Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint DOI Creative Commons

Jin Sook Lee

Genomics & Informatics, Journal Year: 2024, Volume and Issue: 22(1)

Published: Oct. 10, 2024

Advancements in sequencing technology have significantly enhanced diagnostic capabilities for rare neurological diseases. This progress molecular diagnostics can greatly impact clinical management and facilitate the development of personalized treatments patients with Neurologists expertise should raise awareness, as phenotyping remains crucial making a diagnosis, even genomics era. They prioritize different types genomic tests, considering both benefits limitations inherent to each test. Notably, long-read is being utilized cases suspected involve repeat expansion disorders or complex structural variants. Repeat are highly prevalent diseases, particularly within ataxia group. Significant efforts, including periodic reanalysis, data sharing, integration multi-omics studies, be directed toward that remain undiagnosed after standard next-generation sequencing.

Language: Английский

Cerebellar Pathology in Forensic and Clinical Neuroscience DOI
Azhagu Madhavan Sivalingam,

Darshitha D Sureshkumar

Ageing Research Reviews, Journal Year: 2025, Volume and Issue: unknown, P. 102697 - 102697

Published: Feb. 1, 2025

Language: Английский

Citations

0
STOP-HSP.net: An Italian formal registry for clinical trial readiness in hereditary spastic paraplegias DOI
Sara Satolli, Salvatore Rossi, Leonardo Boccuni

et al.

Neurological Sciences, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 22, 2025

Language: Английский

Citations

0
Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint DOI Creative Commons

Jin Sook Lee

Genomics & Informatics, Journal Year: 2024, Volume and Issue: 22(1)

Published: Oct. 10, 2024

Advancements in sequencing technology have significantly enhanced diagnostic capabilities for rare neurological diseases. This progress molecular diagnostics can greatly impact clinical management and facilitate the development of personalized treatments patients with Neurologists expertise should raise awareness, as phenotyping remains crucial making a diagnosis, even genomics era. They prioritize different types genomic tests, considering both benefits limitations inherent to each test. Notably, long-read is being utilized cases suspected involve repeat expansion disorders or complex structural variants. Repeat are highly prevalent diseases, particularly within ataxia group. Significant efforts, including periodic reanalysis, data sharing, integration multi-omics studies, be directed toward that remain undiagnosed after standard next-generation sequencing.

Language: Английский

Citations

1