• J. Neuropathol. Exp. Neurol. · Mar 2005

    Review

    Recent advances in hereditary spinocerebellar ataxias.

    • Bart P C van de Warrenburg, Richard J Sinke, and Berry Kremer.
    • Department of Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands. b.vandewarrenburg@neuro.umcn.nl
    • J. Neuropathol. Exp. Neurol. 2005 Mar 1;64(3):171-80.

    AbstractIn recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias. These advances have also allowed insight in (some of) the pathophysiologic pathways assumed to be involved in these diseases. For the clinician, the expanding number of genes and genetic loci in these diseases and the enormous clinical heterogeneity of specific ataxia subtypes complicate management of ataxia patients. In this review, the clinical and neuropathologic features of the recently identified spinocerebellar ataxias are described, and the various molecular mechanisms that have been demonstrated to be involved in these disorders are discussed.

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