{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T12:58:26Z","timestamp":1777381106571,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2014,6,6]],"date-time":"2014-06-06T00:00:00Z","timestamp":1402012800000},"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":["Am J Alzheimers Dis Other Demen"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>Mutations in the gene for presenilin 1 ( PSEN-1) cause familial, early-onset Alzheimer\u2019s disease (EOAD). Diagnosis of EOAD is often a challenge because of the high frequency of atypical presentations. Clinical manifestation of EOAD may vary depending on underlying mutation; specific genetic mutations influence development of specific clinical phenotypes; however, intrafamilial phenotypic heterogeneity has also been noted in some pedigrees.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation:<\/jats:title>\n                    <jats:p>We report a case of a 36-year-old woman presenting with progressive behavioral disturbances, dementia, involuntary movements, pyramidal signs, epilepsy, and a family history of early-onset dementia accompanied by involuntary movements. On genetic testing, the mutation at codon 424 (Leu\u2192Arg) in PSEN-1 gene was identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Our case describes a new phenotype of a known mutation of PSEN-1 at codon 424.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1533317514536599","type":"journal-article","created":{"date-parts":[[2014,6,7]],"date-time":"2014-06-07T00:06:21Z","timestamp":1402099581000},"page":"732-734","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical Presentation of Early-Onset Alzheimer\u2019s Disease as a Result of Mutation in Exon 12 of the PSEN-1 Gene"],"prefix":"10.1177","volume":"29","author":[{"given":"Aleksandra","family":"Klimkowicz-Mrowiec","sequence":"first","affiliation":[{"name":"Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Bodzioch","sequence":"additional","affiliation":[{"name":"Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Szczudlik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Slowik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Jagiellonian University School of Medicine, Botaniczna, Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,6,6]]},"reference":[{"key":"bibr1-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3956(75)90026-6"},{"key":"bibr2-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1111\/j.1532-5415.1989.tb02233.x"},{"key":"bibr3-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0019-5"},{"key":"bibr4-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22117"},{"issue":"1","key":"bibr5-1533317514536599","first-page":"57","volume":"37","author":"Kowalska A","year":"1999","journal-title":"Folia Neuropathol"},{"key":"bibr6-1533317514536599","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2010-1292"},{"key":"bibr7-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2006.01.022"},{"key":"bibr8-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1177\/1533317508324272"},{"key":"bibr9-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291709005492"},{"key":"bibr10-1533317514536599","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-122182"},{"key":"bibr11-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-8-9"},{"key":"bibr12-1533317514536599","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000042088.22694.E3"}],"container-title":["American Journal of Alzheimer's Disease &amp; Other Dementias\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1533317514536599","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1533317514536599","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1533317514536599","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:19:58Z","timestamp":1777367998000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1533317514536599"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,6]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1177\/1533317514536599"],"URL":"https:\/\/doi.org\/10.1177\/1533317514536599","relation":{},"ISSN":["1533-3175","1938-2731"],"issn-type":[{"value":"1533-3175","type":"print"},{"value":"1938-2731","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,6]]}}}