dc.contributor.author | Dhanapalaratnam, Roshan | |
dc.contributor.author | Beran, Roy | |
dc.contributor.author | Buckland, Michael | |
dc.contributor.author | Cappelen-Smith, Cecilia | |
dc.date.accessioned | 2020-04-07T05:56:52Z | |
dc.date.available | 2020-04-07T05:56:52Z | |
dc.date.issued | 2019 | |
dc.identifier.issn | 0028-3878 | |
dc.identifier.uri | http://hdl.handle.net/10072/393022 | |
dc.description.abstract | Introduction 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.language | English | |
dc.publisher | Lippincott Williams & Wilkins | |
dc.publisher.uri | https://n.neurology.org/content/92/15_Supplement/P5.7-009.abstract | |
dc.relation.ispartofconferencename | 71st Annual Meeting of the American-Academy-of-Neurology (AAN) | |
dc.relation.ispartofconferencetitle | Neurology | |
dc.relation.ispartofdatefrom | 2019-05-04 | |
dc.relation.ispartofdateto | 2019-05-10 | |
dc.relation.ispartoflocation | Philadelphia, PA, USA | |
dc.relation.ispartofissue | 15 Supplement | |
dc.relation.ispartofvolume | 92 | |
dc.subject.fieldofresearch | Clinical sciences | |
dc.subject.fieldofresearch | Neurosciences | |
dc.subject.fieldofresearch | Cognitive and computational psychology | |
dc.subject.fieldofresearchcode | 3202 | |
dc.subject.fieldofresearchcode | 3209 | |
dc.subject.fieldofresearchcode | 5204 | |
dc.subject.keywords | Science & Technology | |
dc.subject.keywords | Life Sciences & Biomedicine | |
dc.subject.keywords | Clinical Neurology | |
dc.subject.keywords | Neurosciences & Neurology | |
dc.title | Young-onset Creutzfeldt-Jakob disease with neuropsychiatric presentation and prolonged disease course | |
dc.type | Conference output | |
dc.type.description | E3 - Conferences (Extract Paper) | |
dcterms.bibliographicCitation | Dhanapalaratnam, 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.updated | 2020-04-07T05:55:38Z | |
gro.hasfulltext | No Full Text | |
gro.griffith.author | Beran, Roy G. | |