Article
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Brain : a journal of neurology - 1 Mar 2012
Simón-Sánchez Javier, Dopper Elise G P, Cohn-Hokke Petra E, Hukema Renate K, Nicolaou Nayia, Seelaar Harro, de Graaf J Roos A, de Koning Inge, van Schoor Natasja M, Deeg Dorly J H, Smits Marion, Raaphorst Joost, van den Berg Leonard H, Schelhaas Helenius J, De Die-Smulders Christine E M, Majoor-Krakauer Danielle, Rozemuller Annemieke J M, Willemsen Rob, Pijnenburg Yolande A L, Heutink Peter, van Swieten John C
Abstract excerpt
There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis are part of a disease continuum. Recently, a hexanucleotide repeat expansion in C9orf72 was identified as a major cause of both sporadic and familial frontotemporal dementia and amyotrophic lateral sclerosis. The aim of this study was to investigate clinical and neuropathological characteristics of hexanucleotide repeat...
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