Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

被引：46

作者：

Goizet, C ^{[1
]}

Catargi, B

Tison, F

Tullio-Pelet, A

Hadj-Rabia, S

Pujol, F

Lagueny, A

Lyonnet, S

Lacombe, D

机构：

[1] Hop Pellegrin Enfants, Serv Genet Med, F-33076 Bordeaux, France

[2] INSERM U393, Unite Rech Handicaps Genet Enfant, Paris, France

[3] Hop Haut Leveque, Serv Neurol, Pessac, France

[4] Hop Haut Leveque, Serv Endocrinol, Pessac, France

来源：

NEUROLOGY | 2002年 / 58卷 / 06期

关键词：

D O I：

10.1212/WNL.58.6.962

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Triple A (3A) syndrome, a rare autosomal recessive disorder, is characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, of the cardia, alacrima, and variable autonomic and neurologic The gene responsible, AAAS, recently has been identified. We the neurologic phenotype of the first adult case of 3A syndrome bulbospinal amyotrophy as the prominent sign in association with homozygous nonsense mutation identified in the AAAS gene.

引用

页码：962 / 965

页数：4

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