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The early age at onset of the disease (average, 36 years; range, 35\u201339 years), the rapid progression, and the early and prominent myoclonus, while they appear to be frequent findings in the chromosome 14\u2013encoded form of Alzheimer's disease, raised the clinical suspicion of prion disease. However, sequencing the prion gene\u2013coding region of 2 affected members of the pedigree failed to show any abnormality. Apart from the presence of modest cortical vacuolar change, the pathological features of our index patient appeared typical of Alzheimer's disease with abundant senile plaques immunoreactive with beta\u2010amyloid, but not with prion protein antibodies.<\/jats:p>","DOI":"10.1002\/ana.410360307","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:06:29Z","timestamp":1104595589000},"page":"362-367","source":"Crossref","is-referenced-by-count":65,"title":["Chromosome 14\u2013encoded Alzheimer's disease: Genetic and clinicopathological description"],"prefix":"10.1002","volume":"36","author":[{"given":"Matti","family":"Haltia","sequence":"first","affiliation":[]},{"given":"Matti","family":"Viitanen","sequence":"additional","affiliation":[]},{"given":"Raimo","family":"Sulkava","sequence":"additional","affiliation":[]},{"given":"Veli","family":"Ala\u2010Hurula","sequence":"additional","affiliation":[]},{"given":"Minna","family":"Poyhonen","sequence":"additional","affiliation":[]},{"given":"Lev","family":"Goldfarb","sequence":"additional","affiliation":[]},{"given":"Paul","family":"Brown","sequence":"additional","affiliation":[]},{"given":"Efrat","family":"Levy","sequence":"additional","affiliation":[]},{"given":"Henry","family":"Houlde","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Crook","sequence":"additional","affiliation":[]},{"given":"Alison","family":"Goate","sequence":"additional","affiliation":[]},{"given":"Robert","family":"Clark","sequence":"additional","affiliation":[]},{"given":"Kevin","family":"Korenblat","sequence":"additional","affiliation":[]},{"given":"Sunil","family":"Pandit","sequence":"additional","affiliation":[]},{"given":"Helen Donis","family":"Keller","sequence":"additional","affiliation":[]},{"given":"Lena","family":"Llius","sequence":"additional","affiliation":[]},{"given":"Li","family":"Liu","sequence":"additional","affiliation":[]},{"given":"Karin","family":"Axelman","sequence":"additional","affiliation":[]},{"given":"Lotta","family":"Forsell","sequence":"additional","affiliation":[]},{"given":"Bengt","family":"Winblad","sequence":"additional","affiliation":[]},{"given":"Lars","family":"Lannfelt","sequence":"additional","affiliation":[]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0197-4580(89)90082-1"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0792-233"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1411576"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1292-330"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1292-335"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1292-340"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-218"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1987.00520240007003"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520340051011"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(86)80241-8"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198602273140904"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294437"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91198-4"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_16_2","first-page":"315","volume":"5","author":"Kretzschmar H","year":"1986","journal-title":"The DNA sequence of the human prion protein gene"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3014653"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2111584"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/353844a0"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-345"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-218"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1925564"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1439770"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/359794a0"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91725-X"},{"key":"e_1_2_1_27_2","unstructured":"Schellenberg Tanzi Van Broeckhoven. 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