Autosomal recessive, DYT2-like primary torsion dystonia - A new family
Autosomal recessive, DYT2-like primary torsion dystonia - A new family
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DOI：
10.1212/01.wnl.0000099076.17187.9a
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发表时间：
2003-12-23
期刊：
影响因子：
9.9
通讯作者：
Bhatia, KP
中科院分区：
文献类型：
--
作者：
Khan, NL;Wood, NW;Bhatia, KP
作者报道了一个患有常染色体隐性遗传DYT2样原发性扭转肌张力障碍的Sephardic犹太家系的临床特征。三个兄弟姐妹在儿童时期就出现肢体肌张力障碍，并缓慢进展为全身性肌张力障碍，主要累及颅颈。在12年的随访中，除了肌张力障碍和抽搐性震颤外，没有其他异常体征。所有原发性和继发性肌张力障碍的其他原因的检查结果均正常。
The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.