Pure akinesia:: An unusual phenotype of Hallervorden-Spatz syndrome

被引：23

作者：

Molinuevo, JL ^{[1
]}

Martí, MJ ^{[1
]}

Blesa, R ^{[1
]}

Tolosa, E ^{[1
]}

机构：

[1] Hosp Clin & Univ, Serv Neurol, Inst Clin Malalties Sistema Nervos, E-08036 Barcelona, Spain

来源：

MOVEMENT DISORDERS | 2003年 / 18卷 / 11期

关键词：

Hallervorden Spatz; progressive supranuclear palsy; pure akinesia; PANK2; gene; parkinsonism; magnetic resonance imaging;

D O I：

10.1002/mds.10520

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2003 Movement Disorder Society.

引用

页码：1351 / 1353

页数：3

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