Neurodegeneration with brain iron accumulation [DS:H00833]
Description
Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.
Category
Neurodegenerative disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A01 Choreiform disorders
H01779 Neuroferritinopathy
Neuroferritinopathy belongs to the group of disorders collectively known as neurodegeneration with brain iron accumulation (NBIA).
See also H00833 Neurodegeneration with brain iron accumulation (NBIA).
