{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T13:11:32Z","timestamp":1777381892557,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T00:00:00Z","timestamp":1254355200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Alzheimers Dis Other Demen"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:p>We describe the phenotype of a Bulgarian early-onset Alzheimer\u2019s disease (EOAD) family with 3 affected patients in 3 generations. In the proband, a novel L381V mutation in the presenilin1 (PSEN1) gene was identified. In this patient, the first symptoms were noticed at the age of 32 years and she died at the age of 37 years. The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimer\u2019s disease patients.<\/jats:p>","DOI":"10.1177\/1533317509341464","type":"journal-article","created":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T22:02:36Z","timestamp":1254434556000},"page":"404-407","source":"Crossref","is-referenced-by-count":13,"title":["Novel PSEN1 Mutation in a Bulgarian Patient With Very Early-Onset Alzheimer\u2019s Disease, Spastic Paraparesis, and Extrapyramidal Signs"],"prefix":"10.1177","volume":"24","author":[{"given":"Latchezar","family":"Dintchov Traykov","sequence":"first","affiliation":[{"name":"Department of Neurology, Medical University, Sofia, Bulgaria,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shima","family":"Mehrabian","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University, Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marleen","family":"Van den Broeck","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Center, Medical University, Sofia, Bulgaria, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium, Department of Neurology, Medical University, Sofia, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Radoslavova Raycheva","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Cruts","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albena","family":"Kirilova Jordanova","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria, Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Van Broeckhoven","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,10,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1097\/WNN.0b013e318145a8c8"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.11.2045"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.1.43"},{"issue":"2","key":"atypb8","first-page":"51","volume":"8","author":"Mehrabian S.","year":"2008","journal-title":"Bulgarian Neurology"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-191306000-00001"},{"issue":"5","key":"atypb10","first-page":"249","volume":"102","author":"Van Bogaert L.","year":"1940","journal-title":"Monatsschrift Psychiatr Neurol"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199704140-00043"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)65722-7"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(01)02254-6"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-002-0596-7"}],"container-title":["American Journal of Alzheimer's Disease &amp; 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