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Lookup NU author(s): Dr Douglas Crompton, Professor Patrick Chinnery, Emeritus Professor David Bates, Dr Timothy Walls, Dr Margaret Jackson, Professor Sir John BurnORCiD
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Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals. © 2004 Movement Disorder Society.
Author(s): Crompton DE, Chinnery PF, Bates D, Walls TJ, Jackson MJ, Curtis AJ, Burn J
Publication type: Article
Publication status: Published
Journal: Movement Disorders
Year: 2005
Volume: 20
Issue: 1
Pages: 95-99
Print publication date: 01/01/2005
ISSN (print): 0885-3185
ISSN (electronic): 1531-8257
Publisher: Wiley-Blackwell
URL: http://dx.doi.org/10.1002/mds.20284
DOI: 10.1002/mds.20284
PubMed id: 15390132
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