ANALYSIS OF THE KSP REPEAT OF THE NEUROFILAMENT HEAVY SUBUNIT IN FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS

We examined the neurofilament heavy subunit (NEFH) as a candidate gene for familial amyotrophic lateral sclerosis. We screened the KSP repea t region of the NEFH gene in 117 unrelated individuals who inherited f amilial amyotrophic lateral sclerosis as an autosomal trait but who do not have the mutation at the SOD1 locus, and we found no variants in any individual. We conclude that the motor neuron degeneration observe d in non-SOD1 familial amyotrophic lateral sclerosis is not due to mut ations in the KSP repeat of the NEFH gene.