Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

Véronique V. Belzil, Catherine André-Guimont, Marie Renée Atallah, Hussein Daoud, Nicolas Dupré, Jean Pierre Bouchard, William Camu, Patrick A. Dion, Guy A. Rouleau

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Background: Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in . SORT1 or aberrant . SORT1 splicing reduce progranulin level and promote neurodegeneration. Methods: We sequenced the coding exons of . SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant . SORT1 splicing by RT-PCR using RNA samples from cell lines expressing six different ALS-associated . TARDBP mutations. Results: We identified one unique missense and two unique silent mutations in our cohort. None are predicted to have functional effects. No aberrant . SORT1 splicing event was observed. Conclusions: SORT1 mutations are not a common cause of familial ALS, and the influence of . TARDBP mutations on . SORT1 splicing still needs to be clarified.

Original languageEnglish (US)
Pages (from-to)1845.e7-1845.e9
JournalNeurobiology of aging
Issue number8
StatePublished - Aug 2012


  • Amyotrophic lateral sclerosis
  • Genetics
  • Neuromuscular disease

ASJC Scopus subject areas

  • General Neuroscience
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology


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