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Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Neurogenetics - 25 Jun 2025

Messaoud-Khelifi Mouna, Boulariah-Hadjou Razika, Kediha Mohamed Islam, Guillot-Noel Lena, Guillaud-Bataille Marine, Durand Christelle Marie, Ali-Pacha Lamia, Amer El Khedoud Wahiba, Mochel Fanny, de Sainte-Agathe Jean-Madeleine, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases that include more than 90 genetic forms. The diagnosis of HSPs is challenging owing to their exceptional clinical and genetic heterogeneity. Using whole exome sequencing (WES), we investigated the genetic and clinical features of 29 patients from 16 Algerian families diagnosed with HSPs. The prevalence of complicated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40560206
DOI: 10.1007/s10048-025-00833-8

Genes

AMFR
ATP13A2
GBA2
HPDL
SPAST
SPG11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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