Neuroferritinopathy is an autosomal dominant disorder caused by mutations of the FTL gene. The neurodegeneration is characterized by iron accumulation in basal ganglia and parkinsonism and dystonia.
Disorders of iron metabolism | ||||
Aceruloplasminemia/Hypoceruloplasminemia | ||||
Hemochromatosis | ||||
Hyperferritinemia-cataract syndrome | ||||
L-ferritin deficiency | ||||
Neurodegeneration with brain iron accumulation 3 | ||||
FTL | ||||
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Orphanet article Orphanet ID 157846 |
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Wikipedia article Wikipedia EN (Neuroferritinopathy) |