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Neurology. 2005 Jul 12;65(1):141-3.

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

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Department of Neurology, University Hospital, Berlin, Germany.


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.

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