Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ‐globulin, and α‐fetoprotein
- 1 August 1998
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 44 (2) , 265-269
- https://doi.org/10.1002/ana.410440220
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, 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.Keywords
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