KEGG   DISEASE: H00066Help
Entry
H00066                      Disease                                

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 triplicationslocus triplications. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB.
Category
Neurodegenerative disease
BRITE hierarchy
Gene
SNCA; synuclein, alpha (mutation, triplications) [HSA:6622] [KO:K04528]
SNCB; synuclein, beta (mutation) [HSA:6620]
LRRK2; leucine-rich repeat kinase 2 (mutation) [HSA:120892] [KO:K08844]
GBA; glucosidase, beta; acid (mutation) [HSA:2629] [KO:K01201]
Comment
Disease class: synucleinopathy
Affected region: basal ganglia
Microscopic lesion: Lewy bodies
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Bonifati V
  Title
Recent advances in the genetics of dementia with lewy bodies.
  Journal
Curr Neurol Neurosci Rep 8:187-9 (2008)
Reference
  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)
Reference
  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)
Reference
  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)
Reference
  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)
Reference
  Authors
Burn DJ
  Title
Update on dementia with Lewy bodies.
  Journal
Curr Neurol Neurosci Rep 5:339-44 (2005)
Reference
  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)
Reference
  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)
Reference
  Authors
Graeber MB, Muller U
  Title
Dementia with Lewy bodies: disease concept and genetics.
  Journal
Neurogenetics 4:157-62 (2003)
Reference
  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)
Reference
  Authors
Dickson DW
  Title
Alpha-synuclein and the Lewy body disorders.
  Journal
Curr Opin Neurol 14:423-32 (2001)

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