title: Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.
abstract: OBJECTIVE
  Laminopathies arise through mutations in genes encoding Lamin A/C (LMNA) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders.
  
  
  METHODS
  We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation.
  
  
  CONCLUSIONS
  In young patients with ischemic events and a positive family history, other progeroid features have to be searched and LMNA testing has to be considered, allowing for genetic counseling and presymptomatic testing of at-risk relatives.
authors.affiliation: Department of Neurology, CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, France. dimitrirenard@hotmail.com
authors.forename: Dimitri
authors.initials: D
authors.lastname: Renard
authors.forename: Genevieve
authors.initials: G
authors.lastname: Fourcade
authors.forename: Didier
authors.initials: D
authors.lastname: Milhaud
authors.forename: Didier
authors.initials: D
authors.lastname: Bessis
authors.forename: Vera
authors.initials: V
authors.lastname: Esteves-Vieira
authors.forename: Amandine
authors.initials: A
authors.lastname: Boyer
authors.forename: Patrice
authors.initials: P
authors.lastname: Roll
authors.forename: Patrice
authors.initials: P
authors.lastname: Bourgeois
authors.forename: Nicolas
authors.initials: N
authors.lastname: Levy
authors.forename: Annachiara
authors.initials: A
authors.lastname: De Sandre-Giovannoli
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002545:Brain Ischemia / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005190:Family; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D014057:Tomography, X-Ray Computed; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D034904:Lamin Type A; D004247:DNA