title: A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis.
abstract: We report the clinical and laboratory findings in the largest kindred so far recorded with familial amyotrophic lateral sclerosis due to an A4T mutation in the SOD1 gene. The age of onset ranged from 32 to 60 years, with a mean of 46 years. Weakness in the legs was the most frequent early symptom and there was a predominance of lower motor neuron signs. The mean time from onset of symptoms to death was 14 months. One man with onset at the age of 37 has shown a slowly developing form and is currently alive 76 months after diagnosis (October 2002), although severely affected. The A4T mutation, with one exception, was of similar severity to the A4V mutation.
authors.affiliation: Department of Neurology, Burhan Nalbantoglu Hospital, Lefkosa (Nicosia), Cyprus, UK.
authors.forename: Hatice
authors.initials: H
authors.lastname: Aksoy
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Dean
authors.forename: Marta
authors.initials: M
authors.lastname: Elian
authors.forename: H X
authors.initials: HX
authors.lastname: Deng
authors.forename: Gang
authors.initials: G
authors.lastname: Deng
authors.forename: Tony
authors.initials: T
authors.lastname: Juneja
authors.forename: Elsdon
authors.initials: E
authors.lastname: Storey
authors.forename: R J
authors.initials: RJ
authors.lastname: McKinlay Gardner
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Jacob
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
authors.forename: Teepu
authors.initials: T
authors.lastname: Siddique
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000401:mortality; D001315:Australia; D003535:Cyprus; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D015996:Survival Rate; D014421:Turkey / Q000208:ethnology
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1