Past, present, and future of genomic technologies in cerebellar ataxias.

ABSTRACT: Inherited cerebellar ataxias (ICA) are a group of rare, genetically and clinically heterogeneous neurodegenerative disorders, often caused by a broad spectrum of genetic variants, including single nucleotide variants, structural variations, and especially short tandem repeat (STR) expansions. Over time, advances in genomic technologies have profoundly reshaped the diagnostic approach and scientific understanding of ICA. This review traces the evolution of genomic tools, from first-generation methods, such as Sanger sequencing and southern blot, through the revolution brought by short-read second-generation sequencing, including gene panels, exome sequencing (ES), and genome sequencing (GS). These technologies significantly increased diagnostic yield and enabled the discovery of numerous IC

SUBMITTER: Lucain M 

PROVIDER: S-EPMC12598688 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature