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

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

    36 Citations (Scopus)

    Abstract

    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.

    Original languageEnglish
    Pages (from-to)651-659
    Number of pages9
    JournalJournal of Medical Genetics
    Volume48
    Issue number10
    DOIs
    Publication statusPublished - Oct-2011

    Keywords

    • VITAMIN-E-DEFICIENCY
    • OCULOMOTOR APRAXIA TYPE-2
    • STRAND-BREAK REPAIR
    • TELANGIECTASIA-LIKE DISORDER
    • MARINESCO-SJOGREN-SYNDROME
    • PLACEBO-CONTROLLED TRIAL
    • OCULAR MOTOR APRAXIA
    • DEL-A MUTATION
    • FRIEDREICHS-ATAXIA
    • SPASTIC ATAXIA

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