Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

ABSTRACT:

Objective

The hereditary spastic-ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long-read sequencing.

Methods

We developed a targeted long-read sequencing strategy with the capacity to characterise the genetic variation of all types and sizes within 469 disease-associated genes, in a single assay. We applied this to a cohort of 34 individuals with unsolved spastic-ataxia. An additional five individuals with a known genetic diagnosis were included as positive controls.

Results

We identified causative pathogenic variants that would be sufficient for genetic diagnosis in 14/34 (41%) unsolved participa

SUBMITTER: Rudaks LI 

PROVIDER: S-EPMC12040508 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature