Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene
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DOI：
10.1002/mds.20280
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发表时间：
2005-02-01
影响因子：
8.6
通讯作者：
Quinn, NP
中科院分区：
文献类型：
--
作者：
Mir, P;Edwards, MJ;Quinn, NP
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics. (C) 2004 Movement Disorder Society.
