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

ABSTRACT:

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 understanding of genotype-phenotype correlations. This study aimed to investigate the diagnostic yield of clinical exome sequencing (CES) in a cohort of Spanish individuals with suspected HSP and to explore genotype-phenotype correlations.

Methods

A total of 139 non-related Spanish individuals with HSP underwent standardized clinical evaluation and CES. Genetic analyses wer

SUBMITTER: Carretero-Vilarroig L 

PROVIDER: S-EPMC12820346 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature