task, 108 Mesmer, Franz Anton, 229 Messerschmidt, Franz Xaver, 242 character heads, interpretation of as anticlassicism, 229 dystonic movements, depiction of, expressions of, 234, 235 facial proportions, , 240 German gothic, naturalistic tendencies of, 229 Lavater s doctrine on, 229 Mesmer s hypnosis, influences of, 229, 235 Nicolai s report on, 230, 240 ornamentation, 234 physiognomy, 229 psychoanalytical interpretation of, 230 as reaction to personal situation, 228 as reaction to social situation, 228 Roman and Egyptian art, influences of, 229, schizophrenia, signs of, curriculum vitae of, 228 mental illness course of, 232 probability of genesis, symptoms of, Metachromatic dystrophy, 69 Methylmalonemia, 68 Mexiletine, 121 Mitochondriopathies, 67 Motor memory, 7 Motor programmes, 7, 8 Multiple system atrophy (MSA) antecollis, 91 92, 96 dystonia, distribution and prevalence of, 90 laryngeal stridor, 92 limb dystonia, 92 Pisa syndrome, 90 91, 96 Musician s dystonia, Myectomy, 168, 173 MYOBLOC adverse effect profiles of, 132 properties of, 129, 131 Myoclonus-dystonia (MD) botulinum toxin injection, 66 genetic basis of, 66 GPi-DBS of, 177, 180 psychiatric disorders, 66 SGCE mutations, 38 valproate, 66 Myotomy, 165, 168, 172 N Neuroacanthocytosis, 71, 76 NeuroBloc, 129, 130 Neuronal ceroid lipofuscinosis, 69 Neurorehabilitation biofeedback, orthotic device, physical agents, 221 physical therapy interventions (see Physiotherapy) sensory stimulation, vestibular rehabilitation, Next-generation sequencing (NGS), 37, 41 Niemann-Pick disease, 69 O Occupational dystonia, 152 Off period dystonia, 77, 78 Oppenheim, Hermann, 3, 4 Organic dystonia abnormal cortical and spinal inhibition, abnormal self-directed attention, abnormal temporal discrimination, 108 mental rotation task, 108 peripheral trauma, 103 Orofacial dystonia, Oromandibular dystonia, 83, 122 P Paired associative stimulation (PAS) long-term potentiation, 17 motor evoked potentials, theta burst stimulation, 18 Paired transcranial magnetic stimulation (ptms), 8 Pallidotomy, 167, Parkinson s disease (PD), 71 abnormal synaptic plasticity, 196 age of onset, altered SSR receptive fields, atypical parkinsonism (see Atypical parkinsonian syndromes (APS)) axial dystonia, 76, 77 diphasic dystonia, 77, 78 DYT3/XPD (see X-linked dystonia parkinsonism (XDP)) early-morning dystonia, focal dystonias, 76, 77 Gd-PSP and Gd-PDC, 84 85, 87 Huntington s disease, 76, 86, 87 juvenile-onset PD, 79 80, 87

7 motor complications, 89 neurochemical abnormalities DYT5/DRD, 66, 83, 87 DYT16/early-onset dystonia, 84, 87 DYT12/RDP, 83 84, 87 GM1-gangliosidosis, 83, 87 off period dystonia, 77, 78 Parkinson-plus syndromes, peak-dose dystonia, 77, 78 pretreatment dystonia, 77, 78 primary parkinsonism, 75 SCA 2, 85, 87 SCA 3/MJD, 85, 87 secondary parkinsonism, 75 Wilson s disease, 76, 87 Paroxysmal dystonias PNKD (DYT8), 39 PRRT2 (DYT10), 40 psychogenic dystonia, 103 SLC2A1 (DYT18/DYT9), Paroxysmal exercise-induced dystonia (PED), 39 40, 106 Paroxysmal kinesigenic dyskinesia (PKD), 40, 106 Paroxysmal nonkinesigenic dyskinesia (PNKD), 39 PAS. See Paired associative stimulation (PAS) Pathophysiology, dystonia BGCT motor circuit, 187 abnormal sensorimotor coordination, 195 abnormal synaptic plasticity, altered discharge patterns, altered SSR receptive fields, and CBTC interactions and pathways, direct and indirect pathways, 19 20, reduced mean discharge rates, striatal-matrix pathways, imbalance in, 195 cerebellum, role of, 21 cortical plasticity, changes of, fixed dystonia ( see Functional loss of inhibition reciprocal inhibition, 14 SICI and surround inhibition, in spinal and brainstem reflexes, 14 TMS stimulus, 14 maladaptive plasticity, 22 multistep process, 22 sensory and sensorimotor integration abnormalities, Peak-dose dystonia, 77, Perinatal encephalopathy, 64 Pharmacotherapy, 123 anticholinergic drugs, 119 antidopaminergic drugs (see Antidopaminergic drugs) dopaminergic medications, in early childhood-onset dystonia, focal dystonia, 122 general schema of, 121, 122 Pharyngolaryngeal dystonia, 140 Physiognomy, 229 Physiotherapy cervical dystonia combined neck exercises and BoNT injections, 215 eyes and neck, coordination of, 213 laterocollis, 212 in myoclonic and tonic form, 210 neck and shoulders, coordination of, 213 neck and whole body, coordination of, rotational torticollis, focal hand dystonia and musician s dystonia conservative therapies, 217 fitness program, 217 lack of inhibition, 216 LBSMT program, 217 maladaptive sensorimotor plasticity, 216 motor output, 216 sensorimotor retuning therapy, 217 writer s cramp, Pisa syndrome in Alzheimer s disease, 90 botulinum toxin treatment, 96 dopaminergic medication, 91 drug treatment, 96 lateral axial dystonia, definition of, 91 non-dopaminergic therapies, 91 in parkinsonian patients, subacute dystonic reaction, 90 Pretreatment dystonia, 77, 78 Primary generalised dystonia (PGD) GPi-DBS of, GPi neurons altered discharge patterns, altered SSR receptive fields, Progressive supranuclear palsy (PSP) blepharospasm, 93 94, 96 Gd-PSP patients, limb dystonia, 93, 96 retrocollis, 94, 96

