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

Christian Wider, Zbigniew K. Wszolek

Research output: Contribution to journalArticle

23 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)122-125
Number of pages4
JournalNeurodegenerative Diseases
Volume5
Issue number3-4
DOIs
StatePublished - Mar 2008

Keywords

  • Alzheimer disease
  • Dementia
  • Frontotemporal dementia
  • Frontotemporal lobar degeneration
  • Neurodegeneration
  • Parkinson disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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