| H00066 | |
| H番号 | H00066 |
| 名称 | レビー小体型認知症 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ゾニサミド [DR:D00538] ドネペジル塩酸塩 [DR:D00670] |
| コメント | Disease class: synucleinopathy Affected region: basal ganglia Microscopic lesion: Lewy bodies |
| リンク | ICD-11: 8A22 ICD-10: G31.8 MeSH: D020961 OMIM: 127750 |
| 文献 | PMID:18541113 著者 Bonifati V タイトル Recent advances in the genetics of dementia with lewy bodies. 雑誌 Curr Neurol Neurosci Rep 8:187-9 (2008) DOI:10.1007/s11910-008-0030-1 PMID:18413475 著者 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 タイトル Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. 雑誌 Arch Neurol 65:514-9 (2008) DOI:10.1001/archneur.65.4.514 PMID:18332251 著者 Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP タイトル Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 雑誌 Arch Neurol 65:379-82 (2008) DOI:10.1001/archneurol.2007.68 PMID:18195271 著者 Obi T, Nishioka K, Ross OA, Terada T, Yamazaki K, Sugiura A, Takanashi M, Mizoguchi K, Mori H, Mizuno Y, Hattori N タイトル Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. 雑誌 Neurology 70:238-41 (2008) DOI:10.1212/01.wnl.0000299387.59159.db PMID:16437559 著者 Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW タイトル Lrrk2 and Lewy body disease. 雑誌 Ann Neurol 59:388-93 (2006) DOI:10.1002/ana.20731 PMID:16131416 著者 Burn DJ タイトル Update on dementia with Lewy bodies. 雑誌 Curr Neurol Neurosci Rep 5:339-44 (2005) DOI:10.1007/s11910-005-0057-5 PMID:15655259 著者 Hashimoto M, Kawahara K, Bar-On P, Rockenstein E, Crews L, Masliah E タイトル The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease. 雑誌 J Mol Neurosci 24:343-52 (2004) DOI:10.1385/JMN:24:3:343 PMID:15312277 著者 Aarsland D, Ballard CG, Halliday G タイトル Are Parkinson's disease with dementia and dementia with Lewy bodies the same entity? 雑誌 J Geriatr Psychiatry Neurol 17:137-45 (2004) DOI:10.1177/0891988704267470 PMID:12898286 著者 Graeber MB, Muller U タイトル Dementia with Lewy bodies: disease concept and genetics. 雑誌 Neurogenetics 4:157-62 (2003) DOI:10.1007/s10048-003-0155-y PMID:11890854 著者 Brett FM, Henson C, Staunton H タイトル Familial diffuse Lewy body disease, eye movement abnormalities, and distribution of pathology. 雑誌 Arch Neurol 59:464-7 (2002) DOI:10.1001/archneur.59.3.464 PMID:11470957 著者 Dickson DW タイトル Alpha-synuclein and the Lewy body disorders. 雑誌 Curr Opin Neurol 14:423-32 (2001) DOI:10.1097/00019052-200108000-00001 |