New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Brain on February 5, 2026, titled "Diagnostic yield of genome sequencing in children with progressive movement disorders." 

Read the paper here. 

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Transcript: 

New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.

Evaluating the Use of Genome Sequencing in Diagnosing Children with Progressive Movement Disorders.

This summary is based on a paper published in the journal Brain on February 5, 2026.

Childhood-onset movement disorders have a large range of symptoms and genetic causes. Over 500 different genes are associated with these disorders. However, standard genetic testing may not detect some of the genetic variants.

In this study, researchers evaluated the use of genome sequencing in diagnosing children with progressive movement disorders. First, the team used whole genome sequencing to identify variants in 100 children and young adults with early-onset progressive movement disorders and prior nondiagnostic testing. Then, a multidisciplinary team interpreted the variants and matched them with different phenotypes.

Results included a molecular diagnosis in 27% of cases, with candidate variants identified in an additional 33%. Short-read whole genome sequencing showed a small increase in diagnoses over exome sequencing. Most of the diagnoses were achieved through reanalysis of exome-level data. Authors note that these findings highlight the importance of repeat variant interpretation and the need for improved analytic pipelines to fully realize the potential of genome sequencing.