| Autor: |
Corcia P; a ALS Reference Centre, CHU de Tours.; b Federation of the ALS Center of Tours and Limoges.; c Inserm Unit U1253, Tours University , Inserm , Tours , France and., Brulard C; c Inserm Unit U1253, Tours University , Inserm , Tours , France and., Beltran S; a ALS Reference Centre, CHU de Tours.; b Federation of the ALS Center of Tours and Limoges.; c Inserm Unit U1253, Tours University , Inserm , Tours , France and., Marouillat S; c Inserm Unit U1253, Tours University , Inserm , Tours , France and., Bakkouche SE; a ALS Reference Centre, CHU de Tours., Andres CR; c Inserm Unit U1253, Tours University , Inserm , Tours , France and.; d Department of Biochemistry and Molecular Biology , CHU de Tours , France., Blasco H; c Inserm Unit U1253, Tours University , Inserm , Tours , France and.; d Department of Biochemistry and Molecular Biology , CHU de Tours , France., Vourc'h P; c Inserm Unit U1253, Tours University , Inserm , Tours , France and.; d Department of Biochemistry and Molecular Biology , CHU de Tours , France. |
| Abstrakt: |
Background : Amyotrophic lateral sclerosis is the most frequent motor neuron disorders (MND) in adults. The role of genetic factors is worldwide accepted, and currently, more than 30 genes have been linked to this disease. Genetics was also the matter of numerous studies in distal hereditary motor neuropathies (dHMN). GARS is classically linked to a predominant dHMN and, until now, no mutation has been described in GARS in other MND. Case Report : We report the case of a 70-year-old woman who developed a classical bulbar ALS phenotype. Owing to his familial history of ALS, a genetic screening was performed excluding the main genes linked to ALS and revealing a heterozygous missense mutation in GARS gene with a high probability of pathogenicity. Conclusion : This first description of mutation in GARS in ALS, extends once more the genetic overlap between ALS and other MND. |
