title: Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.
abstract: The authors present a 50-year-old patient with adult-onset amyotrophic lateral sclerosis (ALS) that was rapidly progressing. Screening of the spastin gene revealed a heterozygous missense change S44L. We excluded the involvement of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1). This unusual phenotype shows that allelic variants of spastin may predispose bearers to a greater spectrum of motor neuron disorders including ALS.
authors.affiliation: Department of Neurology, Jewish Hospital Berlin, Berlin, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Münch
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Thomas
authors.initials: T
authors.lastname: Meyer
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D000074181:Spastin; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human