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Ann Neurol. 1998 Aug;44(2):265-9.

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

Author information

1
Department of Neurology, Sawatari Spa Hospital, Gunma Medical Association, Agatsumagun, Japan.

Abstract

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, gamma-globulin, and alpha-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.

PMID:
9708552
DOI:
10.1002/ana.410440220
[Indexed for MEDLINE]

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