Abstract
This autosomal dominant condition, which is common among those of Portuguese or Azorean descent, is characterized by progressive cerebellar ataxia, parkinsonism, dystonia, eyelid retraction with bulging eyes, and bulbar fasciculation. Considerable variation within and between families is noted. Classified phenotypically within the category of autosomal dominant cerebellar ataxia (ADCA) type I, its genetic basis has been shown to be mutation of a gene, ATXN3, at chromosome 14q32.1, with a trinucleotide (CAG) expansion (normal 13–44; abnormal 65–84 repeats) affecting expression of the ataxin 3 protein. Hence, Machado–Joseph disease is now classified as spinocerebellar ataxia (SCA) type 3, and one of the trinucleotide repeat diseases. This is the most common of the SCAs.
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© 2011 Springer-Verlag London Limited
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Larner, A.J., Coles, A.J., Scolding, N.J., Barker, R.A. (2011). M. In: A-Z of Neurological Practice. Springer, London. https://doi.org/10.1007/978-1-84882-994-7_13
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DOI: https://doi.org/10.1007/978-1-84882-994-7_13
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