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.
Gironi
M
M
Department of Neurology, Laboratory of Biology, University of Milan, Italy.
Lamperti
C
C
Nemni
R
R
Moggio
M
M
Comi
G
G
Guerini
F R
FR
Ferrante
P
P
Canal
N
N
Naini
A
A
Bresolin
N
N
DiMauro
S
S
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