title: The rare G93D mutation causes a slowly progressing lower motor neuron disease.
abstract: We describe an ALS family with the rare SOD1 G93D mutation. Three members of the family developed ALS at an age ranging from 45 to 71 years. In all cases pyramidal signs were not evident. Two members of the family were obligate gene carriers, and died at 56 and 81years, respectively, without developing ALS signs or symptoms. The mutation was found in the DNA extracted from the hair bulbs in the two deceased obligate carriers and in another family member who died at 80 years of age without any sign of the disease. This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance.
authors.affiliation: Molecular Diagnosis and Genetic Counselling Unit, Children's Hospital, Turin.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Federica
authors.initials: F
authors.lastname: Lombardo
authors.forename: Luca
authors.initials: L
authors.lastname: Sbaiz
authors.forename: Cristina
authors.initials: C
authors.lastname: Mari
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: Dario
authors.initials: D
authors.lastname: Alimonti
authors.forename: Andrea
authors.initials: A
authors.lastname: Calvo
authors.forename: Luisella
authors.initials: L
authors.lastname: Tarenzi
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
mesh_terms: D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D018450:Disease Progression; D005260:Female; D006580:Genetic Carrier Screening; D018859:Hair Follicle / Q000737:chemistry / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D013482:Superoxide Dismutase / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1