[The genetics of Parkinson syndrome].

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Author(s): Klein C;Klein C
  • Source:
    Praxis [Praxis (Bern 1994)] 2001 Jun 07; Vol. 90 (23), pp. 1015-23.
  • Publication Type:
    Journal Article; Review
  • Language:
    German
  • Additional Information
    • Transliterated Title:
      Zur Genetik des Parkinson-Syndroms.
    • Source:
      Publisher: Aerzteverlag medinfo AG Country of Publication: Switzerland NLM ID: 101468093 Publication Model: Print Cited Medium: Print ISSN: 1661-8157 (Print) Linking ISSN: 16618157 NLM ISO Abbreviation: Praxis (Bern 1994) Subsets: MEDLINE
    • Publication Information:
      Publication: 2023- : Erlenbach : Aerzteverlag medinfo AG
      Original Publication: Bern : Hallwag
    • Subject Terms:
      Ubiquitin-Protein Ligases*; Parkinson Disease/*genetics; Chromosome Aberrations/genetics ; Chromosome Disorders ; Chromosome Mapping ; Genes, Dominant ; Genes, Recessive ; Genetic Predisposition to Disease/genetics ; Humans ; Ligases/genetics ; Mutation/genetics ; Parkinson Disease/diagnosis
    • Abstract:
      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.
    • Number of References:
      18
    • Accession Number:
      EC 2.3.2.27 (Ubiquitin-Protein Ligases)
      EC 2.3.2.27 (parkin protein)
      EC 6.- (Ligases)
    • Publication Date:
      Date Created: 20010713 Date Completed: 20010906 Latest Revision: 20161124
    • Publication Date:
      20231215
    • Accession Number:
      11447721