title: Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.
abstract: OBJECTIVE
  Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD.
  
  
  METHODS
  The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD.
  
  
  RESULTS
  Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear.
  
  
  CONCLUSIONS
  PGRN mutations are not a common cause of ALS phenotypes.
authors: Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, Maryland, USA.
authors: J C
authors: JC
authors: Schymick
authors: Y
authors: Y
authors: Yang
authors: P M
authors: PM
authors: Andersen
authors: J P
authors: JP
authors: Vonsattel
authors: M
authors: M
authors: Greenway
authors: P
authors: P
authors: Momeni
authors: J
authors: J
authors: Elder
authors: A
authors: A
authors: Chiò
authors: G
authors: G
authors: Restagno
authors: W
authors: W
authors: Robberecht
authors: C
authors: C
authors: Dahlberg
authors: O
authors: O
authors: Mukherjee
authors: A
authors: A
authors: Goate
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authors: N
authors: Graff-Radford
authors: R J
authors: RJ
authors: Caselli
authors: M
authors: M
authors: Hutton
authors: J
authors: J
authors: Gass
authors: A
authors: A
authors: Cannon
authors: R
authors: R
authors: Rademakers
authors: A B
authors: AB
authors: Singleton
authors: O
authors: O
authors: Hardiman
authors: J
authors: J
authors: Rothstein
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authors: Hardy
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authors: BJ
authors: Traynor
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications* / Q000235:genetics*; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D003704:Dementia / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D000077153:Progranulins
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins