| H01212 | |
| H number | H01212 |
| Name | Familial encephalopathy with neuroserpin inclusion bodies |
| Description | Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive diastase-resistant inclusions. Kindreds with FENIB present with presenile dementia and cognitive deficits. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | SERPINI1 [HSA:5274] [KO:K23412] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61.41 MeSH: C536841 OMIM: 604218 |
| Reference | PMID:10517635 AUTHORS Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA TITLE Familial dementia caused by polymerization of mutant neuroserpin. JOURNAL Nature 401:376-9 (1999) DOI:10.1038/43894 PMID:11880376 AUTHORS Belorgey D, Crowther DC, Mahadeva R, Lomas DA TITLE Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. JOURNAL J Biol Chem 277:17367-73 (2002) DOI:10.1074/jbc.M200680200 PMID:19164889 AUTHORS Belorgey D, Hagglof P, Karlsson-Li S, Lomas DA TITLE Protein misfolding and the serpinopathies. JOURNAL Prion 1:15-20 (2007) DOI:10.4161/pri.1.1.3974 |