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Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

European journal of neurology - 1 Jan 2026

Carretero-Vilarroig Lidón, Sivera Rafael, Baviera Raquel, Espinós Carmen, Muelas Nuria, Vazquez-Costa Juan Francisco, Aller Elena, Bataller Luis, Jaijo Teresa

Abstract excerpt

BACKGROUND: Hereditary spastic paraparesis (HSP) encompasses a genetically and clinically heterogeneous group of neurodegenerative disorders, primarily characterized by progressive lower limb spasticity and weakness of the lower limbs. Although more than 80 genes have been associated with HSP, achieving definite genetic diagnosis remains challenging, limiting effective patient care, genetic counseling, and...

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ATPases Associated with Diverse Cellular Activities
Exome Sequencing
Genetic Association Studies
Metalloendopeptidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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Open in PubMed Open full text

Identifiers

PMID: 41560358
DOI: 10.1111/ene.70475
PMCID: PMC12820346

Genes

SPAST
SPG7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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