Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts - Report - 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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Identification of ARPP21 as a Key Gene Associated with Amyotrophic Lateral Sclerosis

Overview

This study identifies the ARPP21 gene variant c.1586C>T, p.Pro529Leu as significantly associated with familial amyotrophic lateral sclerosis (ALS) in French populations.

Background

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of motor neurons, leading to paralysis and respiratory failure. While familial ALS accounts for about 10% of cases, the identification of genetic variants like ARPP21 could enhance understanding of ALS mechanisms.

Data Highlights

The study involved 1190 French ALS patients, with Whole Exome Sequencing (WES) conducted on 540 individuals, including 300 familial ALS cases.

Key Findings

  • The ARPP21 variant c.1586C>T, p.Pro529Leu was shared among affected individuals in a large familial ALS pedigree.
  • This variant corresponds to rs1274105958 and has been previously associated with ALS in other studies.
  • Variants in ARPP21 were identified alongside other ALS-associated genes.
  • Whole-exome sequencing revealed additional genetic contributors to ALS.

Clinical Implications

The identification of ARPP21 as a key gene in familial ALS highlights the need for further research into genetic factors in ALS.

Conclusion

The findings of this study support the need for further research into the role of ARPP21 in ALS.

Related Resources & Content

  1. MDSpire News, Genetic Links to ALS Reversal Found, 2023 -- Genetic Links to ALS Reversal Found
  2. Acta Neuropathologica, Genetic, Clinical, and Neuropathological Insights into the Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Syndrome Associated with Chromosome 16p12.1–q12.2, 2013 -- Genetic, Clinical, and Neuropathological Insights into the Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Syndrome Associated with Chromosome 16p12.1–q12.2
  3. Acta Neuropathologica, APOE ε4 influences the widespread TDP-43 pathological subtype in sporadic amyotrophic lateral sclerosis, 2026 -- APOE ε4 influences the widespread TDP-43 pathological subtype in sporadic amyotrophic lateral sclerosis
  4. Brain, Somatic Mosaic Variants Identified in the Motor Cortex of Individuals with Sporadic Amyotrophic Lateral Sclerosis, 2023 -- Somatic Mosaic Variants Identified in the Motor Cortex of Individuals with Sporadic Amyotrophic Lateral Sclerosis
  5. Journal of Neurology, Gold Coast criteria for ALS diagnosis: individual participant data meta-analysis, 2026 -- Gold Coast criteria for ALS diagnosis: individual participant data meta-analysis
  6. European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis, 2024 -- EAN guideline on the management of amyotrophic lateral sclerosis
  7. PMC, Evidence‐based consensus guidelines for ALS genetic testing and counseling, 2023 -- Evidence‐based consensus guidelines for ALS genetic testing and counseling
  8. Gold Coast criteria for ALS diagnosis: individual participant data meta-analysis | Journal of Neurology | Springer Nature Link
  9. European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD)
  10. Evidence‐based consensus guidelines for ALS genetic testing and counseling - PMC

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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