Basal ganglia disease, adult-onset

*Gene map locus 19q13.3-q13.4

NBIA3

Neurodegeneration with brain iron accumulation 3

Neuroferritinopathy

[Clinical features: adult-onset progressive movement disorder (chorea or dystonia); cognitive defects; blepharospasm]

[Inheritance: autosomal dominant]


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


Neuroferritinopathy in a French family with late onset dominant dystonia	Palatal tremor and cognitive decline in neuroferritinopathy	Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
Journal of Medical Genetics	Journal of Neurology, Neurosurgery and Psychiatry	Nature Genetics

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Edited by Aldo Campana, August 21, 2012