Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis
Dols Icardo, Oriol (Institut de Recerca Sant Pau)
Carbayo Viejo, Álvaro (Universitat Autònoma de Barcelona. Departament de Medicina)
Jericó-Pascual, Ivonne (Hospital Universitario de Navarra)
Blasco-Martínez, Olga (Hospital San Pedro (Logroño, La Rioja))
Álvarez-Sánchez, Esther (Institut de Recerca Sant Pau)
López Pérez, Maria Angeles (Hospital San Pedro (Logroño, La Rioja))
Bernal, Sara (Institut de Recerca Sant Pau)
Rodriguez Santiago, Benjamin (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Cusco, Ivon (Institut de Recerca Sant Pau)
Turon-Sans, Janina (Institut de Recerca Sant Pau)
Cabezas-Torres, Manuel (Institut de Recerca Sant Pau)
Caballero-Ávila, Marta (Institut de Recerca Sant Pau)
Vesperinas-Castro, Ana (Institut de Recerca Sant Pau)
Llansó, Laura (Institut de Recerca Sant Pau)
Pagola-Lorz, Maria Inmaculada (Hospital Universitario de Navarra)
Torné, Laura (Hospital Universitario de Navarra)
Valle-Tamayo, Natalia (Institut de Recerca Sant Pau)
Muñoz, Laia (Institut de Recerca Sant Pau)
Rubio Guerra, Sara (Institut de Recerca Sant Pau)
Illán-Gala, Ignacio (Institut de Recerca Sant Pau)
Cortés-Vicente, Elena (Universitat Autònoma de Barcelona. Departament de Medicina)
Gelpi, Ellen (Medical University of Vienna)
Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona. Departament de Medicina)

Date:	2024
Abstract:	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.
Grants:	Instituto de Salud Carlos III PI19/01543 Instituto de Salud Carlos III PI23/00845 Instituto de Salud Carlos III PI18/00326 Instituto de Salud Carlos III PI21/01395 Instituto de Salud Carlos III PI21/00791
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	Journal of Neurology, Neurosurgery, and Psychiatry, (july 2024) , ISSN 1468-330X

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

8 p, 1.1 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles