Book contents
- Case Studies in Movement Disorders
- Case Studies in Movement Disorders
- Copyright page
- Contents
- Video Captions
- Contributors
- Preface
- Previously Published Cases
- Abbreviations
- Section 1 Parkinsonism
- Section 2 Dystonia
- 16 Early Onset Early Onset Generalized Dystonia: DYT1
- 17 Early Onset Jerky Dystonia: An Uncommon Phenotype of DYT1
- 18 Early Onset Generalized Dystonia with Cranio-Cervical Involvement: DYT6
- 19 Autosomal Recessive Isolated Generalized Dystonia: DYT2
- 20 Dopa-Responsive Dystonia
- 21 A Complicated Dopa-Responsive Dystonia: Tyrosine Hydroxylase Deficiency
- 22 Early Onset Generalized Dystonia and Macrocephaly: Glutaric Aciduria Type 1
- 23 PKAN Misdiagnosed as ‘Progressive Delayed-Onset Postanoxic Dystonia’
- 24 Oromandibular Dystonia and Freezing of Gait: A Novel Presentation of Neuroferritinopathy
- 25 Generalized Dystonia with Oromandibular Involvement and Self-mutilations: Lesch–Nyhan Syndrome
- 26 Dystonia Complicated by Pyramidal Signs, Parkinsonism, and Cognitive Impairment: HSP11
- 27 H-ABC Syndrome
- 28 Tardive Dystonic Opisthotonus
- 29 Delayed Onset Dystonia after Lightning Strike
- Section 3 Tics
- Section 4 Chorea
- Section 5 Tremor
- Section 6 Myoclonus
- Section 7 Ataxia
- Index
- Plate section
- References
18 - Early Onset Generalized Dystonia with Cranio-Cervical Involvement: DYT6
from Section 2 - Dystonia
Published online by Cambridge University Press: 04 July 2017
Book contents
- Case Studies in Movement Disorders
- Case Studies in Movement Disorders
- Copyright page
- Contents
- Video Captions
- Contributors
- Preface
- Previously Published Cases
- Abbreviations
- Section 1 Parkinsonism
- Section 2 Dystonia
- 16 Early Onset Early Onset Generalized Dystonia: DYT1
- 17 Early Onset Jerky Dystonia: An Uncommon Phenotype of DYT1
- 18 Early Onset Generalized Dystonia with Cranio-Cervical Involvement: DYT6
- 19 Autosomal Recessive Isolated Generalized Dystonia: DYT2
- 20 Dopa-Responsive Dystonia
- 21 A Complicated Dopa-Responsive Dystonia: Tyrosine Hydroxylase Deficiency
- 22 Early Onset Generalized Dystonia and Macrocephaly: Glutaric Aciduria Type 1
- 23 PKAN Misdiagnosed as ‘Progressive Delayed-Onset Postanoxic Dystonia’
- 24 Oromandibular Dystonia and Freezing of Gait: A Novel Presentation of Neuroferritinopathy
- 25 Generalized Dystonia with Oromandibular Involvement and Self-mutilations: Lesch–Nyhan Syndrome
- 26 Dystonia Complicated by Pyramidal Signs, Parkinsonism, and Cognitive Impairment: HSP11
- 27 H-ABC Syndrome
- 28 Tardive Dystonic Opisthotonus
- 29 Delayed Onset Dystonia after Lightning Strike
- Section 3 Tics
- Section 4 Chorea
- Section 5 Tremor
- Section 6 Myoclonus
- Section 7 Ataxia
- Index
- Plate section
- References
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- Information
- Case Studies in Movement DisordersCommon and Uncommon Presentations, pp. 44 - 45Publisher: Cambridge University PressPrint publication year: 2017
References
Suggested Readings
Blanchard, A, Ea, V, Roubertie, A, et al. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011;32:1213–24.CrossRefGoogle ScholarPubMed
Panov, F, Tagliati, M, Ozelius, LJ, et al. Pallidal deep brain stimulation for DYT6 dystonia. J Neurol Neurosurg Psychiatry. 2012;83:182–7.CrossRefGoogle ScholarPubMed
Xiromerisiou, G, Houlden, H, Scarmeas, N, et al. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012;27:1290–4.CrossRefGoogle ScholarPubMed