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.
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression / F. Avemaria, C. Lunetta, C. Tarlarini, L. Mosca, E. Maestri, A. Marocchi, M. Melazzini, S. Penco, M. Corbo. - In: AMYOTROPHIC LATERAL SCLEROSIS. - ISSN 1748-2968. - 12:3(2011), pp. 228-230. [10.3109/17482968.2011.566930]
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression
F. AvemariaPrimo
;C. Tarlarini;L. Mosca;
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.
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