Multiparametric characterization of white matter alterations in early stage Huntington disease

Abstract Huntington’s disease (HD) is a monogenic, fully penetrant neurodegenerative disorder. Widespread white matter damage affects the brain of patients with HD at very early stages of the disease. Fixel-based analysis (FBA) is a novel method to investigate the contribution of individual crossing...

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Autores principales:	Isaac M. Adanyeguh, Francesca Branzoli, Cécile Delorme, Aurélie Méneret, Marie-Lorraine Monin, Marie-Pierre Luton, Alexandra Durr, Emanoel Sabidussi, Fanny Mochel
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f7abda06509c4ea3a642f325b6131684
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spelling	oai:doaj.org-article:f7abda06509c4ea3a642f325b61316842021-12-02T18:02:54ZMultiparametric characterization of white matter alterations in early stage Huntington disease10.1038/s41598-021-92532-12045-2322https://doaj.org/article/f7abda06509c4ea3a642f325b61316842021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-92532-1https://doaj.org/toc/2045-2322Abstract Huntington’s disease (HD) is a monogenic, fully penetrant neurodegenerative disorder. Widespread white matter damage affects the brain of patients with HD at very early stages of the disease. Fixel-based analysis (FBA) is a novel method to investigate the contribution of individual crossing fibers to the white matter damage and to detect possible alterations in both fiber density and fiber-bundle morphology. Diffusion-weighted magnetic resonance spectroscopy (DW-MRS), on the other hand, quantifies the motion of brain metabolites in vivo, thus enabling the investigation of microstructural alteration of specific cell populations. The aim of this study was to identify novel specific microstructural imaging markers of white matter degeneration in HD, by combining FBA and DW-MRS. Twenty patients at an early stage of HD and 20 healthy controls were recruited in a monocentric study. Using diffusion imaging we observed alterations to the brain microstructure and their morphology in patients with HD. Furthermore, FBA revealed specific fiber populations that were affected by the disease. Moreover, the mean diffusivity of the intra-axonal metabolite N-acetylaspartate, co-measured with N-acetylaspartylglutamate (tNAA), was significantly reduced in the corpus callosum of patients compared to controls. FBA and DW-MRS of tNAA provided more specific information about the biological mechanisms underlying HD and showed promise for early investigation of white matter degeneration in HD.Isaac M. AdanyeguhFrancesca BranzoliCécile DelormeAurélie MéneretMarie-Lorraine MoninMarie-Pierre LutonAlexandra DurrEmanoel SabidussiFanny MochelNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Isaac M. Adanyeguh Francesca Branzoli Cécile Delorme Aurélie Méneret Marie-Lorraine Monin Marie-Pierre Luton Alexandra Durr Emanoel Sabidussi Fanny Mochel Multiparametric characterization of white matter alterations in early stage Huntington disease
description	Abstract Huntington’s disease (HD) is a monogenic, fully penetrant neurodegenerative disorder. Widespread white matter damage affects the brain of patients with HD at very early stages of the disease. Fixel-based analysis (FBA) is a novel method to investigate the contribution of individual crossing fibers to the white matter damage and to detect possible alterations in both fiber density and fiber-bundle morphology. Diffusion-weighted magnetic resonance spectroscopy (DW-MRS), on the other hand, quantifies the motion of brain metabolites in vivo, thus enabling the investigation of microstructural alteration of specific cell populations. The aim of this study was to identify novel specific microstructural imaging markers of white matter degeneration in HD, by combining FBA and DW-MRS. Twenty patients at an early stage of HD and 20 healthy controls were recruited in a monocentric study. Using diffusion imaging we observed alterations to the brain microstructure and their morphology in patients with HD. Furthermore, FBA revealed specific fiber populations that were affected by the disease. Moreover, the mean diffusivity of the intra-axonal metabolite N-acetylaspartate, co-measured with N-acetylaspartylglutamate (tNAA), was significantly reduced in the corpus callosum of patients compared to controls. FBA and DW-MRS of tNAA provided more specific information about the biological mechanisms underlying HD and showed promise for early investigation of white matter degeneration in HD.
format	article
author	Isaac M. Adanyeguh Francesca Branzoli Cécile Delorme Aurélie Méneret Marie-Lorraine Monin Marie-Pierre Luton Alexandra Durr Emanoel Sabidussi Fanny Mochel
author_facet	Isaac M. Adanyeguh Francesca Branzoli Cécile Delorme Aurélie Méneret Marie-Lorraine Monin Marie-Pierre Luton Alexandra Durr Emanoel Sabidussi Fanny Mochel
author_sort	Isaac M. Adanyeguh
title	Multiparametric characterization of white matter alterations in early stage Huntington disease
title_short	Multiparametric characterization of white matter alterations in early stage Huntington disease
title_full	Multiparametric characterization of white matter alterations in early stage Huntington disease
title_fullStr	Multiparametric characterization of white matter alterations in early stage Huntington disease
title_full_unstemmed	Multiparametric characterization of white matter alterations in early stage Huntington disease
title_sort	multiparametric characterization of white matter alterations in early stage huntington disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/f7abda06509c4ea3a642f325b6131684
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Multiparametric characterization of white matter alterations in early stage Huntington disease

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