A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis

Hatice Aksoy, Geoffrey Dean*, Marta Elian, H. X. Deng, Gang Deng, Tony Juneja, Elsdon Storey, R. J. McKinlay Gardner, Rebecca L. Jacob, Nigel G. Laing, Teepu Siddique

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)235-238
Number of pages4
JournalNeuroepidemiology
Volume22
Issue number4
DOIs
StatePublished - Jun 20 2003

Keywords

  • A4T
  • Large kindred
  • Lower motor neuron
  • SOD1
  • Short survival

ASJC Scopus subject areas

  • Epidemiology
  • Clinical Neurology

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