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
- Section 3 Tics
- Section 4 Chorea
- Section 5 Tremor
- Section 6 Myoclonus
- Section 7 Ataxia
- Index
- Plate section
- References
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
- Section 3 Tics
- Section 4 Chorea
- Section 5 Tremor
- Section 6 Myoclonus
- Section 7 Ataxia
- Index
- Plate section
- References
Summary
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- Type
- Chapter
- Information
- Case Studies in Movement DisordersCommon and Uncommon Presentations, pp. 38 - 70Publisher: Cambridge University PressPrint publication year: 2017
References
Suggested Readings
Bressman, SB, Sabatti, C, Raymond, D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000;54:1746–52.CrossRefGoogle ScholarPubMed
Valente, EM, Warner, TT, Jarman, PR, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain. 1998;121:2335–9.CrossRefGoogle ScholarPubMed
Suggested Readings
Chinnery, PF, Reading, PJ, McCarthy, EL, et al. Late onset axial jerky dystonia due to the DYT1 deletion. Mov Disord. 2002;17:196–8.CrossRefGoogle Scholar
Edwards, M, Wood, N, Bhatia, K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord. 2003;18:706–11.CrossRefGoogle Scholar
Gatto, EM, Pardal, MM, Micheli, FE. Unusual phenotypic expression of the DYT1 mutation. Parkinsonism Relat Disord. 2003;9:277–9.Google Scholar
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.Google Scholar
Suggested Readings
Charlesworth, G, Angelova, PR, Bartolomé-Robledo, F, et al. Mutations in HPCA cause autosomal-recessive primary isolated dystonia. Am J Hum Genet. 2015;96:657–65.Google Scholar
Domingo, A, Erro, R, Lohmann, K. Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord. 2016;31:471–7.CrossRefGoogle ScholarPubMed
Khan, NL, Wood, NW, Bhatia, KP. Autosomal recessive, DYT2-like primary torsion dystonia – a new family. Neurology. 2003;61:1801–3.Google Scholar
Suggested Readings
Segawa, M. Dopa-responsive dystonia. Handb Clin Neurol. 2011;100:539–57.CrossRefGoogle ScholarPubMed
Tadic, V, Kasten, M, Brüggemann, N, Stiller, S, Hagenah, J, Klein, C. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol. 2012;69:1558–62.CrossRefGoogle ScholarPubMed
Wijemanne, S, Jankovic, J. Dopa-responsive dystonia-clinical and genetic heterogeneity. Nat Rev Neurol. 2015;11:414–24CrossRefGoogle ScholarPubMed
Suggested Readings
de Rijk-van Andel, JF, Gabreels, FJM, Geurtz, B, et al. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology. 2000;55:1926–8.CrossRefGoogle ScholarPubMed
Lee, WW, Jeon, BS. Clinical spectrum of dopa-responsive dystonia and related disorders. Curr Neurol Neurosci Rep. 2014;14:461.CrossRefGoogle ScholarPubMed
Willemsen, MA, Verbeek, MM, Kamsteeg, EJ, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain. 2010;133:1810–22.CrossRefGoogle ScholarPubMed
Suggested Readings
Kölker, S, Christensen, E, Leonard, JV, et al. Diagnosis and management of glutaric aciduria type I revised recommendations. J Inherit Metab Dis. 2011;34(3):677–94.Google Scholar
van Egmond, ME, Kuiper, A, Eggink, H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015;86:774–81.CrossRefGoogle Scholar
Suggested Readings
Kruer, MC, Boddaert, N, Schneider, SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol. 2012;33:407–14.CrossRefGoogle ScholarPubMed
Schneider, SA, Hardy, J, Bhatia, KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 2012;27:42–53.CrossRefGoogle ScholarPubMed
Suggested Readings
Batla, A, Adams, M, Erro, R, et al. Cortical pencil lining in neuroferritinopathy: a diagnostic clue. Neurology. 2015;84:1816–18.CrossRefGoogle ScholarPubMed
Chinnery, PF, Crompton, DE, Birchall, D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain. 2007;130:110–9.Google ScholarPubMed
Lehn, A, Boyle, R, Brown, H, Airey, C, Mellick, G. Neuroferritinopathy. Parkinsonism Relat Disord. 2012;18:909–15.CrossRefGoogle ScholarPubMed
Suggested Readings
Jinnah, HA, Friedmann, T. Lesch–Nyhan disease and its variants. In: Valle, D, Beaudet, AL, Vogelstein, B, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). 2015. New York: McGraw-Hill. Chap. 107.Google Scholar
Robey, KL, Reck, JF, Giacomini, KD, Barabas, G, Eddey, GE. Modes and patterns of self-mutilation in persons with Lesch–Nyhan disease. Dev Med Child Neurol. 2003;45:167–71.Google Scholar
Schretlen, DJ, Ward, J, Meyer, SM, et al. Behavioral aspects of Lesch–Nyhan disease and its variants. Dev Med Child Neurol. 2005;47:673–7.Google Scholar
Suggested Readings
Abdel Aleem, A, Abu-Shahba, N, Swistun, D, et al. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. Eur J Med Genet. 2011;54:82–5.Google ScholarPubMed
Paisán-Ruiz, C, Guevara, R, Federoff, M, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord. 2010;25:1791–800.CrossRefGoogle ScholarPubMed
Schneider, SA, Mummery, CJ, Mehrabian, M, Houlden, H, Bain, PG. SPG11 presenting with tremor. Tremor Other Hyperkinet Mov (N Y). 2012;2. pii: tre-02-104-666-1.Google ScholarPubMed
Suggested Readings
Erro, R, Hersheson, J, Ganos, C, et al. H-ABC syndrome and DYT4: variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord. 2015;30:828–33.Google Scholar
Hamilton, EM, Polder, E, Vanderver, A, et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain. 2014;137:1921–30.CrossRefGoogle ScholarPubMed
van der Knaap, MS, Naidu, S, Pouwels, PJ, et al. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol. 2002;23:1466–74.Google Scholar
Suggested Readings
Kang, UJ, Burke, RE, Fahn, S. Natural history and treatment of tardive dystonia. Mov Disord. 1986;1:193–208.Google Scholar
Molho, ES, Feustel, PJ, Factor, SA. Clinical comparison of tardive and idiopathic cervical dystonia. Mov Disord. 1998;13:486–9.CrossRefGoogle ScholarPubMed
Suggested Readings
Burke, RE, Fahn, S, Gold, AP. Delayed-onset dystonia in patients with ‘static’ encephalopathy. J Neurol Neurosurg Psychiatry. 1980;43(9):789–97.Google Scholar
Cherington, M. Neurologic manifestations of lightning strikes. Neurology. 2003;60(2):182–5.Google Scholar
O’Brien, CF. Involuntary movement disorders following lightning and electrical injuries. Semin Neurol. 1995;15(3):263–7.Google ScholarPubMed