H01177 | |
H number | H01177 |
Name | Infantile bilateral striatal necrosis |
Description | Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in the adenosine triphosphatase 6 gene (complex V) have been described in families with mitochondrial inheritance, while there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease. |
Category | Nervous system disease |
Network | - |
Gene | NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | A report says oral biotin may have benefited. |
Other DBs | ICD-11: 8D87.01 ICD-10: G23.2 MeSH: C537500 OMIM: 271930 500003 |
Reference | PMID:16786527 AUTHORS Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M TITLE Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. JOURNAL Ann Neurol 60:214-22 (2006) DOI:10.1002/ana.20902 PMID:14718703 AUTHORS Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M TITLE Infantile bilateral striatal necrosis maps to chromosome 19q. JOURNAL Neurology 62:87-90 (2004) DOI:10.1212/01.WNL.0000101680.49036.69 PMID:12374138 AUTHORS Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J TITLE Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. JOURNAL Neurology 59:983-9 (2002) DOI:10.1212/WNL.59.7.983 PMID:16198210 AUTHORS Murakami A, Morimoto M, Adachi S, Ishimaru Y, Sugimoto T TITLE Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection. JOURNAL Brain Dev 27:527-30 (2005) DOI:10.1016/j.braindev.2004.12.004 PMID:7668837 AUTHORS Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S TITLE A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. JOURNAL Ann Neurol 38:468-72 (1995) DOI:10.1002/ana.410380321 |