Suppr超能文献

纯运动不能:哈勒沃登-施帕茨综合征的一种不寻常表型。

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.

作者信息

Molinuevo José L, Martí María J, Blesa Rafael, Tolosa Eduardo

机构信息

Servei de Neurologia, ICMSN, Hospital Clínic i Universitari, Barcelona, Spain.

出版信息

Mov Disord. 2003 Nov;18(11):1351-3. doi: 10.1002/mds.10520.

Abstract

Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A-->G and 1172T-->C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.

摘要

我们的门诊运动障碍诊所接待了两名患有单纯运动不能综合征惰性临床表现的兄弟姐妹。磁共振成像显示典型的“虎眼征”,基因筛查发现这两名兄弟姐妹都是PANK2基因734A→G和1172T→C两个错义突变的复合杂合子。本病例报告强调了哈勒沃登-施帕茨综合征的表型多样性以及对成人起病的单纯运动不能综合征进行进一步研究的必要性。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验