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

被引：9

作者：

Barbieri, F

Pellecchia, MT

Esposito, E

Di Stasio, E

Castaldo, I

Santorelli, F

Perretti, A

Santoro, L

De Michele, G

机构：

[1] Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

[2] Univ Naples Federico II, Dept Mol & Cellular Biol, I-80131 Naples, Italy

[3] S Maria Pieta Hosp, Nola, Italy

[4] Mol Med Unit, Rome, Italy

[5] Bambino Gesu Childrens Hosp, Rome, Italy

来源：

NEUROLOGY | 2001年 / 56卷 / 10期

关键词：

D O I：

10.1212/WNL.56.10.1412

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：1412 / 1414

页数：3

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