| H01779 | |
| H number | H01779 |
| Name | Neuroferritinopathy |
| 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 |
| Network | nt06525(H01779) Ferroptosis |
| Gene | FTL [HSA:2512] [KO:K13625] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | 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). |
| Other DBs | ICD-11: 8A01.1Y ICD-10: G23.8 MeSH: C548080 OMIM: 606159 |
| Reference | PMID:27022507 AUTHORS Kumar N, Rizek P, Jog M TITLE Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management. JOURNAL Tremor Other Hyperkinet Mov (N Y) 6:355 (2016) DOI:10.7916/D8KK9BHF PMID:24825732 (FTL) AUTHORS Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M TITLE A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. JOURNAL J Neurol Sci 342:173-7 (2014) DOI:10.1016/j.jns.2014.03.060 |