| H00066 | |
| H number | H00066 |
| Name | Lewy body dementia (LBD); Dementia with Lewy bodies (DLB) |
| Description | Lewy Body dementia (LDB) is neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. It is the second most-common degenerative dementia after Alzheimer's disease. Progressive accumulation of alpha-synuclein- and ubiquitin-positive Lewy Bodies is seen in the brainstem, the limbic system or cortical and subcortical regions, depending on disease subtype. The genetic risk factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | SNCA; synuclein, alpha (mutation, triplications) [HSA:6622] [KO:K04528] SNCB; synuclein, beta (mutation) [HSA:6620] [KO:K24201] LRRK2; leucine-rich repeat kinase 2 (mutation) [HSA:120892] [KO:K08844] GBA; glucosidase, beta; acid (mutation) [HSA:2629] [KO:K01201] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disease class: synucleinopathy Affected region: basal ganglia Microscopic lesion: Lewy bodies |
| Other DBs | ICD-11: 8A22 ICD-10: G31.8 MeSH: D020961 OMIM: 127750 |
| Reference | PMID:18541113 AUTHORS Bonifati V TITLE Recent advances in the genetics of dementia with lewy bodies. JOURNAL Curr Neurol Neurosci Rep 8:187-9 (2008) DOI:10.1007/s11910-008-0030-1 PMID:18413475 AUTHORS Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF, Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M, Takahashi H, Ishikawa A TITLE Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. JOURNAL Arch Neurol 65:514-9 (2008) DOI:10.1001/archneur.65.4.514 PMID:18332251 AUTHORS Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP TITLE Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. JOURNAL Arch Neurol 65:379-82 (2008) DOI:10.1001/archneurol.2007.68 PMID:18195271 AUTHORS Obi T, Nishioka K, Ross OA, Terada T, Yamazaki K, Sugiura A, Takanashi M, Mizoguchi K, Mori H, Mizuno Y, Hattori N TITLE Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. JOURNAL Neurology 70:238-41 (2008) DOI:10.1212/01.wnl.0000299387.59159.db PMID:16437559 AUTHORS Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW TITLE Lrrk2 and Lewy body disease. JOURNAL Ann Neurol 59:388-93 (2006) DOI:10.1002/ana.20731 PMID:16131416 AUTHORS Burn DJ TITLE Update on dementia with Lewy bodies. JOURNAL Curr Neurol Neurosci Rep 5:339-44 (2005) DOI:10.1007/s11910-005-0057-5 PMID:15655259 AUTHORS Hashimoto M, Kawahara K, Bar-On P, Rockenstein E, Crews L, Masliah E TITLE The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease. JOURNAL J Mol Neurosci 24:343-52 (2004) DOI:10.1385/JMN:24:3:343 PMID:15312277 AUTHORS Aarsland D, Ballard CG, Halliday G TITLE Are Parkinson's disease with dementia and dementia with Lewy bodies the same entity? JOURNAL J Geriatr Psychiatry Neurol 17:137-45 (2004) DOI:10.1177/0891988704267470 PMID:12898286 AUTHORS Graeber MB, Muller U TITLE Dementia with Lewy bodies: disease concept and genetics. JOURNAL Neurogenetics 4:157-62 (2003) DOI:10.1007/s10048-003-0155-y PMID:11890854 AUTHORS Brett FM, Henson C, Staunton H TITLE Familial diffuse Lewy body disease, eye movement abnormalities, and distribution of pathology. JOURNAL Arch Neurol 59:464-7 (2002) DOI:10.1001/archneur.59.3.464 PMID:11470957 AUTHORS Dickson DW TITLE Alpha-synuclein and the Lewy body disorders. JOURNAL Curr Opin Neurol 14:423-32 (2001) DOI:10.1097/00019052-200108000-00001 |