Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.

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

Neurology

journal_title

Neurology

authors

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 S

doi

10.1212/wnl.56.7.849

subject

Has Abstract

pub_date

2001-04-10 00:00:00

pages

849-55

issue

7

eissn

0028-3878

issn

1526-632X

journal_volume

56

pub_type

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