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Neurology 2001;56:1412-1414
© 2001 American Academy of Neurology
Brief Communications

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

F. Barbieri, MD;, M.T. Pellecchia, MD;, E. Esposito, MD;, E. Di Stasio, MD;, I. Castaldo, MSc;, F. Santorelli, MD;, A. Perretti, MD;, L. Santoro, MD; and G. De Michele, MD

From the Departments of Neurological Sciences (Drs. Barbieri, Pellecchia, Di Stasio, Perretti, Santoro, and De Michele) and Molecular and Cellular Biology (I. Castaldo), "Federico II" University, Naples; "S. Maria della Pietà" Hospital (Dr. Esposito), Nola; and Molecular Medicine Unit (Dr. Santorelli), "Bambino Gesù" Children’s Hospital, Rome, Italy.

Address correspondence and reprint requests to Dr. G. De Michele, Dipartimento di Scienze Neurologiche-Università "Federico II," Via Pansini 5, 80131 Napoli, Italy; e-mail: demichel{at}unina.it

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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