Login to MyKarger

New to MyKarger? Click here to sign up.

Login with Facebook

Forgot Password? Reset your password

Authors, Editors, Reviewers

For Manuscript Submission, Check or Review Login please go to Submission Websites List.

Submission Websites List

Institutional Login (Shibboleth)

For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.

Table of Contents
Vol. 5, No. 3-4, 2008
Issue release date: March 2008
Section title: AD/PD – General Considerations
Free Access
Neurodegenerative Dis 2008;5:122–125

Etiology and Pathophysiology of Frontotemporal Dementia, Parkinson Disease and Alzheimer Disease: Lessons from Genetic Studies

Wider C. · Wszolek Z.K.
Department of Neurology, Mayo Clinic, Jacksonville, Fla., USA
email Corresponding Author

Zbigniew K. Wszolek, MD

Department of Neurology, Mayo Clinic

4500 San Pablo Road

Jacksonville, FL 32224 (USA)

Tel. +1 904 953 2000, Fax +1 909 953 0757, E-Mail wszolek.zbigniew@mayo.edu


  1. Rosso SM, Donker KL, Baks T, et al: Frontotemporal dementia in the Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 2003;126:2016–2022.
  2. Hutton M, Lendon CL, Rizzu P, et al: Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702–705.
  3. Baker M, Mackenzie IR, Pickering-Brown SM, et al: Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442:916–919.
  4. Neumann M, Sampathu DM, Kwong LK, et al: Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130–133.
  5. Goedert M, Spillantini MG: A century of Alzheimer’s disease. Science 2006;314:777–781.
  6. Levy-Lahad E, Wasco W, Poorkaj P, et al: Candidate gene for the chromosome 1 familial Alzheimer’s disease locus. Science 1995;269:973–977.
  7. Goate A, Chartier-Harlin MC, Mullan M, et al: Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease. Nature 1991;349:704–706.
  8. Rovelet-Lecrux A, Hannequin D, Raux G, et al: APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006;38:24–26.
  9. Farrer LA, Cupples LA, Haines JL, et al: Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997;278:1349–1356.
  10. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE: Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet 2007;39:17–23.
  11. Rogaeva E, Meng Y, Lee JH, et al: The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007;39:168–177.
  12. Farrer MJ: Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 2006;7:306–318.
  13. Ibanez P, Bonnet AM, Debarges B, et al: Causal relation between alpha-synuclein gene duplication and familial Parkinson’s disease. Lancet 2004;364:1169–1171.
  14. West AB, Moore DJ, Biskup S, et al: Parkinson’s disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci USA 2005;102:16842–16847.
  15. Abou-Sleiman PM, Muqit MM, Wood NW: Expanding insights of mitochondrial dysfunction in Parkinson’s disease. Nat Rev Neurosci 2006;7:207–219.
  16. Di FA, Tassorelli C, De MM, et al: Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson’s disease. Eur J Hum Genet 2006;14:322–331.
  17. Lesage S, Janin S, Lohmann E, et al: LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. Arch Neurol 2007;64:425–430.
  18. Lesage S, Ibanez P, Lohmann E, et al: G2019S LRRK2 mutation in French and North African families with Parkinson’s disease. Ann Neurol 2005;58:784–787.
  19. Goldwurm S, Zini M, Mariani L, et al: Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology 2007;68:1141–1143.
  20. Kachergus J, Mata IF, Hulihan M, et al: Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 2005;76:672–680.
  21. Di FA, Wu-Chou YH, Lu CS, et al: A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan. Neurogenetics 2006;7:133–138.
  22. Ross OA, Farrer MJ, Wu RM: Common variants in Parkinson’s disease. Mov Disord 2007;22:899–900.