MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy

dc.creatorPetrovic, IN
dc.creatorMartin-Bastida, A
dc.creatorMassey, L
dc.creatorLing, H
dc.creatorO'Sullivan, SS
dc.creatorWilliams, DR
dc.creatorHolton, JL
dc.creatorRevesz, T
dc.creatorIronside, JW
dc.creatorLees, AJ
dc.creatorSilveira-Moriyama, L
dc.date2013
dc.dateAPR
dc.date2014-07-30T14:02:29Z
dc.date2015-11-26T17:07:06Z
dc.date2014-07-30T14:02:29Z
dc.date2015-11-26T17:07:06Z
dc.date.accessioned2018-03-28T23:55:35Z
dc.date.available2018-03-28T23:55:35Z
dc.identifierJournal Of Neurology. Springer Heidelberg, v. 260, n. 4, n. 1031, n. 1036, 2013.
dc.identifier0340-5354
dc.identifierWOS:000317351900011
dc.identifier10.1007/s00415-012-6752-7
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57155
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57155
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1280028
dc.descriptionThe classical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) is rapid progressive dementia often associated with myoclonus and ataxia followed by death in less than a year from diagnosis. The few patients in the literature who presented with parkinsonism and who were suspected to have progressive supranuclear palsy (PSP) all ran a malignant course and most of them died within 3 years of diagnosis. We screened the Queen Square Brain Bank database and, among 213 patients with a clinical diagnosis of PSP, we found ten patients with 3 years or less disease duration, including one patient with CJD pathology. We report this patient and review other similar cases from the literature. Ten additional cases with similar presentation were identified in the literature. The mean disease duration was 24.2 months. The classical clinical, radiological and laboratory findings for sCJD were absent in the majority of these cases. Clinical presentation of these patients consists of: early falls, prominent dementia, early vertical supranuclear gaze palsy and symmetric akinetic syndrome. In the patients who were subtyped at post-mortem, all four represented the MM2 subtype of sCJD. A rapidly progressive course of PSP with early falls, cognitive impairments and vertical supranuclear gaze palsy should raise suspicion of underlying sCJD pathology regardless of absence of supportive findings on ancillary tests. This case and the literature support the notion that biochemical properties of the prion protein can influence the clinical presentation of sCJD.
dc.description260
dc.description4
dc.description1031
dc.description1036
dc.descriptionMinistry of Science
dc.descriptionRepublic of Serbia [175090]
dc.descriptionReta Lila Weston Trust for Medical Research
dc.descriptionReta Lila Weston fellowships
dc.descriptionPSP (Europe) Association
dc.descriptionRepublic of Serbia [175090]
dc.languageen
dc.publisherSpringer Heidelberg
dc.publisherHeidelberg
dc.publisherAlemanha
dc.relationJournal Of Neurology
dc.relationJ. Neurol.
dc.rightsfechado
dc.rightshttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.sourceWeb of Science
dc.subjectCreutzfeldt-Jakob disease
dc.subjectPrion
dc.subjectMM2
dc.subjectProgressive supranuclear palsy
dc.subjectNeuropathology
dc.subjectRichardson-olszewski Syndrome
dc.subjectMutation
dc.subjectDiagnosis
dc.titleMM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy
dc.typeArtículos de revistas


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