Article
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
European journal of human genetics : EJHG - 1 Nov 2013
de Bot Susanne T, Burggraaff Rogier C, Herkert Johanna C, Schelhaas Helenius J, Post Bart, Diekstra Adinda, van Vliet Reinout O, van der Knaap Marjo S, Kamsteeg Erik-Jan, Scheffer Hans, van de Warrenburg Bart P, Verschuuren-Bemelmans Corien C, Kremer Hubertus P H
Abstract excerpt
Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. We therefore studied the disease course of all patients with a proven SPG11 mutation as tested in our laboratory, the single Dutch laboratory providing SPG11 mutation analysis, between 1 January 2009 and 1 January 2011. We identified nine different SPG11 mutations,...
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