Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

doi:10.1136/jnnp-2024-333834

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Article

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

Journal of neurology, neurosurgery, and psychiatry - 16 Jan 2025

Dols-Icardo Oriol, Carbayo Álvaro, Jericó Ivonne, Blasco-Martínez Olga, Álvarez-Sánchez Esther, López Pérez Maria Angeles, Bernal Sara, Rodríguez-Santiago Benjamín, Cusco Ivon, Turon-Sans Janina, Cabezas-Torres Manuel, Caballero-Ávila Marta, Vesperinas Ana, Llansó Laura, Pagola-Lorz Inmaculada, Torné Laura, Valle-Tamayo Natalia, Muñoz Laia, Rubio-Guerra Sara, Illán-Gala Ignacio, Cortés-Vicente Elena, Gelpi Ellen, Rojas-García Ricard

Abstract excerpt

BACKGROUND AND OBJECTIVE: Between 5% and 10% of amyotrophic lateral sclerosis (ALS) cases have a family history of the disease, 30% of which do not have an identifiable underlying genetic cause after a comprehensive study of the known ALS-related genes. Based on a significantly increased incidence of ALS in a small geographical region from Spain, the aim of this work was to identify novel ALS-related genes in ALS...

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Identifiers

PMID: 38960585
DOI: 10.1136/jnnp-2024-333834
PMCID: PMC11877019

Genes

ARPP21

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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