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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Ataxia Telangiectasia / blood
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Ataxia Telangiectasia / complications
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Ataxia Telangiectasia / genetics
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Atrophy
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Biopsy
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Brain / diagnostic imaging
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Brain / pathology
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Cerebellum / pathology
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Creatine Kinase / blood*
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DNA / analysis
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Female
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Humans
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Immunoglobulin G / blood
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Magnetic Resonance Imaging
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Male
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Median Nerve / physiopathology
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Muscle, Skeletal / pathology
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Neural Conduction
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Pedigree
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Peripheral Nervous System Diseases / blood*
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Peripheral Nervous System Diseases / complications
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Peripheral Nervous System Diseases / diagnosis
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Psychomotor Performance
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Spinocerebellar Degenerations / blood*
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Spinocerebellar Degenerations / classification
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Spinocerebellar Degenerations / genetics*
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Sural Nerve / pathology
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Tibial Nerve / physiopathology
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Tomography, X-Ray Computed
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Vitamin E Deficiency / complications*
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alpha-Fetoproteins / analysis*
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gamma-Globulins / analysis*
Substances
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Immunoglobulin G
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alpha-Fetoproteins
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gamma-Globulins
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DNA
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Creatine Kinase