Recent advances in hereditary spinocerebellar ataxias.
In 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.
van de Warrenburg
Bart P C
BP
Department of Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands. b.vandewarrenburg@neuro.umcn.nl
Sinke
Richard J
RJ
Kremer
Berry
B
D001370:Axonal Transport / Q000502:physiology; D020013:Calcium Signaling / Q000502:physiology; D004260:DNA Repair / Q000502:physiology; D005799:Genes, Dominant; D005808:Genes, Recessive; D006133:Growth Substances / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000502:physiology; D018832:Molecular Chaperones / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D046988:Proteasome Endopeptidase Complex / Q000378:metabolism; D017510:Protein Folding; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D014158:Transcription, Genetic; D018911:Trinucleotide Repeats / Q000235:genetics*; D025801:Ubiquitin / Q000378:metabolism
D006133:Growth Substances; D018832:Molecular Chaperones; D025801:Ubiquitin; D046988:Proteasome Endopeptidase Complex