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Article

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Clinical genetics - 1 Jun 2025

Morais Sara, Leal Loureiro José, Brandão Eva, Sequeiros Jorge, Stevanin Giovanni, Santos Mariana

Abstract excerpt

Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without a molecular diagnosis. In this study, linkage analysis and whole-exome sequencing (WES) were performed to identify the causal gene in a HSP family with autosomal recessive inheritance....

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Share to Exome Sequencing
Share to Genetic Linkage
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pedigree

Share to RNA Splicing

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 39726207
DOI: 10.1111/cge.14690

Genes

AIMP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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