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.

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency / M. Gironi, C. Lamperti, R. Nemni, M. Moggio, G. Comi, F. R. Guerini, P. Ferrante, N. Canal, A. Naini, N. Bresolin, S. DiMauro. - In: NEUROLOGY. - ISSN 0028-3878. - 62:5(2004 Mar 09), pp. 818-820.

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

R. Nemni;G. Comi;P. Ferrante;N. Bresolin
Penultimo
;
2004

Abstract

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.
Diagnosis, Differential ; Age of Onset ; Humans; Muscle, Skeletal ; Cerebellar Ataxia ; Mitochondrial Encephalomyopathies ; Hypogonadism ; Adult ; Ubiquinone ; Coenzymes ; Middle Aged ; Siblings ; Male
Settore MED/26 - Neurologia
Settore MED/13 - Endocrinologia
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
9-mar-2004
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/176569
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