Article
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.
Clinical neurology and neurosurgery - 1 Feb 2009
Miura Shiroh, Nakagawara Hiroko, Kaida Hayato, Sugita Minoru, Noda Kazuhito, Motomura Kyoko, Ohyagi Yasumasa, Ayabe Mitsuyoshi, Aizawa Hisamichi, Ishibashi Masatoshi, Taniwaki Takayuki
Abstract excerpt
Two cases of spinocerebellar ataxia type 14 (SCA14) with a G128D mutation in the protein kinase C gamma gene (PRKCG) without a definite family history have been reported previously. Here, we describe the first familial cases of SCA14 with a G128D mutation in PRKCG. Among three family members, the chief complaints varied and included ataxic gait, cervical dystonia, and positional vertigo. Moreover, retinal...
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