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NEUROLOGY 2005;65:141-143
© 2005 American Academy of Neurology
Brief Communications

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

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

From the Departments of Neurology (Drs. Meyer, Dullinger, Brocke, Nolte, Hopt, Kopp, and Linke) and Radiology (Dr. Hoffmann), Charité University Hospital, Berlin, Germany; Department of Human Genetics (Drs. Schwan and Epplen), Ruhr-University of Bochum, Bochum, Germany; Department of Neurology and Clinical Neuroscience (Dr. Andersen), Umea University Hospital, Umea, Sweden.

Address correspondence and reprint requests to Dr. Thomas Meyer, Charité Universitätsmedizin Berlin, Campus Virchow-Klinikum Neurologische Klinik, Ambulanz für ALS und andere Motoneuronenerkrankungen, Augustenburger Platz 1, 13353 Berlin, Germany; e-mail: thomas.meyer{at}charite.de

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.

This work was supported by the Immendorff-Fonds for ALS Research (TM, JSD).

Received February 9, 2005. Accepted in final form March 23, 2005.




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