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Section 7 - Ataxia

Published online by Cambridge University Press:  04 July 2017

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
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Chapter
Information
Case Studies in Movement Disorders
Common and Uncommon Presentations
, pp. 134 - 150
Publisher: Cambridge University Press
Print publication year: 2017

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References

Suggested Readings

Rossi, M, Perez-Lloret, S, Cerquetti, D, et al. Movement disorders in autosomal dominant cerebellar aaxias: a systematic review. Mov Disord Clin Pract. 2014;1:154–60.CrossRefGoogle ScholarPubMed
Solodkin, A, Gomez, CM. Spinocerebellar ataxia type 6. Handb Clin Neurol. 2012;103:461–73.CrossRefGoogle ScholarPubMed

Suggested Readings

Lin, DJ, Hermann, KL, Schmahmann, JD. Multiple system atrophy of the cerebellar type: clinical state of the art. Mov Disord. 2014;29:294304.CrossRefGoogle ScholarPubMed
Wenning, GK, Kraft, E, Beck, RW, et al. Cerebellar presentation of multiple system atrophy. Mov Disord. 1997;12:115–17.Google ScholarPubMed

Suggested Readings

Apartis, E, Blancher, A, Meissner, WG, et al. FXTAS: new insights and the need for revised diagnostic criteria. Neurology. 2012;79:1898–907.CrossRefGoogle ScholarPubMed
Kamm, C, Healy, DG, Quinn, NP, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain. 2005;128(Pt 8):1855–60.CrossRefGoogle ScholarPubMed
Renaud, M, Perriard, J, Coudray, S, et al. Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice. J Neurol. 2015;262:435–42.CrossRefGoogle ScholarPubMed

Suggested Readings

Hanisch, F, Kornhuber, M, Alston, CL, Taylor, RW, Deschauer, M, Zierz, S. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. J Neurol Neurosurg Psychiatry. 2015;86:630–4.CrossRefGoogle Scholar
Milone, M, Massie, R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010;16:8491.CrossRefGoogle ScholarPubMed

Suggested Readings

Charlesworth, G, Mohire, MD, Schneider, SA, Stamelou, M, Wood, NW, Bhatia, KP. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology. 2013;81:1148–51.Google Scholar
Chun, HH, Gatti, RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004;3:1187–96.CrossRefGoogle ScholarPubMed
Méneret, A, Ahmar-Beaugendre, Y, Rieunier, G, et al. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology. 2014;83:1087–95.CrossRefGoogle ScholarPubMed

Suggested Readings

Höftberger, R, Rosenfeld, MR, Dalmau, J. Update on neurological paraneoplastic syndromes. Curr Opin Oncol. 2015;27:489–95.CrossRefGoogle ScholarPubMed
Mitoma, H, Hadjivassiliou, M, Honnorat, J. Guidelines for treatment of immune-mediated cerebellar ataxias. Cerebellum Ataxias. 2015;2:14.CrossRefGoogle ScholarPubMed

Suggested Readings

Durr, A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9:885–94.CrossRefGoogle ScholarPubMed
Jacobi, H, Bauer, P, Giunti, P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011;77:1035–41.CrossRefGoogle ScholarPubMed
Nakano, KK, Dawson, DM, Spence, A. Machado disease: a hereditary ataxia in Portuguese immigrants to Massachusetts. Neurology. 1972;22:4955.CrossRefGoogle Scholar

Suggested Readings

Mengel, E, Klünemann, HH, Lourenço, CM, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8:166.CrossRefGoogle ScholarPubMed
Patterson, MC, Hendriksz, CJ, Walterfang, M, Sedel, F, Vanier, MT, Wijburg, F. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.CrossRefGoogle ScholarPubMed
Sévin, M, Lesca, G, Baumann, N, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120–33.Google ScholarPubMed

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  • Ataxia
  • 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/10.1017/9781316145050.062
Available formats
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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.

  • Ataxia
  • 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/10.1017/9781316145050.062
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.

  • Ataxia
  • 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/10.1017/9781316145050.062
Available formats
×