Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease: lessons from genetic studies.

Details

Serval ID
serval:BIB_E9116F0B8ED1
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease: lessons from genetic studies.
Journal
Neuro-degenerative Diseases
Author(s)
Wider C., Wszolek Z.K.
ISSN
1660-2862[electronic], 1660-2854[linking]
Publication state
Published
Issued date
2008
Volume
5
Number
3-4
Pages
122-125
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
Abstract
Genetic studies have led to major discoveries in the pathogenesis of various neurodegenerative diseases. Ubiquitin-positive familial frontotemporal dementia was recently found to be caused by mutations in the progranulin gene (PGRN), and the major constituent of the inclusions, TDP-43, was subsequently identified. The tau gene (MAPT) causes frontotemporal dementia with parkinsonism linked to chromosome 17. In Parkinson disease, LRRK2 mutations have emerged as a major cause of both familial and sporadic forms, adding to the previously known genes SNCA,PRKN,DJ1 and PINK1. Several genes have been implicated in Alzheimer disease, including the APP gene and the PSEN genes. Recently, variants in the sortilin-related receptor 1 gene, SORL1, were associated with Alzheimer disease.
Keywords
Alzheimer Disease/etiology, Alzheimer Disease/genetics, Animals, Dementia/etiology, Dementia/genetics, Humans, Parkinson Disease/etiology, Parkinson Disease/genetics, Phenotype
Pubmed
Open Access
Yes
Create date
24/09/2010 18:11
Last modification date
20/08/2019 16:11
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