Autosomal recessive cerebellar ataxias: the current state of affairs

S. Vermeer*, B. P. C. van de Warrenburg, M. A. A. P. Willemsen, M. Cluitmans, H. Scheffer, B. P. Kremer, N. V. A. M. Knoers

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    32 Citaten (Scopus)

    Samenvatting

    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.

    Originele taal-2English
    Pagina's (van-tot)651-659
    Aantal pagina's9
    TijdschriftJOURNAL OF MEDICAL GENETICS
    Volume48
    Nummer van het tijdschrift10
    DOI's
    StatusPublished - okt-2011

    Citeer dit