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Neurology 2002;59:1456-1460
© 2002 American Academy of Neurology
Brief Communications

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

J. Gamez, MD, M. J. Barceló, RN, X. Muñoz, MD, F. Carmona, PhD, I. Cuscó, BSc, M. Baiget, PhD, C. Cervera, MD PhD and E.F. Tizzano, MD PhD

From the Departments of Neurology (Drs. Gamez and Cervera) and Pneumology (Dr. Muñoz), Hospital General Vall d’Hebron; Department of Genetics (Drs. Baiget and Tizzano, M.J. Barceló and I. Cuscó), Hospital Sant Pau; and Department of Statistics (Dr. Carmona), University of Barcelona, Spain.

Address correspondence and reprint requests to Dr. Josep Gamez, Neurology Department, Hospital General Vall d’Hebron, Passeig Vall d’Hebron 119-135, 08035 Barcelona, Spain; e-mail: 12784jgc{at}comb.es; or Dr. Tizzano, Department of Genetics, Hospital Saint Pau; e-mail: etizzano@hsp.santpau.es

The presence of the SMN2 deletion in 124 patients with ALS was investigated. Eleven patients had the homozygous deletion of SMN2 (8.8%) in comparison with 20 of 200 (10%) of the healthy control population. No significant differences in sex, age at onset, initial symptoms, form of inheritance, decline in ventilatory function, or survival time were found between patients with and without the deletion. The hypothesis that SMN2 is a prognostic factor in sporadic or familial ALS was not confirmed in this study.




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