Article Text

other Versions

PDF
CHMP2B mutations are not a common cause of familial or sporadic ALS
  1. Ian P Blair (iblair{at}med.usyd.edu.au)
  1. ANZAC Research Institute, Australia
    1. Caroline Vance (caroline.vance{at}iop.kcl.ac.uk)
    1. King's College London, United Kingdom
      1. Jennifer C Durnall (jdurnall{at}med.usyd.edu.au)
      1. ANZAC Research Institute, Australia
        1. Kelly L Williams (klwilliams{at}med.usyd.edu.au)
        1. ANZAC Research Institute, Australia
          1. Annora Thoeng (atho0065{at}mail.usyd.edu.au)
          1. ANZAC Research Institute, Australia
            1. Christopher E Shaw (christopher.shaw{at}iop.kcl.ac.uk)
            1. King's College London, United Kingdom
              1. Garth A Nicholson (garthn{at}med.usyd.edu.au)
              1. ANZAC Research Institute, Australia

                Abstract

                Around 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS), with the remainder being sporadic (SALS). Known ALS genes combined (including superoxide dismutase 1, SOD1) only account for about 20% of familial ALS cases, or around 2% of all ALS cases. Frontotemporal dementia (FTD) is estimated to be associated with between 3 and 22% of ALS cases and as many as one half of ALS cases appear to have frontotemporal impairment.1 Families with co-morbid ALS and FTD are increasingly being recognised, and linkage analysis has implicated loci on chromosome 9.1 Combined, this strongly suggests that ALS and FTD share a common pathogenic basis. Indeed, clinical and pathologic overlap has been demonstrated for these disorders.

                • dementia
                • gene
                • motor neuron
                • mutation

                Statistics from Altmetric.com

                Request permissions

                If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.