Abstract:
OBJECTIVE:To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency. BACKGROUND:Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy. METHODS:Having found decreased CoQ10 levels in muscle from a patient with unclassified familial cerebellar ataxia, the authors measured CoQ10 in muscle biopsies from other patients in whom cerebellar ataxia could not be attributed to known genetic causes. RESULTS:The authors found muscle CoQ10 deficiency (26 to 35% of normal) in six patients with cerebellar ataxia, pyramidal signs, and seizures. All six patients responded to CoQ10 supplementation; strength increased, ataxia improved, and seizures became less frequent. CONCLUSIONS:Primary CoQ10 deficiency is a potentially important cause of familial ataxia and should be considered in the differential diagnosis of this condition because CoQ10 administration seems to improve the clinical picture.
journal_name
Neurologyjournal_title
Neurologyauthors
Musumeci O,Naini A,Slonim AE,Skavin N,Hadjigeorgiou GL,Krawiecki N,Weissman BM,Tsao CY,Mendell JR,Shanske S,De Vivo DC,Hirano M,DiMauro Sdoi
10.1212/wnl.56.7.849subject
Has Abstractpub_date
2001-04-10 00:00:00pages
849-55issue
7eissn
0028-3878issn
1526-632Xjournal_volume
56pub_type
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