PO095 Utility of ataxia gene panel testing in irish inherited ataxia cases

    loading  Checking for direct PDF access through Ovid

Abstract

Inherited ataxias are heterogeneous neurodegenerative disorders in which diagnostic evaluation is often challenging. The success in obtaining a diagnosis increases with evaluation at dedicated ataxia clinics with comprehensive clinical assessment, appropriate genetic evaluation and the use of next generation sequencing (NGS) techniques. Forty-eight genetically undiagnosed patients with early or late-onset ataxia were tested using NGS gene panels. Forty six percent were male, average age was 52.9 years. Most were sporadic cases (67%), half of them adult-onset. Of the familial cases, 56% had late symptom onset. Definite genetic diagnosis was obtained in 17 patients (35.4%), an impressive yield given the heterogeneity of cerebellar ataxias. In addition, potentially pathogenic compound heterozygous variants were found in three patients, a novel variant in a dominant gene in four cases and a single heterozygous variant in a recessive gene that could potentially explain the phenotype in 7 cases. A commercial NGS panel approach has increased the rate of positive genetic results where traditional methods were unsuccessful. NGS in genetically undetermined ataxia patients has delivered new diagnostic potential, providing a diagnosis in more than one-third of patients in our cohort; higher than in other published cohorts.

Related Topics

    loading  Loading Related Articles