Dominantly inherited ataxias.
The autosomal dominant ataxias continue to bewilder us as the enormity of their genetic heterogeneity continues to unfold. The Human Genome Organization website now lists 22 such ataxias, not including dentatorubral-pallidoluysian atrophy. The early genetic discoveries in this field included several disorders caused by CAG repeat expansions within coding regions of the respective genes. More recent discoveries have included unstable expansions of nucleotide repeats in noncoding regions of genes as well as point mutations that have formed the basis of progressive dominant ataxias. This article summarizes the clinical and genetic features of the currently identified dominant ataxias.
Gomez
Christopher M
CM
Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.
Subramony
S H
SH
D005799:Genes, Dominant; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D017354:Point Mutation / Q000235:genetics / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D005973:Glutamine