Autosomal recessive cerebellar ataxias: the current state of affairs
until further notice
SourceJournal of Medical Genetics, 48, 10, (2011), pp. 651-659
Article / Letter to editor
Display more detailsDisplay less details
Journal of Medical Genetics
SubjectDCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders DCN 2: Functional Neurogenomics; NCMLS 6: Genetics and epigenetic pathways of disease IGMD 9: Renal disorder
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.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.