title: Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case.
abstract: Although defects in the gene encoding the enzyme cytosolic copper/zinc superoxide dismutase (SOD1) have been reported in 20% of familial amyotrophic lateral sclerosis (ALS) patients, the etiology of the remaining familial cases and the more common sporadic form of the disease remains unknown. Recently, deletions of the neuronal apoptosis inhibitory protein gene NAIP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system. We have therefore investigated the possibility of alterations in SMN and NAIP in 154 patients with ALS (135 sporadic cases, 17 familial cases). None of these patients revealed mutations in SMN by single-strand conformation polymorphism analysis. A single patient revealed a partial deletion of NAIP, with a homozygous absence of NAIP exon 5. While it is possible that this individual is one of the rare carriers of SMA who show NAIP deletions, a further explanation is that the NAIP deletion is in some way contributing to the ALS phenotype in this individual.
authors.affiliation: Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
authors.forename: M
authors.initials: M
authors.lastname: Jackson
authors.forename: K E
authors.initials: KE
authors.lastname: Morrison
authors.forename: A
authors.initials: A
authors.lastname: Al-Chalabi
authors.forename: M
authors.initials: M
authors.lastname: Bakker
authors.forename: P N
authors.initials: PN
authors.lastname: Leigh
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D017209:Apoptosis / Q000235:genetics*; D015139:Blotting, Southern; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005784:Gene Amplification; D017353:Gene Deletion; D016678:Genome; D006720:Homozygote; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D017931:DNA Primers