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Adult‐onset generalized dystonia due to a mutation in the neuroferritinopathy gene
Author(s) -
Mir Pablo,
Edwards Mark J.,
Curtis Andrew R.J.,
Bhatia Kailash P.,
Quinn Niall P.
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20280
Subject(s) - dystonia , mutation , physical medicine and rehabilitation , age of onset , medicine , genetics , gene , pediatrics , neuroscience , psychology , biology , disease
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. © 2004 Movement Disorder Society