Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.

Details

Serval ID
serval:BIB_B442D9A32C1F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.
Journal
Neurobiology of aging
Author(s)
Battistella G., Niederhauser J., Fornari E., Hippolyte L., Gronchi Perrin A., Lesca G., Forzano F., Hagmann P., Vingerhoets F.J., Draganski B., Maeder P., Jacquemont S.
ISSN
1558-1497 (Electronic)
ISSN-L
0197-4580
Publication state
Published
Issued date
06/2013
Peer-reviewed
Oui
Volume
34
Number
6
Pages
1700-1707
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset movement disorder affecting FMR1 premutation carriers, is associated with cerebral and cerebellar lesions. The aim of this study was to test whether computational anatomy can detect similar patterns in asymptomatic FMR1 premutation carriers (mean age 46.7 years) with qualitatively normal -appearing grey and white matter on brain MRI. We used a multimodal imaging protocol to characterize brain anatomy by automated assessment of gray matter volume and white matter properties. Structural changes in the hippocampus and in the cerebellar motor network with decreased gray matter volume in lobule VI and white matter alterations of the corresponding afferent projections through the middle cerebellar peduncles are demonstrated. Diffuse subcortical white matter changes in both hemispheres, without corresponding gray matter alterations, are only identified through age × group interactions. We interpret the hippocampal fimbria and cerebellar changes as early alterations with a possible neurodevelopmental origin. In contrast, progression of the diffuse cerebral hemispheric white matter changes suggests a neurodegenerative process, leading to late-onset lesions, which may mark the imminent onset of FXTAS.
Keywords
Adult, Aged, Asymptomatic Diseases, Ataxia/diagnosis, Ataxia/genetics, Ataxia/pathology, Brain/pathology, Fragile X Mental Retardation Protein/genetics, Fragile X Syndrome/diagnosis, Fragile X Syndrome/genetics, Fragile X Syndrome/pathology, Genetic Predisposition to Disease/genetics, Heterozygote, Humans, Male, Middle Aged, Mutation/genetics, Single-Blind Method, Tremor/diagnosis, Tremor/genetics, Tremor/pathology, Young Adult
Pubmed
Web of science
Create date
17/01/2013 16:22
Last modification date
21/02/2020 6:19
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