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

Battistella, G., Niederhauser, J., Fornari, E., Hippolyte, L., Perrin, A. G., Lesca, G., et al. (2013). Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. Neurobiology of Aging, 34(6), 1700-1707. doi:10.1016/j.neurobiolaging.2012.12.001.

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Battistella, Giovanni1, Author
Niederhauser, Julien2, Author
Fornari, Eleonora1, 3, Author
Hippolyte, Loyse4, Author
Perrin, Aline Gronchi2, Author
Lesca, Gaetan5, Author
Forzano, Francesca6, Author
Hagmann, Patric1, Author
Vingerhoets, Francois J. G.2, Author
Draganski, Bogdan7, 8, 9, Author              
Maeder, Philippe1, Author
Jacquemont, Sebastien4, Author
Affiliations:
1Department of Radiology, Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
2Service of Neurology, Département des Neurosciences Cliniques, Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
3Centre d'Imagerie Biomédicale, Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
4Service of Medical Genetics, Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
5Génétique clinique, Hôpital Femme Mère Enfant, Lyon, France, ou_persistent22              
6Division of Medical Genetics, Galliera Hospital, Genova, Italy, ou_persistent22              
7Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              
8Laboratoire de Recherche en Neuroimagerie (LREN), Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
9Division of Mind and Brain Research, Charité University Medicine Berlin, Germany, ou_persistent22              

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Free keywords: FXTAS; Premutation; Genetics; Volumetric MRI; DTI
 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.

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Language(s): eng - English
 Dates: 2012-11-132012-12-032013-01-052013-06
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.neurobiolaging.2012.12.001
PMID: 23298734
Other: Epub 2013
 Degree: -

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Title: Neurobiology of Aging
  Other : Neurobiol. Aging
Source Genre: Journal
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Publ. Info: New York, NY [etc.] : Elsevier
Pages: - Volume / Issue: 34 (6) Sequence Number: - Start / End Page: 1700 - 1707 Identifier: ISSN: 0197-4580
CoNE: https://pure.mpg.de/cone/journals/resource/954925491902