RT Journal Article SR Electronic T1 Early-onset ALS with long-term survival associated with spastin gene mutation JF Neurology JO Neurology FD Lippincott Williams & Wilkins SP 141 OP 143 DO 10.1212/01.wnl.0000167130.31618.0a VO 65 IS 1 A1 Meyer, T. A1 Schwan, A. A1 Dullinger, J. S. A1 Brocke, J. A1 Hoffmann, K. -T. A1 Nolte, C. H. A1 Hopt, A. A1 Kopp, U. A1 Andersen, P. A1 Epplen, J. T. A1 Linke, P. YR 2005 UL http://n.neurology.org/content/65/1/141.abstract 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.