Autosomal dominant spinocerebellar ataxias ad infinitum?
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The inherited ataxias have always been a clinician’s nightmare. Molecular geneticists have documented the genetic heterogeneity of progressive autosomal dominant ataxias, which are now labeled “spinocerebellar ataxia” (SCA) and are followed by a number assigned for each new gene locus. In this issue of Neurology, O’Hearn et al.1 address the phenotype associated with the SCA 12 mutation first described in December 1999,2 and Worth and Wood3 document the rarity of this mutation among patients at a referral institution in the UK. The dizzying pace of gene discovery is such that the list has already grown to 16 ( table 1). The table does not include the dominantly inherited episodic ataxias (EA) related to point mutations in channel proteins; EA 2, …
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