Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
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.
Department of Neurology, Laboratory of Biology, University of Milan, Italy.
M
M
Gironi
C
C
Lamperti
R
R
Nemni
M
M
Moggio
G
G
Comi
F R
FR
Guerini
P
P
Ferrante
N
N
Canal
A
A
Naini
N
N
Bresolin
S
S
DiMauro
D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000150:complications / Q000209:etiology*; D003067:Coenzymes; D003937:Diagnosis, Differential; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis*; D018482:Muscle, Skeletal / Q000201:enzymology*; D035781:Siblings; D014451:Ubiquinone / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000172:deficiency*
D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10