PT - JOURNAL ARTICLE AU - Meyer, T. AU - Schwan, A. AU - Dullinger, J. S. AU - Brocke, J. AU - Hoffmann, K. -T. AU - Nolte, C. H. AU - Hopt, A. AU - Kopp, U. AU - Andersen, P. AU - Epplen, J. T. AU - Linke, P. TI - Early-onset ALS with long-term survival associated with spastin gene mutation AID - 10.1212/01.wnl.0000167130.31618.0a DP - 2005 Jul 12 TA - Neurology PG - 141--143 VI - 65 IP - 1 4099 - http://n.neurology.org/content/65/1/141.short 4100 - http://n.neurology.org/content/65/1/141.full SO - Neurology2005 Jul 12; 65 AB - 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.