Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-gvvz8 Total loading time: 0 Render date: 2024-12-22T21:30:22.297Z Has data issue: false hasContentIssue false

Section 2 - Dystonia

Published online by Cambridge University Press:  04 July 2017

Kailash P. Bhatia ,
Roberto Erro  and
Maria Stamelou
Kailash P. Bhatia
Affiliation:
Institute of Neurology, University College London
Roberto Erro
Affiliation:
Università degli Studi di Salerno, Italy
Maria Stamelou
Affiliation:
University of Athens, Greece
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Case Studies in Movement Disorders
Common and Uncommon Presentations
 , pp. 38 - 70
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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
Müller, U. The monogenic primary dystonias. Brain. 2009;132:2005–25.Google Scholar
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

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

  • Dystonia
  • Kailash P. Bhatia, Institute of Neurology, University College London, Roberto Erro, Maria Stamelou, University of Athens, Greece
  • Book: Case Studies in Movement Disorders
  • Online publication: 04 July 2017
  • Chapter DOI: https://doi.org/10.1017/9781316145050.016
Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

  • Dystonia
  • Kailash P. Bhatia, Institute of Neurology, University College London, Roberto Erro, Maria Stamelou, University of Athens, Greece
  • Book: Case Studies in Movement Disorders
  • Online publication: 04 July 2017
  • Chapter DOI: https://doi.org/10.1017/9781316145050.016
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Dystonia
  • Kailash P. Bhatia, Institute of Neurology, University College London, Roberto Erro, Maria Stamelou, University of Athens, Greece
  • Book: Case Studies in Movement Disorders
  • Online publication: 04 July 2017
  • Chapter DOI: https://doi.org/10.1017/9781316145050.016
Available formats
×