Early-onset ALS with long-term survival associated with spastin gene mutation.
case_report · Level V
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Abstract
The authors report a 73-year-old patient with a natural history of early-onset ALS for 49 years presenting with limb and bulbar amyotrophy and a pyramidal syndrome. Analysis of the locus SPG4 identified a heterozygous duplication mutation (c.304_309dupGCCTCG) within exon 1 of the spastin gene. We propose that sequence alterations of spastin may comprise a genetic risk factor in a greater spectrum of motor neuron disorders including clinical variants of ALS.
Medical subject headings
- Adenosine Triphosphatases
- Amyotrophic Lateral Sclerosis
- Genetic Predisposition to Disease
- Mutation
- Survivors