Literature DB >> 23628468

Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism.

B M Aji1, G Medley, K O'Driscoll, A J Larner, S H Alusi.   

Abstract

A patient with a mood disorder and a Parkinsonian syndrome with frontal cognitive impairment thought to resemble progressive supranuclear palsy defied precise diagnosis until the development of respiratory compromise, prompting consideration of the diagnosis of Perry syndrome. A mutation in the dynactin 1 gene confirmed the diagnosis. Few examples of this disorder, characterised by depression, Parkinsonism, and respiratory insufficiency, have been reported but it may be more commonly recognised with the availability of genetic testing. Perry syndrome needs to be considered in the differential diagnosis of Parkinsonism, particularly in autosomal dominant pedigrees. Diagnosis early in the disease course may facilitate monitoring and prompt intervention to avoid potentially fatal respiratory failure.
Copyright © 2013 Elsevier B.V. All rights reserved.

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Year:  2013        PMID: 23628468     DOI: 10.1016/j.jns.2013.04.008

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  7 in total

1.  Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency.

Authors:  Felipe Pretelt; Camilo Castañeda Cardona; Pawel Tacik; Owen A Ross; Zbigniew K Wszolek
Journal:  J Neurol       Date:  2014-02-06       Impact factor: 4.849

Review 2.  DCTN1-related neurodegeneration: Perry syndrome and beyond.

Authors:  Takuya Konno; Owen A Ross; Hélio A G Teive; Jarosław Sławek; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2017-06-12       Impact factor: 4.891

3.  Three families with Perry syndrome from distinct parts of the world.

Authors:  Pawel Tacik; Fabienne C Fiesel; Shinsuke Fujioka; Owen A Ross; Felipe Pretelt; Camilo Castañeda Cardona; Alexa Kidd; Michael Hlavac; Anthony Raizis; Michael S Okun; Sharleen Traynor; Audrey J Strongosky; Wolfdieter Springer; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-05-13       Impact factor: 4.891

Review 4.  Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Authors:  Una-Marie Sheerin; Henry Houlden; Nicholas W Wood
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

5.  Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice.

Authors:  Emily M Rocha; Gaynor A Smith; Eric Park; Hongmei Cao; Anne-Renee Graham; Eilish Brown; Jesse R McLean; Melissa A Hayes; Jonathan Beagan; Sarah C Izen; Eduardo Perez-Torres; Penelope J Hallett; Ole Isacson
Journal:  Antioxid Redox Signal       Date:  2015-07-29       Impact factor: 8.401

6.  Establishing diagnostic criteria for Perry syndrome.

Authors:  Takayasu Mishima; Shinsuke Fujioka; Hiroyuki Tomiyama; Ichiro Yabe; Ryoichi Kurisaki; Naoki Fujii; Ryuji Neshige; Owen A Ross; Matthew J Farrer; Dennis W Dickson; Zbigniew K Wszolek; Nobutaka Hattori; Yoshio Tsuboi
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-10-31       Impact factor: 10.154

Review 7.  Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Authors:  Jarosław Dulski; Catalina Cerquera-Cleves; Lukasz Milanowski; Alexa Kidd; Emilia J Sitek; Audrey Strongosky; Ana María Vanegas Monroy; Dennis W Dickson; Owen A Ross; Jolanta Pentela-Nowicka; Jarosław Sławek; Zbigniew K Wszolek
Journal:  Eur J Neurol       Date:  2021-08-26       Impact factor: 6.288

  7 in total

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