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.