Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.

Details

Serval ID
serval:BIB_4410A99BD4BD
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.
Journal
Neurobiology of Aging
Author(s)
Hippolyte L., Battistella G., Perrin A.G., Fornari E., Cornish K.M., Beckmann J.S., Niederhauser J., Vingerhoets F.J., Draganski B., Maeder P., Jacquemont S.
ISSN
1558-1497 (Electronic)
ISSN-L
0197-4580
Publication state
Published
Issued date
2014
Volume
35
Number
8
Pages
1939-1946
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset movement disorder associated with FMR1 premutation alleles. Asymptomatic premutation (aPM) carriers have preserved cognitive functions, but they present subtle executive deficits. Current efforts are focusing on the identification of specific cognitive markers that can detect aPM carriers at higher risk of developing FXTAS. This study aims at evaluating verbal memory and executive functions as early markers of disease progression while exploring associated brain structure changes using diffusion tensor imaging. We assessed 30 aPM men and 38 intrafamilial controls. The groups perform similarly in the executive domain except for decreased performance in motor planning in aPM carriers. In the memory domain, aPM carriers present a significant decrease in verbal encoding and retrieval. Retrieval is associated with microstructural changes of the white matter (WM) of the left hippocampal fimbria. Encoding is associated with changes in the WM under the right dorsolateral prefrontal cortex, a region implicated in relational memory encoding. These associations were found in the aPM group only and did not show age-related decline. This may be interpreted as a neurodevelopmental effect of the premutation, and longitudinal studies are required to better understand these mechanisms.
Pubmed
Web of science
Open Access
Yes
Create date
19/03/2014 13:22
Last modification date
20/08/2019 14:48
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