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

Francesca Avemaria; Christian Lunetta; Claudia Tarlarini; Lorena Mosca; Eleonora Maestri; Alessandro Marocchi; Mario Melazzini; Silvana Penco; Massimo Corbo

doi:10.3109/17482968.2011.566930

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

Amyotroph Lateral Scler. 2011 May;12(3):228-30. doi: 10.3109/17482968.2011.566930. Epub 2011 Mar 28.

Authors

Francesca Avemaria¹, Christian Lunetta, Claudia Tarlarini, Lorena Mosca, Eleonora Maestri, Alessandro Marocchi, Mario Melazzini, Silvana Penco, Massimo Corbo

Affiliation

¹ Department of Laboratory Medicine, Medical Genetics, Milan, Italy.

PMID: 21438761
DOI: 10.3109/17482968.2011.566930

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.

Publication types

Case Reports

MeSH terms

Age of Onset
Amyotrophic Lateral Sclerosis / diagnosis
Amyotrophic Lateral Sclerosis / genetics*
Amyotrophic Lateral Sclerosis / physiopathology*
DNA Helicases
DNA Mutational Analysis
Disease Progression*
Female
Humans
Male
Multifunctional Enzymes
Mutation, Missense*
Pedigree
RNA Helicases / genetics*
Young Adult

Substances

Multifunctional Enzymes
SETX protein, human
DNA Helicases
RNA Helicases