Adult‐onset generalized dystonia due to a mutation in the neuroferritinopathy gene | Zendy

Mir Pablo | Zendy; Edwards Mark J. | Zendy; Curtis Andrew R.J. | Zendy; Bhatia Kailash P. | Zendy; Quinn Niall P. | Zendy

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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

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