| H00970 | |
| H number | H00970 |
| Name | Juvenile primary lateral sclerosis |
| Description | 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. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | ALS2 [HSA:57679] [KO:K04575] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8B60.4 ICD-10: G12.2 MeSH: C536416 OMIM: 606353 |
| Reference | PMID:16670179 AUTHORS Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT TITLE The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. JOURNAL Brain 129:1710-9 (2006) DOI:10.1093/brain/awl104 PMID:17566607 AUTHORS Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE TITLE Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration. JOURNAL Neurochem Int 51:74-84 (2007) DOI:10.1016/j.neuint.2007.04.010 PMID:2812336 AUTHORS Grunnet ML, Leicher C, Zimmerman A, Zalneraitis E, Barwick M TITLE Primary lateral sclerosis in a child. JOURNAL Neurology 39:1530-2 (1989) DOI:10.1212/WNL.39.11.1530 PMID:8719747 AUTHORS Gascon GG, Chavis P, Yaghmour A, Stigsby B, Shums A, Ozand P, Siddique T TITLE Familial childhood primary lateral sclerosis with associated gaze paresis. JOURNAL Neuropediatrics 26:313-9 (1995) DOI:10.1055/s-2007-979781 |