{"doi":"10.1002/ajmg.c.31865","title":"Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation <scp><i>PSEN1</i></scp> c.<scp>1292C</scp>&gt;A and phenotypic profile of patients","abstract":"Mutations in three genes (APP, PSEN1, and PSEN2) are the main cause of the autosomal dominant early-onset Alzheimer's disease (AD-EOAD). In PSEN1, the A431E (c.1292C>A, rs63750083) mutation is suspected to have exerted a founder effect in the State of Jalisco, Mexico. In Guadalajara, Jalisco, Mexico, this mutation was found in 46 index cases evaluated for AD-EOAD. In our genealogical analysis, 301 affected relatives of the mutation carriers were identified, 195 of whom were already deceased at the time of interview. Moreover, 560 descendants had a 50% risk of carrying the mutation, and 348 were potentially at risk. A systematic phenotyping was performed in 39 patients. The mean onset age was 42.5 ± 3.9 years, and no significant difference in onset age was observed between the male and female patients. Furthermore, a substantial clinical heterogeneity and high frequencies of spastic paraparesis, language disorders, and neuropsychiatric symptoms were observed. To our knowledge, the investigated families represent the second biggest population carrying a PSEN1 mutation in Latin America, offering a unique opportunity to study the genetic basis of Alzheimer's disease. Addressing AD-EOAD warrants an integral approach involving a deep understanding of its clinical behavior, as well as counseling protocols and prevention studies.","journal":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","year":2020,"id":102780,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":26,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9579,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":501346,"name":"Martha Patricia Gallegos‐Arreola","orcid":"0000-0003-4539-1693","position":1,"is_corresponding":false},{"id":501347,"name":"María Teresa Magaña‐Torres","orcid":"0000-0002-9843-0644","position":2,"is_corresponding":false},{"id":501348,"name":"Francisco J. Perea","orcid":"0000-0003-4227-4539","position":3,"is_corresponding":false},{"id":281099,"name":"John M. Ringman","orcid":"0000-0001-5429-0777","position":4,"is_corresponding":false},{"id":501349,"name":"Luis E. Figuera","orcid":"0000-0002-6096-4579","position":5,"is_corresponding":false},{"id":501345,"name":"Sofía Dumois‐Petersen","orcid":"0009-0003-5858-8978","position":0,"is_corresponding":true}],"reference_count":25,"raw_metadata":null,"created_at":"2026-07-18T22:41:53.173268Z","pmid":"33274538","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}