Neuroferritinopathy in a French family with late onset dominant dystonia

• Published in: Journal of medical genetics Vol. 40; no. 5; p. e69
• Main Authors: Chinnery, P F, Curtis, A R J, Fey, C, Coulthard, A, Crompton, D, Curtis, A, Lombés, A, Burn, J
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.05.2003; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adult; Age of Onset; Ataxia; basal ganglia; Basal Ganglia Diseases - genetics; Basal Ganglia Diseases - pathology; Basal Ganglia Diseases - physiopathology; Corpus Striatum - pathology; dystonia; Dystonia - genetics; Dystonia - pathology; Dystonia - physiopathology; England; France; Genes; Genes, Dominant - genetics; Genomes; Haplotypes; Haplotypes - genetics; Humans; Iron - metabolism; Middle Aged; movement disorder; Mutation; neuroferritinopathy; Online Mutation Report; Patients; Polypeptides; England; France; United Kingdom > UK
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.40.5.e69

Key points We recently described a novel autosomal dominant basal ganglia disorder caused by an adenine insertion at position 460-461 of the gene for ferritin light polypeptide (FTL) in a large family from Cumbria in the north west of England. Table 1 Haplotypes of markers around the FTL mutation in affected subjects in the Cumbrian (UK) and French families Haplotypes Marker Linkage (cM)* Physical (Mb)[dagger] UK French D19S596 74.07 65.98 5 3 31598C - 66.03 5 6 REP9 - 66.04 3 6 REP8b - 66.16 5 4 REP8a - 66.16 4 2 FTL exon 4 mutation - 66.22 insA insA D19S879 75.41 66.31 3 3 HRC.PCR3 75.41 66.45 9 8 D19S604 75.41 66.69 2 4 D19S867 77.54 67.35 6 5 D19S866 77.54 67.59 9 2 *Marshfield genetic linkage map of chromosome 19: http://research.marshfieldclinic.org/genetics/ [dagger]UCSC Genome Browser (December 2001 freeze): http://genome.ucsc.edu/index.html DISCUSSION Here we describe the first non-British family with a mutation in the FTL gene causing neuroferritinopathy.