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

Lookup NU author(s): Andrew Curtis

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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.

Publication metadata

Author(s): Mir P, Edwards MJ, Curtis ARJ, Bhatia KP, Quinn NP

Publication type: Article

Publication status: Published

Journal: Movement Disorders

Year: 2005

Volume: 20

Issue: 2

Pages: 243-245

Print publication date: 01/02/2005

ISSN (print): 0885-3185

ISSN (electronic): 1531-8257

Publisher: Wiley

URL: http://dx.doi.org/10.1002/mds.20280

DOI: 10.1002/mds.20280

PubMed id: 15390032

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