| H00970 | |
| H番号 | H00970 |
| 名称 | 若年性原発性側索硬化症 |
| 概要 | Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral sclerosis is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | ALS2 [HSA:57679] [KO:K04575] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8B60.4 ICD-10: G12.2 MeSH: C536416 OMIM: 606353 |
| 文献 | PMID:16670179 著者 Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT タイトル The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. 雑誌 Brain 129:1710-9 (2006) DOI:10.1093/brain/awl104 PMID:17566607 著者 Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE タイトル Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration. 雑誌 Neurochem Int 51:74-84 (2007) DOI:10.1016/j.neuint.2007.04.010 PMID:2812336 著者 Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M タイトル Primary lateral sclerosis in a child. 雑誌 Neurology 39:1530-2 (1989) DOI:10.1212/WNL.39.11.1530 PMID:8719747 著者 Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T タイトル Familial childhood primary lateral sclerosis with associated gaze paresis. 雑誌 Neuropediatrics 26:313-9 (1995) DOI:10.1055/s-2007-979781 |