Spectrum of movement disorders in neuroferritinopathy

被引：30

作者：

Crompton, DE

Chinnery, PF

Bates, D

Walls, TJ

Jackson, MJ

Curtis, AJ

Burn, J

机构：

[1] Univ Newcastle Upon Tyne, Med Sch Newcastle Upon Tyne, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Reg Neurosci Ctr, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[3] Univ Newcastle Upon Tyne, Inst Human Genet, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[4] Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 01期

关键词：

neuroferritinopathy; ferritin light chain; ferritin; chorea; dystonia; movement disorder;

D O I：

10.1002/mds.20284

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals. (C) 2004 Movement Disorder Society

引用

页码：95 / 99

页数：5

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