{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:53:50Z","timestamp":1740142430897,"version":"3.37.3"},"reference-count":35,"publisher":"FapUNIFESP (SciELO)","issue":"12","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"abstract":"<jats:p>ABSTRACT Alzheimer's disease (AD) has as its main characteristic the deterioration of cerebral functions. Its etiology is still complex and undefined despite the progress made in understanding its neurological, infectious, biochemical, genetic and cytogenetic mechanisms. Considering this, the aim of this study was to investigate the presence of chromosomal alterations in the peripheral blood lymphocytes, and to verify if there was a high frequency of these alterations in patients diagnosed with AD at the University Hospital Get\u00faLio Vargas Outpatient Clinic Ara\u00fajo Lima in Manaus, Amazonas, Brazil. Among the nine patients in the AD group, only one patient did not have metaphases with chromosomal alterations (2n = 46,XX), while eight patients with AD showed numerical chromosomal alterations, classified as X chromosome aneupLoidy (2n = 45,X) and double aneupLoidy (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 and 2n = 44,X,-X,-21). In the control group, no chromosomal changes were found in the karyotypes of these individuals. Therefore, the karyotypes of patients with AD undergo chromosomal alterations at different levels. These findings are being described for the first time in the population of Amazonas, and they highlight the importance of the inclusion of cytogenetic investigations in the routine management of patients with AD.<\/jats:p>","DOI":"10.1590\/0004-282x20190163","type":"journal-article","created":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T14:23:50Z","timestamp":1578666230000},"page":"855-859","source":"Crossref","is-referenced-by-count":1,"title":["Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil"],"prefix":"10.1590","volume":"77","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4308-0982","authenticated-orcid":false,"given":"Kledson Moraes","family":"Nunes","sequence":"first","affiliation":[{"name":"Universidade do Estado do Amazonas, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5394-7455","authenticated-orcid":false,"given":"Denise Corr\u00eaa","family":"Benzaquem","sequence":"additional","affiliation":[{"name":"Universidade do Estado do Amazonas, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8513-0749","authenticated-orcid":false,"given":"Natalia Dayane Moura","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Universidade do Estado do Amazonas, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7275-7542","authenticated-orcid":false,"given":"Tal\u00edsia Nascimento","family":"Vianez","sequence":"additional","affiliation":[{"name":"Universidade Federal do Amazonas, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8472-3171","authenticated-orcid":false,"given":"Ernanda Raquel de Queir\u00f3s Gon\u00e7alves de Sousa e","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Universidade Federal do Amazonas, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4801-698X","authenticated-orcid":false,"given":"Cleiton","family":"Fantin","sequence":"additional","affiliation":[{"name":"Universidade do Estado do Amazonas, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2019,12]]},"reference":[{"issue":"4","key":"ref1","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.cger.2018.06.006","article-title":"Alzheimer Disease","volume":"34","author":"Morley JE","year":"2018","journal-title":"Clin Geriatr Med"},{"issue":"3","key":"ref2","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.optom.2018.07.001","article-title":"Retinal glial changes in Alzheimer's disease: a review","volume":"12","author":"Fern\u00e1ndez-Albarral JA","year":"2019","journal-title":"J Optom"},{"issue":"1","key":"ref3","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/S1474-4422(12)70259-4","article-title":"Genetic insights in Alzheimer's disease","volume":"2","author":"Bettens K","year":"2013","journal-title":"Lancet Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.neurobiolaging.2018.08.019","article-title":"CSF pro-orexin and amyloid\u03b238 expression in Alzheimer's disease and frontotemporal dementia","volume":"72","author":"Heywood WE","year":"2018","journal-title":"Neurobiol Aging"},{"issue":"1","key":"ref5","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1590\/S0101-60832004000100004","article-title":"Altera\u00e7\u00f5es gen\u00e9ticas na doen\u00e7a de Alzheimer","volume":"31","author":"Fridman C","year":"2004","journal-title":"Rev Psiquiatr Clin (Santiago)"},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320030204","article-title":"Increased aneuploidy in Alzheimer disease","volume":"3","author":"Ward BE","year":"1979","journal-title":"Am J Med Genet"},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jmg.20.1.46","article-title":"Chromosome changes in Alzheimer's presenile dementia","volume":"20","author":"Buckton KE","year":"1983","journal-title":"J Med Genet"},{"issue":"1","key":"ref8","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.1320100110","article-title":"Cytogenetic studies of familial and sporadic Alzheimer disease","volume":"10","author":"White BJ","year":"1981","journal-title":"Am J Med Genet"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1755-8166-7-20","article-title":"X chromosome aneuploidy in the Alzheimer's disease brain","volume":"7","author":"Yurov YB","year":"2014","journal-title":"Mol Cytogenet"},{"issue":"5082","key":"ref10","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1126\/science.1411576","article-title":"Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14","volume":"258","author":"Schellenberg GD","year":"1992","journal-title":"Science"},{"issue":"5226","key":"ref11","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1126\/science.7638622","article-title":"Candidate gene for the chromosome 1 familial Alzheimer's disease locus","volume":"269","author":"Levy-Lahad E","year":"1995","journal-title":"Science"},{"issue":"1","key":"ref12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1385\/NMM:2:1:01","article-title":"The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease","volume":"2","author":"Rogaeva E","year":"2002","journal-title":"Neuromolecular Med"},{"issue":"3","key":"ref13","first-page":"189","article-title":"\u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein MF","year":"1975","journal-title":"J Psychiatr Res"},{"issue":"9","key":"ref14","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1111\/j.1532-5415.1992.tb01992.x","article-title":"The mini-mental state examination: a comprehensive review","volume":"40","author":"Tombaugh TN","year":"1992","journal-title":"J Am Geriatr Soc"},{"issue":"3","key":"ref15","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead PS","year":"1960","journal-title":"Exp Cell Res"},{"issue":"4","key":"ref16","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1111\/j.1095-8649.1990.tb05889.x","article-title":"Improved methods for working with fish chromosomes with a review of metaphase chromosome banding","volume":"37","author":"Gold JR","year":"1990","journal-title":"J Fish Biol"},{"issue":"1","key":"ref17","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s12035-012-8262-0","article-title":"Cell cycle activation and aneuploid neurons in Alzheimer's disease","volume":"46","author":"Arendt T","year":"2012","journal-title":"Mol Neurobiol"},{"issue":"2","key":"ref18","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.nbd.2009.01.003","article-title":"Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning","volume":"34","author":"lourov IY","year":"2009","journal-title":"Neurobiol Dis"},{"issue":"1-2","key":"ref19","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000315398","article-title":"Genomic landscape of the Alzheimer's disease brain: chromosome instability\u2014aneuploidy, but not tetraploidy\u2014mediates neurodegeneration","volume":"8","author":"lourov 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T","year":"2009","journal-title":"Environ Mol Mutagen"},{"issue":"3","key":"ref23","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/ajmg.1320480312","article-title":"Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities","volume":"48","author":"Bender BG","year":"1993","journal-title":"Am J Med Genet"},{"issue":"6","key":"ref24","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/j.mehy.2009.06.046","article-title":"The X-chromosome instability phenotype in Alzheimer's disease: a clinical sign of accelerating aging?","volume":"73","author":"Bajic VP","year":"2009","journal-title":"Med Hypotheses"},{"key":"ref25","first-page":"812","article-title":"Cytogenetic diagnosis and analysis of the clinical profile of individuals with non-down syndrome intellectual disability","volume":"5","author":"Fantin C","year":"2017","journal-title":"J Pharm Pharmacol"},{"issue":"4","key":"ref26","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.3233\/JAD-141674","article-title":"Skewed X-chromosome inactivation in women affected by Alzheimer's disease","volume":"43","author":"Bajic V","year":"2015","journal-title":"J Alzheimers Dis"},{"issue":"5","key":"ref27","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/j.exger.2004.01.012","article-title":"Analysis of premature centromere division (PCD) of the X chromosome in Alzheimer patients through the cell cycle","volume":"39","author":"Spremo-Potparevic B","year":"2004","journal-title":"Exp Gerontol"},{"issue":"12","key":"ref28","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/gerona\/glq148","article-title":"Premature centromere division of metaphase chromosomes in peripheral blood lymphocytes of Alzheimer's disease patients: relation to gender and age","volume":"65","author":"Zivkovic L","year":"2010","journal-title":"J Gerontol A Biol Sci Med 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