Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts - Takeaways - MDSpire
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Identification of ARPP21 as a Key Gene Associated with Amyotrophic Lateral Sclerosis Through Familial, Neuropathological, and Cellular Investigations in French Populations

  • By

  • Sibylle de Bertier

  • Maria-Del-Mar Amador

  • Claire Guissart

  • Tomoko Miki

  • Séverine Boillée

  • Christian S. Lobsiger

  • Delphine Bohl

  • Anne-Laure Fauret-Amsellem

  • Adrien Bohic

  • Anna-Gaelle Giguet-Valard

  • Rémi Bellance

  • Katell Beauvais

  • Vincent Meininger

  • Gaelle Bruneteau

  • François Salachas

  • Christophe Vial

  • William Camu

  • Florence Esselin

  • Elisa de la Cruz

  • Emilien Bernard

  • Danielle Seilhean

  • Stéphanie Millecamps

  • September 4, 2026

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  • 1

    Amyotrophic lateral sclerosis (ALS) is primarily sporadic, with familial cases accounting for about 10% of occurrences.

  • 2

    Whole-exome sequencing revealed an ARPP21 variant associated with ALS in a large French pedigree with autosomal dominant transmission.

  • 3

    The ARPP21 variant c.1586C>T, p.Pro529Leu was identified as a high-effect variant in a large study involving 17,919 ALS cases.

  • 4

    The study involved genetic analysis of 1190 French ALS patients, focusing on those without pathogenic variants in known ALS genes.

  • 5

    Neuropathological analyses were conducted on post-mortem tissues from ALS patients to investigate the impact of ARPP21 variants.

Original Source(s)

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

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

  • September 4, 2026

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