Conference Proceedings
Neuroferritinopathy: A window on the role of iron in neurodegeneration
DE Crompton, PF Chinnery, C Fey, ARJ Curtis, CM Morris, J Kierstan, A Burt, F Young, A Coulthard, A Curtis, PG Ince, D Bates, MJ Jackson, J Burn
Blood Cells Molecules and Diseases | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2002
Abstract
Neuroferritinopathy is a recently recognised genetic disease resulting in a dominantly inherited movement disorder. The condition was mapped by linkage analysis to chromosome 19q13.3 and found to be due to a single adenine insertion in the ferritin light chain (FTL) gene at position 460-461 which is predicted to alter the C terminus of the FTL polypeptide. Clinical features of neuroferritinopathy are highly variable, with chorea, dystonia, and Parkinsonian features predominating in different affected individuals. The most consistent feature is a dystonic dysarthria. Symptoms and abnormal physical signs appear to be restricted to the nervous system and onset is typically in the fourth to sixt..
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