8 252 Progressive torsion spasms, 3, 49, 54 Proline-rich transmembrane protein 2 (PRRT2) gene, 40 Psychogenic dystonia. See Functional dystonia R Rapid-onset dystonia parkinsonism (RDP), 36, 83 84, 87 Readiness potential (RP), 8 Reciprocal inhibition, 7, 14 Refl ex sympathetic dystrophy, 65, 103 Regional pain syndrome (RPS), 6, 65 Retrocollis, 90, 94, 96 Rhizotomy, , 168, 172 Richardson s syndrome, 94 Riluzole, 121 Rondot, Pierre, 6 S Schwalbe, Gustav, 3, 4 Scoliosis, 90 Secondary dystonia, 76 athetoid cerebral palsy, 64 central nervous system, infections of, 65 clinical features, 61, 62 deep brain stimulation ( see Deep brain stimulation (DBS)) delayed-onset dystonia, 64 diffuse brain disorder, 63, 64 dopa-responsive dystonia (see Dopa responsive dystonia (DRD)) focal brain lesions, 62, 64 Friedreich s ataxia, 71 Hallervorden-Spatz disease, head trauma, 65 heredodegenerative dystonia (see Heredodegenerative myoclonus-dystonia (see Myoclonusdystonia (MD)) neuroacanthocytosis, 71 Parkinson s disease (see Parkinson s disease (PD)) perinatal encephalopathy, 64 peripheral trauma, 65 reflex sympathetic dystrophy, 65 regional pain syndrome, 65 syndromic associations and clinical clues in, 61, 62 Segawa s syndrome. See Dopa-responsive dystonia (DRD) Selective peripheral denervation (SPD), 166, Sensorimotor retuning therapy, 217 Sensory stimulation cervical dystonia, 218 focal hand dystonia, 219 Sepiapterin reductase (SPR), 35 36, 118 Short-interval intracortical inhibition (SICI), 14 15, 19, 107, 108 Somatosensory disorder, 6 Somatosensory evoked potentials (SEPs), 7, 16 Somatosensory response (SSR), Spastic dystonia, 64, 120 Spastic movement disorder, 64 SPD. See Selective peripheral denervation (SPD) Spindle thixotropy, 216 Spinocerebellar ataxias, 70 SCA 2, 85, 87 SCA 3/MJD, 85, 87 SSR. See Somatosensory response (SSR) Surgical treatment GPi-DBS (see Deep brain stimulation (DBS)) myectomy, 168, 173 myotomy, 165, 168, 172 pallidotomy, 167 rhizotomy, , 168, 172 selective peripheral denervation, 166, thalamotomy, Surround inhibition, Symptomatic dystonia. See Secondary dystonia T Tardive dystonia, 90, GPi-DBS, 180, 181 tetrabenazine, 120, 121 Task-specific dystonia, 6 7, 9, 122, 210 Tay-Sachs disease, 54 Tetanoid chorea, 3, 49 Tetrabenazine, 120, 123 Thalamotomy, Theta burst stimulation (TBS), 18 Tonic cramps, 3 Tonic paralysis, 103 Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), 136, 172, 173, Torsion dystonia, 3, 49 Torticolis spasmodique. See Cervical dystonia (CD) Transcranial magnetic stimulation (TMS), 14, 95

9 Transcutaneous electrical nerve stimulation (TENS), 221 Trihexyphenidyl, 119, 121, 123 Tsui scale, 136, 152, 156 Tyrosine hydroxylase (TH), 35, 118 U Unified Huntington s Disease Rating Scale (UHDRS), 180 V Vestibular rehabilitation (VR) cervical dystonia and dysphagia, 223, 224 definition, 223 goals, 223 habituation, adaptation and substitution, 223 W Whispering dysphonia, 34 Wilson s disease, 68, 76, 87, 89 Writer s cramp BoNT-A treatment long-term efficacy of, reasons for discontinuation, selection criteria, 156 BT therapy, categories, 152 diagnosis of, MEP size, PAS effects, physical therapy, PKD, 40 prevalence of, 152 X Xeomin, 128, 130 adverse effect profiles of, 132 properties of, 129, 131 X-linked dystonia parkinsonism (XDP), 37 38, 76, 87 age of onset, 80 bent head in, 82 cervical dystonia, 81 generalized dystonia, 82 genetics of, lower and upper limb dystonia, 81 medical treatment of, 82 prevalence, 80 truncal dystonia,