Spectrum of movement disorders in neuroferritinopathy
- 18 August 2004
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 20 (1), 95-99
- https://doi.org/10.1002/mds.20284
Abstract
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 SocietyKeywords
Funding Information
- Wellcome Trust
- Newcastle upon Tyne Hospitals Special Trustees
This publication has 10 references indexed in Scilit:
- Neuroferritinopathy in a French family with late onset dominant dystoniaJournal of Medical Genetics, 2003
- Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz SyndromeNew England Journal of Medicine, 2003
- State of the art review: Molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosisMovement Disorders, 2002
- Palatal tremor and cognitive decline in neuroferritinopathyJournal of Neurology, Neurosurgery & Psychiatry, 2002
- A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndromeNature Genetics, 2001
- Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia diseaseNature Genetics, 2001
- Levodopa-responsive dystoniaBrain, 2000
- Association between Early-Onset Parkinson's Disease and Mutations in theParkinGeneNew England Journal of Medicine, 2000
- The DYT1 phenotype and guidelines for diagnostic testingNeurology, 2000
- Chorea‐acanthocytosis: A report of three new families and implications for genetic counsellingAmerican Journal of Medical Genetics, 1987