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

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 o...

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Detalles Bibliográficos
Autores: Dols Icardo, Oriol|||0000-0003-2656-8748, Carbayo Viejo, Álvaro|||0000-0001-9282-8603, Jericó-Pascual, Ivonne|||0000-0003-4262-6370, Blasco-Martínez, Olga, Álvarez-Sánchez, Esther|||0009-0002-8760-2153, López Pérez, Maria Angeles, Bernal, Sara|||0000-0003-4427-0574, Rodriguez Santiago, Benjamin|||0000-0003-1167-3852, Cusco, Ivon|||0000-0003-2104-9332, Turon-Sans, Janina|||0000-0002-8842-4646, Cabezas-Torres, Manuel|||0009-0009-4547-2152, Caballero-Ávila, Marta|||0000-0001-9850-8504, Vesperinas-Castro, Ana|||0000-0003-1919-9382, Llansó, Laura|||0000-0003-4950-7657, Pagola-Lorz, Maria Inmaculada|||0000-0002-5723-1374, Torné, Laura, Valle-Tamayo, Natalia|||0000-0001-9322-3710, Muñoz, Laia|||0000-0003-0578-3094, Rubio Guerra, Sara|||0000-0001-7652-8029, Illán-Gala, Ignacio|||0000-0002-5418-2052, Cortés-Vicente, Elena|||0000-0002-1428-1072, Gelpi, Ellen|||0000-0003-2948-4187, Rojas-Garcia, Ricard|||0000-0003-1411-5573
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:301525
Acceso en línea:https://ddd.uab.cat/record/301525
https://dx.doi.org/urn:doi:10.1136/jnnp-2024-333834
Access Level:acceso abierto
Descripción
Sumario: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 cases with negative genetic testing. Methods: We detected an increased incidence of both sporadic and, especially, familial ALS cases in a small region from Spain compared with available demographic and epidemiological data. We performed whole genome sequencing in a group of 12 patients with ALS (5 of them familial) from this unique area. We expanded the study to include affected family members and additional cases from a wider surrounding region. Results: We identified a shared missense mutation (c.1586C.

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