RGD Reference Report - Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. - Rat Genome Database

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Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

Authors: Chinnery, PF  Crompton, DE  Birchall, D  Jackson, MJ  Coulthard, A  Lombes, A  Quinn, N  Wills, A  Fletcher, N  Mottershead, JP  Cooper, P  Kellett, M  Bates, D  Burn, J 
Citation: Chinnery PF, etal., Brain. 2007 Jan;130(Pt 1):110-9. Epub 2006 Dec 2.
RGD ID: 5509859
Pubmed: PMID:17142829   (View Abstract at PubMed)
DOI: DOI:10.1093/brain/awl319   (Journal Full-text)

Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but the phenotype and natural history have not been defined. We studied a genetically homogeneous group of 41 subjects with the 460InsA mutation in FTL1, documenting the presentation, clinical course, biochemistry and neuroimaging. The mean age of onset was 39.4 years (SD = 13.3, range 13-63), beginning with chorea in 50%, focal lower limb dystonia in 42.5% and parkinsonism in 7.5%. The majority reported a family history of a movement disorder often misdiagnosed as Huntington's disease. The disease progressed relentlessly, becoming generalized over a 5-10 year period, eventually leading to aphonia, dysphagia and severe motor disability with subcortical/frontal cognitive dysfunction as a late feature. A characteristic action-specific facial dystonia was common (65%), and in 63% there was asymmetry throughout the disease course. Serum ferritin levels were low in the majority of males and post-menopausal females, but within normal limits for pre-menopausal females. MR brain imaging was abnormal on all affected individuals and one presymptomatic carrier. In conclusion, isolated parkinsonism is unusual in neuroferritinopathy, and unlike Huntington's disease, cognitive changes are absent or subtle in the early stages. Depressed serum ferritin is common and provides a useful screening test in routine practice, and gradient echo brain MRI will identify all symptomatic cases.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
neurodegeneration with brain iron accumulation 3  IAGP 5509859DNA:insertion:exon:460_461insA(human)RGD 
neurodegeneration with brain iron accumulation 3  ISOFTL (Homo sapiens)5509859; 5509859DNA:insertion:exon:460_461insA(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ftl1  (ferritin light chain 1)

Genes (Mus musculus)
Ftl1  (ferritin light polypeptide 1)

Genes (Homo sapiens)
FTL  (ferritin light chain)


Additional Information