Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.

doi:10.1007/s00401-026-03075-6

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Article

Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.

Acta neuropathologica - 4 Sept 2026

de Bertier Sibylle, Amador Maria-Del-Mar, Guissart Claire, Miki Tomoko, Boillée Séverine, Lobsiger Christian S, Bohl Delphine, Fauret-Amsellem Anne-Laure, Bohic Adrien, Giguet-Valard Anna-Gaelle, Bellance Rémi, Beauvais Katell, Meininger Vincent, Bruneteau Gaelle, Salachas François, Vial Christophe, Camu William, Esselin Florence, de la Cruz Elisa, Bernard Emilien, Seilhean Danielle, Millecamps Stéphanie

Abstract excerpt

ARPP21 has recently emerged as a new amyotrophic lateral sclerosis (ALS) associated gene but its pathogenic role remains unclear. In this study we performed familial, clinical, neuropathological and cellular analyses to characterize the recurrent p.P529L and p.P713L variants (also known as p.P563L variant and p.P747L variant, respectively) in our French ALS cohort of 1190 ALS cases and 50 additional family...

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Topics

Humans
Amyotrophic Lateral Sclerosis
France
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Middle Aged

Cohort Studies

Aged

Adult

DNA-Binding Proteins

Genetic Predisposition to Disease

Mutation

Animals

Brain

Source

Open in PubMed Open full text

Identifiers

PMID: 42696048
DOI: 10.1007/s00401-026-03075-6
PMCID: PMC13545126

Genes

ARPP21

Provenance

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