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00925njm 22002777a 4500 dc Alvarez-Mora, Maria Isabel author Blanco-Palmero, Victor Antonio author Quesada-Espinosa, Juan Francisco author Arteche-Lopez, Ana Rosa author Llamas-Velasco, Sara author Palma Milla, Carmen author Lezana Rosales, Jose Miguel author Gomez-Manjon, Irene author Hernández-Laín, Aurelio author Jimenez Almonacid, Justino author Gil-Fournier, Belén author Ramiro-León, Soraya author González-Sánchez, Marta author Herrero-San Martín, Alejandro Octavio author Pérez-Martínez, David Andrés author Gómez-Tortosa, Estrella author Carro, Eva author Bartolomé, Fernando author Gomez-Rodriguez, Maria Jose author Sanchez-Calvin, María Teresa author Villarejo-Galende, Alberto author Moreno-Garcia, Marta author 2022-04-11 In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. SORL1 variants were present in a high proportion of patients with candidate variants (15%, 3/20). We expand the clinical manifestations associated with the SORL1 gene by reporting detailed clinical and neuroimaging findings of six unrelated patients with AD and SORL1 mutations. We also present for the first time a patient with the homozygous truncating variant c.364C>T (p.R122*) in SORL1, who also had severe cerebral amyloid angiopathy. Furthermore, we report neuropathological findings and immunochemistry assays from one patient with the splicing variant c.4519+5G>A in the SORL1 gene, in which AD was confirmed by neuropathological examination. Our results highlight the heterogeneity of clinical presentation and familial dementia background of SORL1-associated AD and suggest that SORL1 might be contributing to AD development as a risk factor gene rather than as a major autosomal dominant gene. Int J Mol Sci. 2022 Apr 11;23(8):4230. 10.3390/ijms23084230 1422-0067 International journal of molecular sciences 35457051 http://hdl.handle.net/20.500.12105/15897 Alzheimer SORL1 SorLA immunohistochemistry Cerebral amyloid angiopathy Homozygous case Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings