{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:42:25Z","timestamp":1786650145263,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Creutzfeldt\u2013Jakob disease (CJD) belongs to a group of prion disease that is caused by abnormally folded proteins and is clinically characterized by rapidly progressive cognitive decline, gait abnormalities, and myoclonus. Familial CJD is very rare and is described only in few families around the world. We report a case with rapidly progressive cognitive decline, ataxia, and myoclonus, with a history of several members of his family developing similar symptoms and succumbing to it. Clinical presentation and neuroimaging were suggestive of CJD. On genetic analysis, our index case and two of his family members (younger brother and younger son) were found to have D178N mutation in PRNP gene. The polymorphism of the 129\n                      <jats:sup>th<\/jats:sup>\n                      amino acid was V\/V. We report the first kindred familial CJD from South-East Asia with genetically proven D178N-129V haplotype.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_441_18","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T06:02:49Z","timestamp":1692597769000},"page":"225-227","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":9,"title":["Familial Creutzfeldt\u2013Jakob Disease"],"prefix":"10.4103","volume":"22","author":[{"given":"Nishit","family":"Sawal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamalesh","family":"Chakravarty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inder","family":"Puri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinay","family":"Goyal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Garg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Xiaoping","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garima","family":"Shukla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-22-20260109","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1093\/bmb\/66.1.213","article-title":"Sporadic and familial CJD: Classification and characterisation","volume":"66","author":"Gambetti","year":"2003","journal-title":"Br Med Bull"},{"key":"R2-22-20260109","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/0022-510X(79)90171-0","article-title":"Familial Creutzfeldt-Jakob disease","volume":"42","author":"Haltia","year":"1979","journal-title":"J Neurol Sci"},{"key":"R3-22-20260109","first-page":"165","article-title":"Familial Creutzfeldt-Jakob disease: A neuropsychological case study","volume":"15","author":"Gass","year":"2000","journal-title":"Arch Clin Neuropsychol"},{"key":"R4-22-20260109","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1007\/s00439-005-0020-1","article-title":"Genetic prion disease: The EUROCJD experience","volume":"118","author":"Kov\u00e1cs","year":"2005","journal-title":"Hum Genet"},{"key":"R5-22-20260109","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/BF00294264","article-title":"Codon 178 mutation of the human prion protein gene in a German family (Backer family): Sequencing data from 72-year-old celloidin-embedded brain tissue","volume":"89","author":"Kretzschmar","year":"1995","journal-title":"Acta Neuropathol"},{"key":"R6-22-20260109","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/0140-6736(91)91198-4","article-title":"New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred","volume":"337","author":"Goldfarb","year":"1991","journal-title":"Lancet"},{"key":"R7-22-20260109","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ana.410310309","article-title":"Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation","volume":"31","author":"Brown","year":"1992","journal-title":"Ann Neurol"},{"key":"R8-22-20260109","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1212\/WNL.49.2.552","article-title":"The D178N (cis-129M) \u201cfatal familial insomnia\u201d mutation associated with diverse clinicopathologic phenotypes in an Australian kindred","volume":"49","author":"McLean","year":"1997","journal-title":"Neurology"},{"key":"R10-22-20260109","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1126\/science.1439789","article-title":"Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined by a DNA polymorphism","volume":"258","author":"Goldfarb","year":"1992","journal-title":"Science"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/02223306-201922020-00022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:04:24Z","timestamp":1786647864000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/02223306-201922020-00022"}},"subtitle":["The First Reported Kindred from South-East Asia"],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_441_18","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]}}}