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
作者： J. Perez Maturo , L. Zavala , P. Vega , D. González-Morón , N. Medina
DOI: 10.1038/S10038-020-0785-Z
关键词: Family history 、 Gene 、 Neurogenetics 、 Observational study 、 Spinocerebellar ataxia 、 Epidemiology 、 Medicine 、 Cohort 、 Algorithm 、 Genetic heterogeneity
摘要: Ataxias are one of the most frequent complaints in Neurogenetics units worldwide. Currently, more than 50 subtypes spinocerebellar ataxias and 60 recessive recognized. We conducted an 11-year prospective, observational, analytical study order to estimate frequency pediatric adult genetic Argentina, describe phenotypes this cohort evaluate diagnostic yield algorithm used our unit. included 334 ataxic patients. Our approach was successful one-third cohort. A final molecular diagnosis reached 113 subjects. This rate is significantly higher subgroup patients with a positive family history, where increased 55%. The prevalent dominant Argentina were SCA-2 (36% ataxias) FA (62% ataxias), respectively. Next generation sequencing-based assays 65% requiring these tests. These results provide relevant epidemiological information, bringing comprehensive knowledge their territory laying groundwork for rationally implementing programs disorders country.
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