title: Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.
abstract: Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.
authors.affiliation: Department of Neuropsychiatry, Okayama University Medical School, Japan. hujike@cc.okayama-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Ujike
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: A
authors.initials: A
authors.lastname: Kanzaki
authors.forename: K
authors.initials: K
authors.lastname: Okumura
authors.forename: M
authors.initials: M
authors.lastname: Takaki
authors.forename: S
authors.initials: S
authors.lastname: Kuroda
mesh_terms: D017668:Age of Onset; D000368:Aged; D002391:Catchment Area, Health; D015331:Cohort Studies; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008025:Ligases; D008297:Male; D020734:Parkinsonian Disorders / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases