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Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.
- Source :
-
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases [Amyotroph Lateral Scler] 2011 May; Vol. 12 (3), pp. 228-30. Date of Electronic Publication: 2011 Mar 28. - Publication Year :
- 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.
- Subjects :
- Age of Onset
Amyotrophic Lateral Sclerosis diagnosis
DNA Helicases
DNA Mutational Analysis
Female
Humans
Male
Multifunctional Enzymes
Pedigree
Young Adult
Amyotrophic Lateral Sclerosis genetics
Amyotrophic Lateral Sclerosis physiopathology
Disease Progression
Mutation, Missense
RNA Helicases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1471-180X
- Volume :
- 12
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
- Publication Type :
- Academic Journal
- Accession number :
- 21438761
- Full Text :
- https://doi.org/10.3109/17482968.2011.566930