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Article

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

Neurology - 12 Jul 2005

Meyer T, Schwan A, Dullinger J S, Brocke J, Hoffmann K-T, Nolte C H, Hopt A, Kopp U, Andersen P, Epplen J T, Linke P

Abstract excerpt

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...

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Source

Identifiers

PMID: 16009903
DOI: 10.1212/01.wnl.0000167130.31618.0a

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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