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Neurol Genet. 2015 Oct 8;1(3):e24. doi: 10.1212/NXG.0000000000000024. eCollection 2015 Oct.

Dyslexia susceptibility genes influence brain atrophy in frontotemporal dementia.

Author information

1
Departments of Biomedical Sciences and Translational Medicine (D.P.) and Clinical and Experimental Sciences (E.P., E.B., A.A., V.G., A.P., B.B.), Centre of Brain Aging, Neurology Unit, University of Brescia; the III Laboratory (S.A.), Biotechnology, Spedali Civili Hospital, Brescia; and the Neuroradiology Unit (R.G.), University of Brescia, Italy.

Abstract

OBJECTIVE:

In this study, we evaluated whether variations within genes specifically associated with dyslexia, namely KIAA0319, DCDC2, and CNTNAP2, were associated with greater damage of language-related regions in patients with frontotemporal dementia (FTD) and primary progressive aphasia (PPA) in particular.

METHODS:

A total of 118 patients with FTD, 84 with the behavioral variant of FTD (bvFTD) and 34 with PPA, underwent neuropsychological examination, genetic analyses, and brain MRI. KIAA0319 rs17243157 G/A, DCDC2 rs793842 A/G, and CNTNAP2 rs17236239 A/G genetic variations were assessed. Patients were grouped according to clinical phenotype and genotype status (GA/AA or GG). Gray matter (GM) and white matter (WM) differences were assessed by voxel-based morphometry and structural intercorrelation pattern analyses.

RESULTS:

Patients carrying KIAA0319 A* (GA or AA) showed greater GM and WM atrophy in the left middle and inferior temporal gyri, as compared with KIAA0319 GG (p < 0.001). The effect of KIAA0319 polymorphism was mainly reported in patients with PPA. In patients with PPA carrying at-risk polymorphism, temporal damage led to loss of interhemispheric and intrahemispheric GM and WM structural association. No effect of DCDC2 and CNTNAP2 was found.

CONCLUSIONS:

Genes involved in dyslexia susceptibility, such as KIAA0319, result in language network vulnerability in FTD, and in PPA in particular.

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