A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.
BACKGROUND
Primary lateral sclerosis (PLS) is an adult-onset upper motor neuron disease resulting in spinal and bulbar spasticity. A family with 8 individuals diagnosed with PLS was previously reported.


OBJECTIVE
To identify a locus for a large family with PLS.


METHODS
A 550-marker whole-genome scan was performed on this family followed by fine mapping with sequence-tagged site markers to identify a candidate region.


RESULTS
A locus was identified for this family between the telomere of chromosome 4 and marker D4S2928 (4ptel-4p16.1). A maximum lod score of 3.01 was obtained for marker D4S2936. The region spans 23.17 cM (10.2 megabase pairs) and encompasses 130 genes.


CONCLUSIONS
PLS1 does not map near any other identified loci for upper or lower motor neuron diseases and thus represents a novel locus for PLS.
Valdmanis
Paul N
PN
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Dupré
Nicolas
N
Rouleau
Guy A
GA
D000328:Adult; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005192:Family Health; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D016472:Motor Neuron Disease / Q000235:genetics*; D040641:Quantitative Trait Loci