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

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.

Key words::

• Amyotrophic lateral sclerosis
• senataxin
• familial
• Italian

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.