Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2005 Jul 12;65(1):141-3.
doi: 10.1212/01.wnl.0000167130.31618.0a.

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

T Meyer  1 , A Schwan, J S Dullinger, J Brocke, K-T Hoffmann, C H Nolte, A Hopt, U Kopp, P Andersen, J T Epplen, P Linke
Affiliations
Case Reports

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

T Meyer et al. Neurology. .

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources