{"title":"挑战界限：c9orf72突变表现为阿尔茨海默病。","authors":"Federico Garrou, Fabiola De Marchi, Lucia Corrado, Gian Mauro Sacchetti, Sandra D'alfonso, Silvia Daniela Morbelli, Daniela Perani, Letizia Mazzini, Giacomo Tondo","doi":"10.1080/21678421.2025.2541761","DOIUrl":null,"url":null,"abstract":"<p><p>C9orf72 hexanucleotide repeat expansion is a major cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD), while its link with Alzheimer's disease (AD) is still unclear. We describe the case of a 53-year-old man with progressive memory and language deficits, mood disturbances, and a positive family history for ALS-FTD. Cerebrospinal fluid showed amyloid positivity, confirmed by amyloid-PET, with normal tau levels; [<sup>18</sup>F]FDG-PET revealed an AD-like temporoparietal hypometabolism. Genetic testing detected a pathogenic C9orf72 expansion, also present in his mother. This case suggests phenotypic heterogeneity of C9orf72-related disorders and a possible interplay with amyloid pathology.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"1-4"},"PeriodicalIF":2.8000,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Challenging the boundaries: c9orf72 mutation presenting as Alzheimer's disease.\",\"authors\":\"Federico Garrou, Fabiola De Marchi, Lucia Corrado, Gian Mauro Sacchetti, Sandra D'alfonso, Silvia Daniela Morbelli, Daniela Perani, Letizia Mazzini, Giacomo Tondo\",\"doi\":\"10.1080/21678421.2025.2541761\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>C9orf72 hexanucleotide repeat expansion is a major cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD), while its link with Alzheimer's disease (AD) is still unclear. We describe the case of a 53-year-old man with progressive memory and language deficits, mood disturbances, and a positive family history for ALS-FTD. Cerebrospinal fluid showed amyloid positivity, confirmed by amyloid-PET, with normal tau levels; [<sup>18</sup>F]FDG-PET revealed an AD-like temporoparietal hypometabolism. Genetic testing detected a pathogenic C9orf72 expansion, also present in his mother. This case suggests phenotypic heterogeneity of C9orf72-related disorders and a possible interplay with amyloid pathology.</p>\",\"PeriodicalId\":72184,\"journal\":{\"name\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"volume\":\" \",\"pages\":\"1-4\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-08-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/21678421.2025.2541761\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyotrophic lateral sclerosis & frontotemporal degeneration","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/21678421.2025.2541761","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Challenging the boundaries: c9orf72 mutation presenting as Alzheimer's disease.
C9orf72 hexanucleotide repeat expansion is a major cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD), while its link with Alzheimer's disease (AD) is still unclear. We describe the case of a 53-year-old man with progressive memory and language deficits, mood disturbances, and a positive family history for ALS-FTD. Cerebrospinal fluid showed amyloid positivity, confirmed by amyloid-PET, with normal tau levels; [18F]FDG-PET revealed an AD-like temporoparietal hypometabolism. Genetic testing detected a pathogenic C9orf72 expansion, also present in his mother. This case suggests phenotypic heterogeneity of C9orf72-related disorders and a possible interplay with amyloid pathology.
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