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Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

✍ Scribed by Pablo Mir; Mark J. Edwards; Andrew R.J. Curtis; Kailash P. Bhatia; Niall P. Quinn

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 105 KB
Volume: 20
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20280

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

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

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