Literature DB >> 20838735

2B or not to be--the 45-year saga of the Montreal Platelet Syndrome.

Man-Chiu Poon1, Margaret L Rand, Shannon C Jackson.   

Abstract

Over 45 years ago, Montreal Platelet Syndrome was first described as a rare inherited platelet disorder characterised by macrothrombocytopenia with spontaneous platelet clumping, abnormal platelet shape change upon stimulation and a defect in platelet calpain. This syndrome has now been reclassified as type 2B von Willebrand disease with the V1316M VWF mutation in the only kindred ever reported. We herein revisit the historical platelet characteristics originally described in Montreal Platelet Syndrome in light of the new diagnosis. This paper will review the 45-year saga of Montreal Platelet Syndrome, a story that highlights the value of revisiting a rare diagnosis to look for a more common explanation.

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Year:  2010        PMID: 20838735     DOI: 10.1160/TH10-01-0079

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN: 0340-6245            Impact factor:   5.249


  1 in total

1.  LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B.

Authors:  Alexandre Kauskot; Sonia Poirault-Chassac; Frédéric Adam; Vincent Muczynski; Gabriel Aymé; Caterina Casari; Jean-Claude Bordet; Christelle Soukaseum; Chantal Rothschild; Valérie Proulle; Audrey Pietrzyk-Nivau; Eliane Berrou; Olivier D Christophe; Jean-Philippe Rosa; Peter J Lenting; Marijke Bryckaert; Cécile V Denis; Dominique Baruch
Journal:  JCI Insight       Date:  2016-10-06
  1 in total

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