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Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease
Author(s) -
Ujike Hiroshi,
Yamamoto Mitsutoshi,
Kanzaki Akihiro,
Okumura Kazuya,
Takaki Manabu,
Kuroda Shigetoshi
Publication year - 2001
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200101)16:1<111::aid-mds1023>3.0.co;2-6
Subject(s) - parkin , parkinson's disease , disease , genetics , degenerative disease , heredity , consanguinity , medicine , age of onset , mutation , gene , biology
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. Mov. Disord. 16:111–113, 2001. © 2001 Movement Disorder Society.