KEGG DISEASE: レビー小体型認知症

KEGG

DISEASE: レビー小体型認知症

エントリ

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
08 神経系の疾患
  主な特徴として神経認知障害を伴う疾患
   8A22  レビー小体病
    H00066  レビー小体型認知症

病因遺伝子

SNCA (mutation, triplication) [HSA:6622] [KO:K04528]
SNCB (mutation) [HSA:6620] [KO:K24201]
LRRK2 (mutation) [HSA:120892] [KO:K08844]
GBA (mutation) [HSA:2629] [KO:K01201]

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:

ICD-10:

MeSH:

OMIM:

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

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