Early-onset ALS with long-term survival associated with spastin gene mutation

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 spastingene. We propose that sequence alterations of spastinmay comprise a genetic risk factor in a greater spectrum of motor neuron disorders including clinical variants of ALS.