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.