From gene to disease; autosomal dominant cerebellar ataxias

H P Kremer, B P van de Warrenburg, R J Sinke

    Research output: Contribution to journalArticleAcademic

    Abstract

    The autosomal dominant cerebellar ataxias (ADCAs) are a clinically homogeneous, yet genetically heterogeneous group of cerebellar neurodegenerative disorders for which at least 20 genes or loci have been identified to date. Trinucleotide repeat expansions constitute the predominant pathogenic mutations in about two-thirds of Dutch families with ADCAs, even though the mutational mechanisms are variable as well.

    Translated title of the contributionFrom gene to disease; autosomal dominant cerebellar ataxias
    Original languageDutch
    Pages (from-to)614-6
    Number of pages3
    JournalNederlands Tijdschrift voor de Geneeskunde
    Volume148
    Issue number13
    Publication statusPublished - 27-Mar-2004

    Keywords

    • Cerebellar Ataxia
    • DNA Mutational Analysis
    • Genotype
    • Humans
    • Mutation
    • Netherlands
    • Trinucleotide Repeat Expansion

    Cite this