Browse by author
Lookup NU author(s): Dr Douglas Crompton, Professor Patrick Chinnery, Constanze Fey, Andrew Curtis, Dr Christopher Morris, Professor Alastair BurtORCiD, Dr Ann Curtis, Emeritus Professor David Bates, Dr Margaret Jackson, Professor Sir John BurnORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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 sixth decades. Low serum ferritin also characterises this condition. Brain MR imaging of affected patients demonstrates iron deposition in the basal ganglia, progressing over years to cystic degeneration, and brain histochemistry shows abnormal aggregates of ferritin and iron. Now that the molecular basis of the condition is known, therapeutic interventions to reduce or reverse brain iron deposition are being evaluated. This rare disease provides evidence of a central role for iron metabolism in neurodegenerative disorders. (C) 2002 Elsevier Science (USA).
Author(s): Crompton DE, Chinnery PF, Fey C, Curtis ARJ, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J
Publication type: Conference Proceedings (inc. Abstract)
Publication status: Published
Conference Name: Meeting on Molecular and Clinical Aspects of Human Iron Metabolism
Year of Conference: 2002
Pages: 522-531
ISSN: 1079-9796
Publisher: Academic Press
URL: http://dx.doi.org/10.1006/bcmd.2002.0589
DOI: 10.1006/bcmd.2002.0589
Library holdings: Search Newcastle University Library for this item
Series Title: Blood Cells, Molecules and Diseases
ISBN: 10960961
