{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T17:11:52Z","timestamp":1762189912355,"version":"build-2065373602"},"reference-count":14,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer's Disease Reports"],"published-print":{"date-parts":[[2025,1]]},"abstract":"\n A middle-aged female with family history of early-onset dementia presented with progressive amnesia, behavioral dysregulation, and myoclonus. Workup revealed pathogenic\n PSEN1<\/jats:italic>\n variant and intermediate\n HTT<\/jats:italic>\n allele (30 CAG repeats). This case illustrates that motor symptoms should not be neglected in early-onset familial Alzheimer\u2019s disease (EOFAD). Moreover, hyperkinetic phenomenology does not reliably differentiate EOFAD and Huntington\u2019s disease (HD) due to the possibility of co-occurring mutations. Patients undergoing EOFAD evaluation should be screened for HD as well. Finally, this first case of presenilin mutation and abnormal huntingtin in the same patient suggests that EOFAD and HD can genetically co-occur.\n <\/jats:p>","DOI":"10.1177\/25424823251385559","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T16:51:52Z","timestamp":1762188712000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Hyperkinesia and early-onset dementia in a female with co-occurring\n PSEN1<\/i>\n and\n HTT<\/i>\n mutations: A case report"],"prefix":"10.1177","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6355-7277","authenticated-orcid":false,"given":"Sean","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Neurology, College of Medicine, University of Arizona, Tucson, Tuscson, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firas","family":"Kaddouh","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Medicine, University of Arizona, Tucson, Tuscson, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,11,3]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-121255"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(16)30193-4"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/gps.5913"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6481-y"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1586\/14737175.2015.1058160"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3516-14.2015"},{"key":"e_1_3_3_8_2","article-title":"The role of reactive oxygen species in the pathogenesis of Alzheimer's disease, Parkinson's disease, and Huntington's disease: a mini review","volume":"8590578","author":"Manoharan S","year":"2016","unstructured":"Manoharan S, Guillemin GJ, Abiramasundari RS, et al. The role of reactive oxygen species in the pathogenesis of Alzheimer's disease, Parkinson's disease, and Huntington's disease: a mini review. Oxid Med Cell Longev 2016; 2016: 8590578.","journal-title":"Oxid Med Cell Longev"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s007020050095"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-140111"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.2174\/1567205017666201203125622"},{"issue":"215","key":"e_1_3_3_12_2","article-title":"HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease","volume":"76","author":"Men\u00e9ndez-Gonz\u00e1lez M","year":"2019","unstructured":"Men\u00e9ndez-Gonz\u00e1lez M, Clarim\u00f3n J, Rosas-Allende I, et al. HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease. 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