English Journal

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.

Shimazaki H1, Takiyama Y, Sakoe K, Amaike M, Nagaki H, Namekawa M, Sasaki H, Nakano I, Nishizawa M.
Journal of the neurological sciences.J Neurol Sci.2001 Apr 1;185(2):101-7.
Intergenerational stability of the CAG repeat number has been considered to be a specific molecular feature of SCA6 compared with other CAG repeat diseases. Nevertheless, we showed meiotic instability of the CAG repeats in the SCA6/CACNL1A gene in two Japanese SCA6 families, including de novo expans
PMID 11311290

[Molecular and clinical features in spinocerebellar ataxia type 6 (SCA6) in Japanese].

Ikeuchi T.
Nihon rinsho. Japanese journal of clinical medicine.Nihon Rinsho.1999 Apr;57(4):891-5.
Spinocerebellar ataxia type 6 (SCA6, MIM 183086) is an autosomal dominant spinocerebellar degeneration. Mild expansion of a CAG repeat in voltage-dependent Ca2+ channel alpha 1A subunit (CACNL1A) gene, which was predicted to encode a polyglutamine tract, has been identified as a causative mutation f
PMID 10222785

Japanese Journal

Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis

竹島多賀夫,中島健二
日本内科学会雑誌 90(4), 86-91, 2001-04-10
… 片頭痛が分子生物学的なレベルで解明されつつある.家族性片麻痺性片頭痛の原因遺伝子としてCaチャンネル(CACNL1A4)遺伝子の変異が, CADASILの原因遺伝子としてnotch3の変異が同定された.また,片頭痛発症の遺伝的危険因子の候補として,セロトニン受容体及びドパミン受容体の遺伝子多型のほか,メチレンテトラヒドロ葉酸還元酵素(MTHFR),アンギオテンシン変換酵素(ACE)の遺伝子多型が検討されている. …
NAID 10007312581