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Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ‐globulin, and α‐fetoprotein
Author(s) -
Watanabe Mitsunori,
Sugai Yoshiro,
Concan Patrick,
Koenig Michel,
Schmitt MichèLe,
Sato Madoka,
Shizuka Masami,
Mizushima Kazuyuki,
Ikeda Yoshio,
Tomidokoro Yasushi,
Okamoto Koichi,
Shoji Mikio
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440220
Subject(s) - medicine , ataxia telangiectasia , ataxia , peripheral neuropathy , creatine kinase , spinocerebellar ataxia , polyneuropathy , endocrinology , cerebellar ataxia , biology , genetics , dna , dna damage , psychiatry , diabetes mellitus
Here, we report a familial spinocerebellar ataxia (FSCA), which has clinical features similar to Friedreich's ataxia, an ataxia with isolated vitamin E deficiency, and ataxia telangiectasia. However, the serum levels of creatine kinase, γ‐globulin, and α‐fetoprotein were elevated, and biochemical and genetic analyses ruled out diagnosis of these three ataxias as well as other FSCAs. Thus, this family is thought to have a new type of FSCA.