Neuroferritinopathy

Genetics

• This is caused by mutations in the FTL1 (ferritin light chain) gene on chromosome 19q
• The gene encodes ferritin light polypeptide (FTL)
• The transmission is autosomal dominant: it is the only dominant NBIA
• The mean onset age is around 40 years

Dystonic features

Other movement disorders

Other neurological features

Absent features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Ferritin tests

Synonym

References

1. Chinnery PF, Crompton DE, Birchall D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTLI 460InsA mutation. Brain 2007; 130:110-119.
2. Devos D, Tchofo PJ, Vuillaume I, et al. Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain 2009; 232:1-3.
3. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42-53.
4. Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001; 28:350-354.
5. Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J. Neuroferritinopathy: a new inborn error of iron metabolism. Neurogenetics 2012; 13:93-96.
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Related checklists

• Neurodegeneration with brain iron accumulation (NBIA): classification
• Pantethonate kinase associated neurodegeneration (PKAN)
• Aceruloplasminaemia
• Woodhouse-Sakati syndrome
• Mitochondrial membrane protein-associated neurodegeneration (MPAN)
• Pallido-pyramidal syndromes (PPS)