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. Avemaria
Primo
;
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.
Amyotrophic lateral sclerosis; familial; Italian; senataxin
Settore MED/03 - Genetica Medica
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/245691
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