Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.
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DOI：
10.1016/j.nmd.2014.06.441
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发表时间：
2014-11
影响因子：
2.8
通讯作者：
Fischbeck, Kenneth H.
中科院分区：
文献类型：
--
作者：
Grunseich, Christopher;Kats, Ilona R.;Bott, Laura C.;Rinaldi, Carlo;Kokkinis, Angela;Fox, Derrick;Chen, Ke-lian;Schindler, Alice B.;Mankodi, Ami K.;Shrader, Joseph A.;Schwartz, Daniel P.;Lehky, Tanya J.;Liu, Chia-Ying;Fischbeck, Kenneth H.
脊髓延髓肌萎缩症（SBMA）是一种X连锁的神经肌肉疾病，由雄激素受体基因中的三核苷酸（CAG）重复扩增引起。SBMA患者的延髓和四肢肌肉无力、萎缩和肌束震颤。CAG重复长度大于62的个体以前没有报道过。我们评估了一名29岁的SBMA患者，患有68例CAG，其发病异常早，并且在其他疾病患者中未见发现。雄激素受体基因的分析证实了68 CAG的重复长度在外周血和成纤维细胞。肌肉和感觉功能的评估显示SBMA的典型缺陷，此外，患者有自主神经功能障碍和性发育异常的表现。这些发现扩展了与SBMA相关的已知表型，并对突变的雄激素受体的影响提出了新的见解。
Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29 year old SBMA patient with 68 CAGs who had unusually early onset and findings not seen in others with the disease. Analysis of the androgen receptor gene confirmed the repeat length of 68 CAGs in both peripheral blood and fibroblasts. Evaluation of muscle and sensory function showed deficits typical of SBMA, and in addition the patient had manifestations of autonomic dysfunction and abnormal sexual development. These findings extend the known phenotype associated with SBMA and shed new insight into the effects of the mutated androgen receptor.
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影响因子：
14.5
作者：
Atsuta, Naoki;Watanabe, Hirohisa;Sobue, Gen
通讯作者：
Sobue, Gen
影响因子：
3.4
作者：
Manganelli, Fiore;Iodice, Valeria;Santoro, Lucio
通讯作者：
Santoro, Lucio
DOI：
10.1093/brain/awp258
发表时间：
2009-12
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Rhodes LE;Freeman BK;Auh S;Kokkinis AD;La Pean A;Chen C;Lehky TJ;Shrader JA;Levy EW;Harris-Love M;Di Prospero NA;Fischbeck KH
通讯作者：
Fischbeck KH
影响因子：
3.5
作者：
Lieberman, AP;Harmison, G;Fischbeck, KH
通讯作者：
Fischbeck, KH
影响因子：
3.5
作者：
Ranganathan, Srikanth;Harmison, George G.;Fischbeck, Kenneth H.
通讯作者：
Fischbeck, Kenneth H.