التفاصيل البيبلوغرافية
| العنوان: |
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region. |
| المؤلفون: |
Salas, P. Carrasco, Fernández, E. Martínez, Méndez del Barrio, C., Mira, A. Serrano, Moreno, N. Guerrero, Royo, I., Delgado, M., Oropesa, J. M., Vázquez Rico, I. |
| المصدر: |
International Journal of Neuroscience; Aug2022, Vol. 132 Issue 8, p767-777, 11p |
| مصطلحات موضوعية: |
FAMILIAL spastic paraplegia, SCIENTIFIC knowledge, GENETIC variation, GENE families, TECHNOLOGICAL innovations, SYMPTOMS |
| مصطلحات جغرافية: |
SPAIN |
| مستخلص: |
Introduction: Spastic paraplegia (SPG) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations. Despite of the new molecular technologies, many patients remain yet undiagnosed. Objective: The purpose of this study was to describe the clinical presentation and molecular characteristics of a cohort of 27 patients from 18 different families with SPG in the south of Spain. Methods: We used a targeted next-generation sequencing (NGS) approach to study a proband from each family. Results: Variants in SPG11 gene were the most common cause of SPG in our area. We made a genetic diagnosis in 52% of cases, identified 3 novel variants and reclassified one uncertain variant in SPG11 gene as pathogenic variant. We identified a patient with two truncanting mutations in SPG11 gene and late onset disease and report another missense mutation outside of motor domain of KIF1A gene in a family with pure SPG. Conclusion: Our study contributes to enhance the scientific knowledge of SPG. It is important to note the large group of cases (48%) that were not genetically diagnosed in our cohort. Therefore NGS approach is an efficient diagnostic tool, but it still large the number of non-diagnosed subjects, suggesting further genetic heterogeneity. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
