Chromosome 9 ALS and FTD locus is probably derived from a single founder

Kin Mok, Bryan J Traynor, Jennifer Schymick, Pentti J Tienari, Hannu Laaksovirta, Terhi Peuralinna, Liisa Myllykangas, Adriano Chiò, Aleksey Shatunov, Bradley F Boeve, Adam L Boxer, Mariely DeJesus-Hernandez, Ian R Mackenzie, Adrian Waite, Nigel Williams, Huw R Morris, Javier Simón-Sánchez, John C van Swieten, Peter Heutink, Gabriella RestagnoGabriele Mora, Karen E Morrison, Pamela J Shaw, Pamela Sara Rollinson, Ammar Al-Chalabi, Rosa Rademakers, Stuart Pickering-Brown, Richard W Orrell, Michael A Nalls, John Hardy

Research output: Contribution to journalArticlepeer-review

110 Citations (Scopus)


We and others have recently reported an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms on chromosome 9p21 in several populations. Here we show that the associated haplotype is the same in all populations and that several families previously shown to have genetic linkage to this region also share this haplotype. The most parsimonious explanation of these data are that there is a single founder for this form of disease.

Original languageEnglish
Pages (from-to)209.e3-8
JournalNeurobiology of Aging
Issue number1
Publication statusPublished - Jan 2012


  • Amyotrophic Lateral Sclerosis
  • Chromosomes, Human, Pair 9
  • Finland
  • Frontotemporal Dementia
  • Genetic Linkage
  • Genome-Wide Association Study
  • Haplotypes
  • Humans
  • Polymorphism, Single Nucleotide
  • Journal Article
  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't


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