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Magnetic resonance imaging scan of the brain was normal and a DAT SPECT scan showed reduced dopamine uptake in the basal ganglia. On further enquiry, a family history of a similar presentation in his first cousin was elicited and that cousin had tested positive for a mutation in the PRNP gene. Subsequently, he also tested positive for A117V mutation in the PRNP gene, confirming familial Creutzfeld Jakob disease. Familial Creutzfeld Jakob disease presenting with parkinsonism is rare in clinical practice, but it is something that neurologists and geriatricians running movement disorder clinics should be aware of, as this is a rapidly progressive and uniformly fatal condition with inheritance risks to family members.<\/jats:p>","DOI":"10.1177\/0036933017727966","type":"journal-article","created":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T05:35:15Z","timestamp":1512106515000},"page":"159-162","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Rare case of atypical parkinsonism: why family history is important"],"prefix":"10.1177","volume":"62","author":[{"given":"Naveed","family":"Malek","sequence":"first","affiliation":[{"name":"Consultant Neurologist, Department of Neurology, Ipswich Hospital NHS Trust, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravi","family":"Jampana","sequence":"additional","affiliation":[{"name":"Consultant Neuro-radiologist, Department of Neuro-radiology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald G","family":"Grosset","sequence":"additional","affiliation":[{"name":"Consultant Neurologist, Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,12,1]]},"reference":[{"key":"bibr1-0036933017727966","unstructured":"The Human Gene Mutation Database, www.hgmd.cf.ac.uk\/ac\/all.php (accessed 1 October 2016)."},{"key":"bibr2-0036933017727966","first-page":"162","volume":"14","author":"Cohen OS","year":"2012","journal-title":"Israel Med Assoc J"},{"key":"bibr3-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200507"},{"key":"bibr4-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.70.6.802"},{"key":"bibr5-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.10.1823"},{"key":"bibr6-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)92317-6"},{"key":"bibr7-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181cd7374"},{"key":"bibr8-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2008.0216"},{"key":"bibr9-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1002\/mds.24002"},{"key":"bibr10-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2005.10.004"},{"key":"bibr11-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.65.6.836"},{"key":"bibr12-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.47.2.134"},{"key":"bibr13-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.035154"},{"key":"bibr14-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6539-x"},{"key":"bibr15-0036933017727966","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.2008.01075.x"}],"container-title":["Scottish Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0036933017727966","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0036933017727966","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0036933017727966","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T10:18:22Z","timestamp":1777630702000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0036933017727966"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1177\/0036933017727966"],"URL":"https:\/\/doi.org\/10.1177\/0036933017727966","relation":{},"ISSN":["0036-9330","2045-6441"],"issn-type":[{"value":"0036-9330","type":"print"},{"value":"2045-6441","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11]]}}}