Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation
Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation
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DOI：
10.1212/wnl.58.6.962
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发表时间：
2002-03-26
期刊：
影响因子：
9.9
通讯作者：
Lacombe, D
中科院分区：
文献类型：
--
作者：
Goizet, C;Catargi, B;Lacombe, D
aaa （3A）综合征是一种罕见的常染色体隐性遗传病，其特征是促肾上腺皮质激素抵抗性肾上腺功能不全，发生在心脏、肺泡和可变的自主神经系统。我们将首例成人3A综合征球脊髓肌萎缩症的神经表型作为与AAAS基因纯合无义突变相关的突出标志。
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.