Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 8618684.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We examined the neurofilament heavy subunit (NEFH) as a candidate gene for familial amyotrophic lateral sclerosis. We screened the KSP repeat region of the NEFH gene in 117 unrelated individuals who inherited familial amyotrophic lateral sclerosis as an autosomal trait but who do not have the mutation in the SOD1 locus, and we found no variants in any individual. We conclude that the motor neuron degeneration observed in non-SOD1 familial amyotrophic lateral sclerosis is not due to mutations in the KSP repeat of the NEFH gene.
Medical subject headings
- Amyotrophic Lateral Sclerosis
- Neurofilament Proteins
- Repetitive Sequences, Nucleic Acid