RT Journal Article
SR Electronic
T1 Autosomal recessive cerebellar ataxias: the current state of affairs
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 651
OP 659
DO 10.1136/jmedgenet-2011-100210
VO 48
IS 10
A1 S Vermeer
A1 B P C van de Warrenburg
A1 M A A P Willemsen
A1 M Cluitmans
A1 H Scheffer
A1 B P Kremer
A1 N V A M Knoers
YR 2011
UL http://jmg.bmj.com/content/48/10/651.abstract
AB Among the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs) encompass a diverse group of rare neurodegenerative disorders in which a cerebellar syndrome is the key clinical feature. The clinical overlap between the different cerebellar ataxias, the occasional atypical phenotypes, and the genetic heterogeneity often complicate the clinical management of such patients. Despite the steady increase in newly discovered ARCA genes, many patients with a putative ARCA cannot be genotyped yet, proving that more genes must be involved. This review presents an updated overview of the various ARCAs. The clinical and genetic characteristics of those forms with a known molecular genetic defect are discussed, along with the emerging insights in the underlying pathophysiological mechanisms.