title: Early-onset ALS with long-term survival associated with spastin gene mutation.
abstract: The authors report a 73-year-old patient with a natural history of early-onset ALS for 49 years presenting with limb and bulbar amyotrophy and a pyramidal syndrome. Analysis of the locus SPG4 identified a heterozygous duplication mutation (c.304_309dupGCCTCG) within exon 1 of the spastin gene. We propose that sequence alterations of spastin may comprise a genetic risk factor in a greater spectrum of motor neuron disorders including clinical variants of ALS.
authors: Department of Neurology, University Hospital, Berlin, Germany. thomas.meyer@charite.de
authors: T
authors: T
authors: Meyer
authors: A
authors: A
authors: Schwan
authors: J S
authors: JS
authors: Dullinger
authors: J
authors: J
authors: Brocke
authors: K-T
authors: KT
authors: Hoffmann
authors: C H
authors: CH
authors: Nolte
authors: A
authors: A
authors: Hopt
authors: U
authors: U
authors: Kopp
authors: P
authors: P
authors: Andersen
authors: J T
authors: JT
authors: Epplen
authors: P
authors: P
authors: Linke
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010244:Bulbar Palsy, Progressive / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011712:Pyramidal Tracts / Q000503:physiopathology; D000074181:Spastin; D017741:Survivors
chemical_list: D004247:DNA; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human