Article
A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis.
Neuroepidemiology - 1 Jan 2000
Aksoy Hatice, Dean Geoffrey, Elian Marta, Deng H X, Deng Gang, Juneja Tony, Storey Elsdon, McKinlay Gardner R J, Jacob Rebecca L, Laing Nigel G, Siddique Teepu
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.