Journal
NEUROLOGY
Volume 62, Issue 5, Pages 818-820Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000113719.67643.B7
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Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.
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