DYT16: the original cases

被引：18

作者：

Camargos, Sarah ^{[1
]}

Lees, Andrew J. ^{[2
]}

Singleton, Andrew ^{[3
]}

Cardoso, Francisco ^{[1
]}

机构：

[1] Univ Fed Minas Gerais, Movement Disorders Clin, Hosp Clin, Dept Clin Med,Fac Med, Belo Horizonte, MG, Brazil

[2] UCL, Reta Lila Weston Inst Neurol Studies, London, England

[3] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2012年 / 83卷 / 10期

关键词：

DEPENDENT PROTEIN-KINASE; DYSTONIA; DISEASE; APOPTOSIS; MUTATION; PRKRA; PKR;

D O I：

10.1136/jnnp-2012-302841

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective DYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study was to describe clinical features providing video documentation of patients with DYT16 dystonia. Methods We examined and videotaped all homozygous carriers of the DYT16 gene. Results We identified two phenotypes, generalised dystonia and dystonia-parkinsonism non-responsive to levo-dopa, with three patients belonging to each of the groups. There was inter-individual and intra-family phenotypic heterogeneity. Conclusions DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.

引用

页码：1012 / 1014

页数：3

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