Exome sequencing reveals SPG11 mutations causing juvenile ALS

Hussein Daoud, Sirui Zhou, Anne Noreau, Mike Sabbagh, Veronique Belzil, Alexandre Dionne-Laporte, Christine Tranchant, Patrick Dion, Guy A. Rouleau

Research output: Contribution to journalArticlepeer-review

71 Scopus citations


We report here the description of a nonconsanguineous family with 2 affected individuals with a recessively inherited juvenile motor neuron disease. Exome sequencing of these 2 affected individuals led us to identify 2 compound heterozygous deletions leading to a frameshift and a premature stop codon in the SPG11 gene. One of these deletions, c.5199delA in exon 30, has not been previously reported. Interestingly, these deletions are associated with an intrafamilial phenotypic heterogeneity as one affected has atypical juvenile amyotrophic lateral sclerosis (ALS) and the other has classical hereditary spastic paraplegia with thin corpus callosum. Our findings confirm SPG11 as a genetic cause of juvenile amyotrophic lateral sclerosis and indicate that SPG11 mutations could be associated with 2 different clinical phenotypes within the same family.

Original languageEnglish (US)
Pages (from-to)839.e5-839.e9
JournalNeurobiology of aging
Issue number4
StatePublished - Apr 2012


  • SPG11

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology


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