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Article

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Human genomics - 26 Feb 2026

Safka Brozkova Dana, Paulasova Schwabova Jaroslava, Vyhnalkova Emilie, Lassuthova Petra, Musilova Alena, Novotna Ludmila, Vasova Jana, Uhrova Meszarosova Anna

Abstract excerpt

BACKGROUND: Establish a genetic diagnosis in patients referred for clinical suspicion of hereditary spastic paraplegia (HSP). The cohort of 134 paediatric patients was divided into three groups according to age at symptom onset: group A (0–5 years, n = 82), group B (5–10 years, n = 32), and group C (10–18 years, n = 20). Exome sequencing was followed by virtual panel evaluation of HSP associated genes. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41749354
DOI: 10.1186/s40246-026-00935-w
PMCID: PMC13040777

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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