Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
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.
Musumeci
O
O
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Naini
A
A
Slonim
A E
AE
Skavin
N
N
Hadjigeorgiou
G L
GL
Krawiecki
N
N
Weissman
B M
BM
Tsao
C Y
CY
Mendell
J R
JR
Shanske
S
S
De Vivo
D C
DC
Hirano
M
M
DiMauro
S
S
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D014450:Electron Transport Complex III / Q000172:deficiency; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D012640:Seizures / Q000503:physiopathology; D014451:Ubiquinone / Q000172:deficiency*
D014451:Ubiquinone; D014450:Electron Transport Complex III