Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.

Barbieri, F; Pellecchia, M T; Esposito, E; Di Stasio, E; Castaldo, I; Santorelli, F; Perretti, A; Santoro, L et al. · Neurology · 2001

case_report · Level V

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Abstract

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.

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