OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME
OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME
ABSTRACT Ataxias is one of the most frequent complaints in Neurogenetics units worldwide. Currently, more than 50 subtypes of spinocerebellar ataxias and more than 60 recessive ataxias are recognized. We conducted an 11-year prospective, observational, analytical study in order to estimate the frequency of pediatric and adult genetic ataxias in Argentina, to describe the phenotypes of this cohort and evaluate the diagnostic yield of the algorithm used in our unit. We included 334 ataxic patients. Our diagnostic approach was successful in one third of the cohort. A final molecular diagnosis was reached in 113 subjects. This rate is significantly higher in the subgroup of patients with a positive family history, where the diagnostic yield increased to 55%. The most prevalent dominant and recessive ataxias in Argentina were SCA-2 (36% of dominant ataxias) and FA (62% of recessive ataxias), respectively. Next generation sequencing based assays were diagnostic in the 65% of the patients requiring these tests. These results provide relevant epidemiological information, bringing a comprehensive knowledge of the most prevalent subtypes of genetic ataxias and their phenotypes in our territory and laying the groundwork for rationally implementing genetic diagnostic programs for these disorders in our country.
Maturo J Perez、Rosales J、Medina N、Salinas V、Garretto N、Rodr¨aguez-Quiroga S.、Kauffman MA、C¨?rdoba M、Zavala L、Gonz¨￠lez-Mor¨?n D、Vega P、Arakaki T
Neurogenetics Unit. Hospital JM Ramos Mejia||Precision Medicine and Genomics Group, IIMT-CONICET and Faculty of Biomedical Sciences-Universidad AustralNeurogenetics Unit. Hospital JM Ramos MejiaNeurogenetics Unit. Hospital JM Ramos MejiaNeurogenetics Unit. Hospital JM Ramos Mejia||Precision Medicine and Genomics Group, IIMT-CONICET and Faculty of Biomedical Sciences-Universidad AustralMovement Disorders Area, Neurology Division, J.M. Ramos Mej¨aa Hospital, CABA. University Center of Neurology ?°Jos¨| Mar¨aa Ramos Mej¨aa?±, Faculty of Medicine, University of Buenos AiresNeurogenetics Unit. Hospital JM Ramos Mejia||Movement Disorders Area, Neurology Division, J.M. Ramos Mej¨aa Hospital, CABA. University Center of Neurology ?°Jos¨| Mar¨aa Ramos Mej¨aa?±, Faculty of Medicine, University of Buenos AiresNeurogenetics Unit. Hospital JM Ramos Mejia||Precision Medicine and Genomics Group, IIMT-CONICET and Faculty of Biomedical Sciences-Universidad AustralNeurogenetics Unit. Hospital JM Ramos MejiaNeurogenetics Unit. Hospital JM Ramos MejiaNeurogenetics Unit. Hospital JM Ramos MejiaNeurogenetics Unit. Hospital JM Ramos MejiaMovement Disorders Area, Neurology Division, J.M. Ramos Mej¨aa Hospital, CABA. University Center of Neurology ?°Jos¨| Mar¨aa Ramos Mej¨aa?±, Faculty of Medicine, University of Buenos Aires
神经病学、精神病学遗传学医学研究方法
Spinocerebellar AtaxiasAutosomal Recessive Cerebellar AtaxiasArgentinaCerebellar AtaxiaNext Generation Sequencing
Maturo J Perez,Rosales J,Medina N,Salinas V,Garretto N,Rodr¨aguez-Quiroga S.,Kauffman MA,C¨?rdoba M,Zavala L,Gonz¨￠lez-Mor¨?n D,Vega P,Arakaki T.OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME[EB/OL].(2025-03-28)[2025-05-28].https://www.medrxiv.org/content/10.1101/2020.03.20.20036996.点此复制
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