Article
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
American journal of human genetics - 1 Aug 2005
Ishikawa Kinya, Toru Shuta, Tsunemi Taiji, Li Mingshun, Kobayashi Kazuhiro, Yokota Takanori, Amino Takeshi, Owada Kiyoshi, Fujigasaki Hiroto, Sakamoto Masaki, Tomimitsu Hiroyuki, Takashima Minoru, Kumagai Jiro, Noguchi Yoshihiro, Kawashima Yoshiyuki, Ohkoshi Norio, Ishida Gen, Gomyoda Manabu, Yoshida Mari, Hashizume Yoshio, Saito Yuko, Murayama Shigeo, Yamanouchi Hiroshi, Mizutani Toshio, Kondo Ikuko, Toda Tatsushi, Mizusawa Hidehiro
Abstract excerpt
Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders. By positional cloning, we have identified the gene strongly associated with a form of degenerative ataxia (chromosome 16q22.1-linked ADCA) that clinically shows progressive pure cerebellar ataxia. Detailed examination by use of audiogram suggested that sensorineural hearing impairment may be associated with ataxia...
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