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

doi:10.1159/000070564

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

Neurology

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25 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 language	English (US)
Pages (from-to)	235-238
Number of pages	4
Journal	Neuroepidemiology
Volume	22
Issue number	4
DOIs	https://doi.org/10.1159/000070564
State	Published - 2003

Keywords

A4T
Large kindred
Lower motor neuron
SOD1
Short survival

ASJC Scopus subject areas

Clinical Neurology
Epidemiology

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10.1159/000070564

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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.",

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AU - Aksoy, Hatice

AU - Dean, Geoffrey

AU - Elian, Marta

AU - Deng, H. X.

AU - Deng, Gang

AU - Juneja, Tony

AU - Storey, Elsdon

AU - McKinlay Gardner, R. J.

AU - Jacob, Rebecca L.

AU - Laing, Nigel G.

AU - Siddique, Teepu

PY - 2003

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AB - 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.

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KW - Short survival

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A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis

Abstract

Keywords

ASJC Scopus subject areas

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