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Lookup NU author(s): Andrew Curtis
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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.
Author(s): Mir P, Edwards MJ, Curtis ARJ, Bhatia KP, Quinn NP
Publication type: Article
Publication status: Published
Journal: Movement Disorders
Print publication date: 01/02/2005
ISSN (print): 0885-3185
ISSN (electronic): 1531-8257
PubMed id: 15390032
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