{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:28:33Z","timestamp":1761596913954},"reference-count":54,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3753,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,2,27]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alzheimer's disease (AD) is a progressive, degenerative neurological disorder of the central nervous system. AD is the fourth leading cause of death in elderly persons 65 years or older in Western industrialized societies. The etiology of AD is unknown, but clinical, pathological, epidemiological, and molecular investigations suggest it is etiologically heterogeneous. Mutations in the amyloid protein are rare and segregate with the disease in a few early\u2010onset familial AD (FAD) families. Similarities between AD and the unconventional viral (UCV) diseases, and between the amyloid and prion proteins, implicate the human prion protein gene (PRNP) as another candidate gene. Single strand conformation polymorphism (SSCP) analysis was used to screen for mutations at this locus in 82 AD patients from 54 families (30 FAD), vs. 39 age\u2010matched controls. A 24\u2010bp deletion around codon 68 that codes for one of five Gly\u2010Pro rich octarepeats was identified in two affected sibs and one offspring of one late\u2010onset FAD family. Two other affected sibs, three unaffected sibs, and three offspring from this family, in addition to one sporadic AD patient and three age\u2010matched controls, were heterozygous for another octarepeat deletion located around codon 82. Two of the four affected sibs had features of PD, including one who was autopsy\u2010verified AD and PD. Although these deletions were found infrequently in other AD patients and controls, they appear to be a rare polymorphism that is segregating in this FAD family. It does not appear that mutations at the PRNP locus are frequently associated with AD in this population. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320600104","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:15:43Z","timestamp":1118513743000},"page":"12-18","source":"Crossref","is-referenced-by-count":13,"title":["SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family"],"prefix":"10.1002","volume":"60","author":[{"given":"R. T.","family":"Perry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. C. P.","family":"Go","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. E.","family":"Harrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. T.","family":"Acton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687003"},{"key":"e_1_2_1_3_1","first-page":"51","article-title":"Features of Creutzfeldt\u2010Jakob disease in brains of patients with familial disease of Alzheimer type","volume":"7","author":"Ball MJ","year":"1980","journal-title":"Can J Neurol Sci"},{"key":"e_1_2_1_4_1","first-page":"229","volume-title":"Slow Transmissible Diseases of the Nervous System","author":"Bernoulli CC","year":"1979"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230106"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/3.9.2303"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.2.207"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)90256-0"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91518-F"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)93128-V"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90196-L"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3956(75)90026-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.22.10940"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/209794a0"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(90)91304-Y"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.161.3839.388"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310308"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490510088009"},{"key":"e_1_2_1_19_1","first-page":"372","article-title":"Alzheimer's disease","volume":"39","author":"Hardy JA","year":"1988","journal-title":"Br J Hosp Med"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1.1.34"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.12.1820"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/338342a0"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199104183241604"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/325733a0"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060100083029"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1986.5.315"},{"key":"e_1_2_1_27_1","first-page":"1115","article-title":"Single\u2010strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria","volume":"48","author":"Labrune P","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.22.6745"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002093-198903010-00009"},{"key":"e_1_2_1_30_1","first-page":"117","article-title":"Potential involvement of retroviral elements in human dementias","volume":"135","author":"Manuelidis L","year":"1988","journal-title":"Ciba Found Symp"},{"key":"e_1_2_1_31_1","first-page":"24","article-title":"Neuropathology of unconventional viral infections: molecular pathology of spongiform change and amyloid plaque deposition","volume":"135","author":"Masters CL","year":"1988","journal-title":"Ciba Found Symp"},{"key":"e_1_2_1_32_1","first-page":"137","article-title":"Creutzfeldt\u2010Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering","volume":"19","author":"Masters CL","year":"1979","journal-title":"Ann Neurol"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.559"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.535"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.7.939"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.7.910"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(85)90333-2"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90129-8"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91713-3"},{"key":"e_1_2_1_41_1","first-page":"1215","article-title":"Codon 129 changes in the prion protein gene in Caucasians","volume":"46","author":"Owen F","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(90)90038-F"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.5.541"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6801762"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.mi.43.100189.002021"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1675487"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00164a001"},{"key":"e_1_2_1_48_1","first-page":"320","article-title":"Genomic structure of the human prion protein gene","volume":"49","author":"Puckett C","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2999980"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2448875"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_52_1","first-page":"51","article-title":"The neurology of aging","volume":"22","author":"Terry RD","year":"1983","journal-title":"Contemp Neurol Ser"},{"key":"e_1_2_1_53_1","first-page":"280","article-title":"Identification of APC gene mutations in Italian Adenomatous Polyposis Coli patients by PCR\u2010SSCP analysis","volume":"52","author":"Varesco L","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_54_1","first-page":"871","article-title":"Identification of heterogeneous PrP gene deletions in controls by detection of allele\u2010specific heteroduplexes (DASH)","volume":"50","author":"Vnencak\u2010Jones CL","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.7.3191"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320600104","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320600104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T05:52:23Z","timestamp":1695880343000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320600104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,2,27]]},"references-count":54,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,2,27]]}},"alternative-id":["10.1002\/ajmg.1320600104"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320600104","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,2,27]]}}}