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dc.contributor.authorDhanapalaratnam, Roshan
dc.contributor.authorBeran, Roy
dc.contributor.authorBuckland, Michael
dc.contributor.authorCappelen-Smith, Cecilia
dc.date.accessioned2020-04-07T05:56:52Z
dc.date.available2020-04-07T05:56:52Z
dc.date.issued2019
dc.identifier.issn0028-3878
dc.identifier.urihttp://hdl.handle.net/10072/393022
dc.description.abstractIntroduction Sporadic Creudzfeldt-Jakob disease (sCJD) is a rare disease caused by prion proteins and usually presents in the 7th decade of life. sCJD classically presents with a rapidly progressive dementing illness, associated myoclonus and a median time to death of 6-months. Less commonly younger patients are described with a neuropsychiatric presentation and a prolonged disease course. Background: N/A Methods We report two young sCJD patients with neuropsychiatric presentations and slow disease progression admitted to Liverpool Hospital, Sydney (2016–17). Case 1: A 48-year-old Chinese man presented with a 12-month history of depressive symptoms and insomnia. Over the next 5-months he developed progressive cognitive impairment, disinhibited behaviour, aggression, paranoia and ataxia of gait. Serial electroencephalography and MRI brain scans, cerebrospinal fluid (CSF) testing for 14-3-3 protein and PRNP gene testing were negative or non-contributory. He progressively became mute, bedbound and died at 24-months from symptom onset. Diagnosis was only confirmed with a limited brain autopsy at post-mortem which revealed severe microvacuolar change, gliosis, neuronal loss and status spongiosus. Anti-prion antibody 12F10 staining showed a diffuse fine synaptic pattern in the frontal cortex and striatum consistent with sCJD. Case 2: A 42-year-old Afghani man presented with a 36-month history of emotional lability and progressive social withdrawal followed by auditory and visual hallucinations, cognitive impairment and gait ataxia. Screening for vasculitis, infective (including HIV/syphilis) and autoimmune encephalopathies were negative. Electroencephalography demonstrated non-specific slowing, without characteristic periodic sharp-wave complexes. MRI brain was initially normal but progress imaging showed bilateral cortical ribboning, caudate nucleus T2-hyperintensity and associated diffusion restriction consistent with sCJD. CSF 14-3-3 protein analysis was positive. The patient died 38-months from symptom onset. Post-mortem examination was not performed. Conclusions: sCJD in younger patients may present as a slowly progressive neuropsychiatric disorder and ante-mortem investigations may remain negative. Post-mortem remains the gold standard for CJD diagnosis.
dc.languageEnglish
dc.publisherLippincott Williams & Wilkins
dc.publisher.urihttps://n.neurology.org/content/92/15_Supplement/P5.7-009.abstract
dc.relation.ispartofconferencename71st Annual Meeting of the American-Academy-of-Neurology (AAN)
dc.relation.ispartofconferencetitleNeurology
dc.relation.ispartofdatefrom2019-05-04
dc.relation.ispartofdateto2019-05-10
dc.relation.ispartoflocationPhiladelphia, PA, USA
dc.relation.ispartofissue15 Supplement
dc.relation.ispartofvolume92
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchNeurosciences
dc.subject.fieldofresearchCognitive and computational psychology
dc.subject.fieldofresearchcode3202
dc.subject.fieldofresearchcode3209
dc.subject.fieldofresearchcode5204
dc.subject.keywordsScience & Technology
dc.subject.keywordsLife Sciences & Biomedicine
dc.subject.keywordsClinical Neurology
dc.subject.keywordsNeurosciences & Neurology
dc.titleYoung-onset Creutzfeldt-Jakob disease with neuropsychiatric presentation and prolonged disease course
dc.typeConference output
dc.type.descriptionE3 - Conferences (Extract Paper)
dcterms.bibliographicCitationDhanapalaratnam, R; Beran, R; Buckland, M; Cappelen-Smith, C, Young-onset Creutzfeldt-Jakob disease with neuropsychiatric presentation and prolonged disease course, Neurology, 2019, 92 (15)
dc.date.updated2020-04-07T05:55:38Z
gro.hasfulltextNo Full Text
gro.griffith.authorBeran, Roy G.


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