[The genetics of Parkinson syndrome].
A genetic contribution to the etiology of Parkinson's disease was first suspected by Charcot and later confirmed by case control, family, and twin studies, as well as by the description of large parkinsonian families with Mendelian inheritance of the disease. Recent progress in the field of molecular neurogenetics has led to the identification of several Parkinson disease genes and gene loci. Mutations in the alpha-Synuclein gene (PARK1) and in the gene for the ubiquitin C-terminal hydrolase I (PARK5), along with two gene loci harboring currently unknown genes (PARK3 and PARK4), have been linked to very rare autosomal dominantly inherited parkinsonian syndromes. Mutations in the parkins gene (PARK2), causing autosomal recessive early-onset parkinsonism, are much more common and therefore of clinical relevance. A second gene locus for an autosomal dominantly inherited Parkinsonian syndrome was recently localized on chromosome 1 (PARK6). All three parkinson genes identified thus far imply the involvement of the ubiquitin pathway of protein degradation in the pathogenesis of Parkinson's disease.
Klein
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Klinik für Neurologie des Universitätsklinikums Lübeck.
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D005799:Genes, Dominant; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008025:Ligases / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases