| H01779 | |
| H番号 | H01779 |
| 名称 | 神経フェリチン症 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | nt06525(H01779) Ferroptosis |
| 病因遺伝子 | FTL [HSA:2512] [KO:K13625] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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). |
| リンク | ICD-11: 8A01.1Y ICD-10: G23.8 MeSH: C548080 OMIM: 606159 |
| 文献 | PMID:27022507 著者 Kumar N, Rizek P, Jog M タイトル Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management. 雑誌 Tremor Other Hyperkinet Mov (N Y) 6:355 (2016) DOI:10.7916/D8KK9BHF PMID:24825732 (FTL) 著者 Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M タイトル A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. 雑誌 J Neurol Sci 342:173-7 (2014) DOI:10.1016/j.jns.2014.03.060 |