A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects.

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Inherited ataxias are a heterogeneous group of disorders characterized by autosomal dominant and recessive inheritance . Recent advances in genetic research have resulted in an improved comprehension of their clinical presentation . Autosomal dominant cerebellar ataxias (ADCAs ) include spinocerebellar ataxias (SCAs ) and dentatorubral-pallidoluysian atrophy (DRPLA ); six of these have been found to be trinucleotide repeat disorders . Episodic ataxia , types 1 and 2 , are at present recognized to be channelopathies , caused by point mutations . Friedreich 's ataxia (FA ) which is an autosomal recessive disorder , resulting from a a unique trinucleotide repeat , is now recognized to have a wide age of onset and clinical spectrum . Ataxia-telangiectasia (AT ), also an autosomal recessive cerebellar ataxia , is characterized by immunodeficiency . In this article , the genetic and clinical characteristics of these diseases are reviewed in detail .