Article
Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease.
Brain : a journal of neurology - 1 Jan 2003
Kobayashi Hirokazu, Krüger Rejko, Markopoulou Katerina, Wszolek Zbigniew, Chase Bruce, Taka Hikaru, Mineki Reiko, Murayama Kimie, Riess Olaf, Mizuno Yoshikuni, Hattori Nobutaka
Abstract excerpt
To date, two point mutations, G209A and G88C, have been reported in the coding region of the alpha-synuclein gene in autosomal dominant familial Parkinson's disease. When translated, these lead to the missense mutations Ala53Thr and Ala30Pro, respectively. Reduced mRNA expression of the G209A allele was reported recently in a Greek-American family. Here, we show that alpha-synuclein mRNA is normally expressed in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.