Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.
Two brothers presented with late-onset cerebellar ataxia and severe dysphonia. Brain MRI showed vermian and hemispheric cerebellar atrophy. Laringofiberscopy revealed laryngeal abductor paralysis in both patients. Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible.
Barbieri
F
F
Department of Neurological Sciences, Federico II University, Naples, Italy.
Pellecchia
M T
MT
Esposito
E
E
Di Stasio
E
E
Castaldo
I
I
Santorelli
F
F
Perretti
A
A
Santoro
L
L
De Michele
G
G
D000368:Aged; D001284:Atrophy / Q000150:complications / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007821:Laryngeal Muscles / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000150:complications / Q000235:genetics / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D014826:Vocal Cord Paralysis / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology; D014827:Vocal Cords / Q000473:pathology / Q000503:physiopathology; D014832:Voice Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology