TY - JOUR
T1 - Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease
T2 - Lessons from genetic studies
AU - Wider, Christian
AU - Wszolek, Zbigniew K.
PY - 2008/3
Y1 - 2008/3
N2 - 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.
AB - 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.
KW - Alzheimer disease
KW - Dementia
KW - Frontotemporal dementia
KW - Frontotemporal lobar degeneration
KW - Neurodegeneration
KW - Parkinson disease
UR - http://www.scopus.com/inward/record.url?scp=40449131930&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=40449131930&partnerID=8YFLogxK
U2 - 10.1159/000113680
DO - 10.1159/000113680
M3 - Article
C2 - 18322368
AN - SCOPUS:40449131930
SN - 1660-2854
VL - 5
SP - 122
EP - 125
JO - Neurodegenerative Diseases
JF - Neurodegenerative Diseases
IS - 3-4
ER -