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)
Rodríguez-Santiago, Benjamín (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