Article
Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.
Archives of neurology - 1 Apr 2008
Ikeuchi Takeshi, Kakita Akiyoshi, Shiga Atsushi, Kasuga Kensaku, Kaneko Hiryoyuki, Tan Chun-Feng, Idezuka Jiro, Wakabayashi Koichi, Onodera Osamu, Iwatsubo Takeshi, Nishizawa Masatoyo, Takahashi Hitoshi, Ishikawa Atsushi
Abstract excerpt
BACKGROUND: Multiplication of the alpha-synuclein gene (SNCA) (OMIM 163890) has been identified as a causative mutation in hereditary Parkinson disease or dementia with Lewy bodies. OBJECTIVE: To determine the genetic, biochemical, and neuropathologic characteristics of patients with autopsy-confirmed autosomal dominant Lewy body disease, with particular reference to the dosage effects of SNCA. DESIGN:...
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