Literature DB >> 31041129

Variably protease-sensitive prionopathy: A differential diagnostic consideration for dementia.

Stella H Kim1, Melissa M Yu1, Adriana M Strutt1.   

Abstract

PURPOSE OF REVIEW: Prion diseases are rare neurodegenerative diseases that are caused by abnormal pathogenic agents and can affect both humans and animals. These diseases are categorized as sporadic, inherited, or acquired by infection. Clinical manifestations include psychiatric symptoms, cognitive impairment, and parkinsonism, which are similar to those of other prion diseases and frontotemporal dementia variants. RECENT
FINDINGS: More recently, scientists discovered a new sporadic prion disease called variably protease-sensitive prionopathy.
SUMMARY: The following case discusses a patient presenting with sudden onset and rapid decline in cognitive, neurobehavioral, and motor functioning and his clinical journey including treatment interventions and diagnostic confirmation.

Entities:  

Year:  2019        PMID: 31041129      PMCID: PMC6461425          DOI: 10.1212/CPJ.0000000000000612

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


  17 in total

1.  Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration.

Authors:  Z K Wszolek; R H Kardon; E C Wolters; R F Pfeiffer
Journal:  Mov Disord       Date:  2001-07       Impact factor: 10.338

2.  Variably Protease-sensitive Prionopathy in an Apparent Cognitively Normal 93-Year-Old.

Authors:  Nupur Ghoshal; Arie Perry; Daniel McKeel; Robert E Schmidt; Deborah Carter; Joanne Norton; Wen-Quan Zou; Xiangzhu Xiao; Gianfranco Puoti; Silvio Notari; Pierluigi Gambetti; John C Morris; Nigel J Cairns
Journal:  Alzheimer Dis Assoc Disord       Date:  2015 Apr-Jun       Impact factor: 2.703

Review 3.  Sporadic human prion diseases: molecular insights and diagnosis.

Authors:  Gianfranco Puoti; Alberto Bizzi; Gianluigi Forloni; Jiri G Safar; Fabrizio Tagliavini; Pierluigi Gambetti
Journal:  Lancet Neurol       Date:  2012-07       Impact factor: 44.182

4.  Variably protease-sensitive prionopathy: a novel disease of the prion protein.

Authors:  Pierluigi Gambetti; Gianfranco Puoti; Wen-Quan Zou
Journal:  J Mol Neurosci       Date:  2011-05-17       Impact factor: 3.444

Review 5.  Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future.

Authors:  Piero Parchi; Rosaria Strammiello; Armin Giese; Hans Kretzschmar
Journal:  Acta Neuropathol       Date:  2010-11-24       Impact factor: 17.088

6.  Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.

Authors:  Wen-Quan Zou; Gianfranco Puoti; Xiangzhu Xiao; Jue Yuan; Liuting Qing; Ignazio Cali; Miyuki Shimoji; Jan P M Langeveld; Rudy Castellani; Silvio Notari; Barbara Crain; Robert E Schmidt; Michael Geschwind; Stephen J Dearmond; Nigel J Cairns; Dennis Dickson; Lawrence Honig; Juan Maria Torres; James Mastrianni; Sabina Capellari; Giorgio Giaccone; Ermias D Belay; Lawrence B Schonberger; Mark Cohen; George Perry; Qingzhong Kong; Piero Parchi; Fabrizio Tagliavini; Pierluigi Gambetti
Journal:  Ann Neurol       Date:  2010-08       Impact factor: 10.422

7.  A novel human disease with abnormal prion protein sensitive to protease.

Authors:  Pierluigi Gambetti; Zhiqian Dong; Jue Yuan; Xiangzhu Xiao; Mengjie Zheng; Amer Alshekhlee; Rudy Castellani; Mark Cohen; Marcelo A Barria; D Gonzalez-Romero; Ermias D Belay; Lawrence B Schonberger; Karen Marder; Carrie Harris; James R Burke; Thomas Montine; Thomas Wisniewski; Dennis W Dickson; Claudio Soto; Christine M Hulette; James A Mastrianni; Qingzhong Kong; Wen-Quan Zou
Journal:  Ann Neurol       Date:  2008-06       Impact factor: 10.422

8.  Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Authors:  Matt Baker; Ian R Mackenzie; Stuart M Pickering-Brown; Jennifer Gass; Rosa Rademakers; Caroline Lindholm; Julie Snowden; Jennifer Adamson; A Dessa Sadovnick; Sara Rollinson; Ashley Cannon; Emily Dwosh; David Neary; Stacey Melquist; Anna Richardson; Dennis Dickson; Zdenek Berger; Jason Eriksen; Todd Robinson; Cynthia Zehr; Chad A Dickey; Richard Crook; Eileen McGowan; David Mann; Bradley Boeve; Howard Feldman; Mike Hutton
Journal:  Nature       Date:  2006-07-16       Impact factor: 49.962

9.  Transmission characteristics of variably protease-sensitive prionopathy.

Authors:  Silvio Notari; Xiangzhu Xiao; Juan Carlos Espinosa; Yvonne Cohen; Liuting Qing; Patricia Aguilar-Calvo; Diane Kofskey; Ignazio Cali; Laura Cracco; Qingzhong Kong; Juan Maria Torres; Wenquan Zou; Pierluigi Gambetti
Journal:  Emerg Infect Dis       Date:  2014-12       Impact factor: 6.883

10.  Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties.

Authors:  Abigail B Diack; Diane L Ritchie; Alexander H Peden; Deborah Brown; Aileen Boyle; Laura Morabito; David Maclennan; Paul Burgoyne; Casper Jansen; Richard S Knight; Pedro Piccardo; James W Ironside; Jean C Manson
Journal:  Emerg Infect Dis       Date:  2014-12       Impact factor: 6.883

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  2 in total

Review 1.  Clinical Use of Improved Diagnostic Testing for Detection of Prion Disease.

Authors:  Mark P Figgie; Brian S Appleby
Journal:  Viruses       Date:  2021-04-28       Impact factor: 5.048

2.  Variably Protease-sensitive Prionopathy in a Middle-aged Man With Rapidly Progressive Dementia.

Authors:  Juebin Huang; Mark Cohen; Jiri Safar; Alexander P Auchus
Journal:  Cogn Behav Neurol       Date:  2021-09-02       Impact factor: 1.590

  2 in total

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