Journal
AMYOTROPHIC LATERAL SCLEROSIS
Volume 7, Issue 3, Pages 142-149Publisher
INFORMA HEALTHCARE
DOI: 10.1080/17482960600732412
Keywords
familial amyotrophic lateral sclerosis; SOD1; VEGF; CNTF; mutations
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About 10% of amyotrophic lateral sclerosis (ALS) cases are familial. We identified a five-generation Chinese family with autosomal dominant familial ALS (FALS). We performed a detailed family study, clinical and electromyographic validation, and SOD1, VEGF and CNTF mutation analyses. Forty-five living members (16 affected) were studied and DNA samples collected. Genealogical data were collected for deceased members. Based on the duration between symptom onset to ventilator dependence, they were divided into rapidly progressive (range 1-18 months, mean (SD) duration = 12.08 (+/- 6.10) months, mean (SD) age of symptom onset= 39.75 (+/- 9.84) years) and slowly progressive groups (> 18 months; mean (SD) age of onset= 37.25 (+/- 5.32) years old). We identified a heterozygous mutation of ATT to ACT of SOD 1 gene at codon 149 in exon 5 resulting in substitution of isoleucine to threonine. It co-segregated with all affected members and 11 non-symptomatic members. We report a large multigenerational Chinese FALS kindred with I149T mutation in SOD1. No polymorphisms or mutations were found to date in two known modifier genes, namely, VEGF and CNTF, which were associated with heterogeneity in the phenotype within this kindred. Follow-up of the family will be helpful to explore any potential disease markers.
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