A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis

H. Aksoy; G. Dean; M. Elian; H.X. Deng; G. Deng; T. Juneja; E. Storey; R.J. Mckinlay Gardner; R.L. Jacob; Nigel Laing; T. Siddique

doi:10.1159/000070564

A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis

H. Aksoy, G. Dean, M. Elian, H.X. Deng, G. Deng, T. Juneja, E. Storey, R.J. Mckinlay Gardner, R.L. Jacob, Nigel Laing, T. Siddique

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

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. Copyright (C) 2003 S. Karger AG, Basel.

Original language	English
Pages (from-to)	235-238
Journal	Neuroepidemiology
Volume	22
Issue number	4
DOIs	https://doi.org/10.1159/000070564
Publication status	Published - 2003

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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. Copyright (C) 2003 S. Karger AG, Basel.",

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AU - Aksoy, H.

AU - Dean, G.

AU - Elian, M.

AU - Deng, H.X.

AU - Deng, G.

AU - Juneja, T.

AU - Storey, E.

AU - Mckinlay Gardner, R.J.

AU - Jacob, R.L.

AU - Laing, Nigel

AU - Siddique, T.

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. Copyright (C) 2003 S. Karger AG, Basel.

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JO - Neuroepidemiology

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ER -

A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis

Abstract

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