19q13.3-q13.4   GeneReviews   OMIM   PubMed

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, April 18, 2014