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Research Article

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

, , , , , , , & show all
Pages 228-230 | Received 22 Dec 2010, Accepted 23 Feb 2011, Published online: 28 Mar 2011
 

Abstract

We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.

Acknowledgements

The authors would like to thank the index patient and his family for participation in this study.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

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