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Spinocerebellar Ataxia-Type 3

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

Spinocerebellar ataxia-type 3 (SCA3) or Machado-Joseph disease (MJD) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction, and movement disorder. It is the most common SCA with a worldwide distribution and, contrary to early reports, is not limited to individuals of Azorean ancestry. MJD/SCA3 is caused by CAG repeat expansion mutations in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Expanded CAG repeat lengths correlate with the range and severity of clinical manifestations and inversely correlate with age of disease onset.

Keywords

Smooth Pursuit Cerebellar Ataxia Early Onset Patient ATXN3 Gene Blink Frequency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

There is facial masking and marked right laterocollis. He exhibits severe intention tremor together with a milder tremor at rest. Finger-nose testing is difficult due to severe tremor and ataxia. Pursuit eye movements are absent and he is unable to protrude his tongue.

SCA type 3.mp4(MP4 27,073KB)

References

  1. 1.
    Nakano KK, Dawson DM, Spence A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology. 1972;22:49–55.PubMedCrossRefGoogle Scholar
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    Rosenberg RN. Mchado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord. 1992;7:193–203.PubMedCrossRefGoogle Scholar
  3. 3.
    Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221–8.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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