title: Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.
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.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Barbieri
authors.forename: M T
authors.initials: MT
authors.lastname: Pellecchia
authors.forename: E
authors.initials: E
authors.lastname: Esposito
authors.forename: E
authors.initials: E
authors.lastname: Di Stasio
authors.forename: I
authors.initials: I
authors.lastname: Castaldo
authors.forename: F
authors.initials: F
authors.lastname: Santorelli
authors.forename: A
authors.initials: A
authors.lastname: Perretti
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: G
authors.initials: G
authors.lastname: De Michele
mesh_terms: 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