MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆

Ataxia with Oculomotor Apraxia type 2 (AOA2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. The first objective of this work was to identify specific cerebellar atrophy using MRI in patients with AOA2. Since increased iron deposits have been reported in degenerative d...

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Main Authors:	Frismand, Solène, Salem, Hannoun, Panouilleres, Muriel, Pélisson, Denis, Jacobs, Stéphane, Vighetto, Alain, Cotton, François, Tilikete, Caroline
Format:	Online
Language:	English
Published:	Elsevier 2013
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777765/

id	pubmed-3777765
recordtype	oai_dc
spelling	pubmed-37777652013-10-31 MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆ Frismand, Solène Salem, Hannoun Panouilleres, Muriel Pélisson, Denis Jacobs, Stéphane Vighetto, Alain Cotton, François Tilikete, Caroline Article Ataxia with Oculomotor Apraxia type 2 (AOA2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. The first objective of this work was to identify specific cerebellar atrophy using MRI in patients with AOA2. Since increased iron deposits have been reported in degenerative diseases, our second objective was to report iron deposits signals in the dentate nuclei in AOA2. Five patients with AOA2 and 5 age-matched controls were subjects in a 3T MRI experiment that included a 3D turbo field echo T1-weighted sequence. The normalized volumes of twenty-eight cerebellar lobules and the percentage of atrophy (relative to controls) of the 4 main cerebellar regions (flocculo-nodular, vermis, anterior and posterior) were measured. The dentate nucleus signals using 3D fast field echo sequence for susceptibility-weighted images (SWI) were reported, as a measure of iron content. We found that all patients had a significant atrophy of all cerebellar lobules as compared to controls. The percentage of atrophy was the highest for the vermis, consistent with patients' oculomotor presentation, and for the anterior lobe, consistent with kinetic limb ataxia. We also describe an absence of hypointensity of the iron signal on SWI in the dentate nucleus of all patients compared to control subjects. This study suggests that patients with Ataxia with Oculomotor Apraxia type 2 present MRI patterns consistent with their clinical presentation. The absence of SWI hypointensity in dentate nucleus is a new radiological sign which was identified in all patients. The specificity of this absence of signal must be further determined in AOA2. Elsevier 2013-04-10 /pmc/articles/PMC3777765/ /pubmed/24179805 http://dx.doi.org/10.1016/j.nicl.2013.03.018 Text en © 2013 The Authors http://creativecommons.org/licenses/by-nc-sa/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Frismand, Solène Salem, Hannoun Panouilleres, Muriel Pélisson, Denis Jacobs, Stéphane Vighetto, Alain Cotton, François Tilikete, Caroline
spellingShingle	Frismand, Solène Salem, Hannoun Panouilleres, Muriel Pélisson, Denis Jacobs, Stéphane Vighetto, Alain Cotton, François Tilikete, Caroline MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆
author_facet	Frismand, Solène Salem, Hannoun Panouilleres, Muriel Pélisson, Denis Jacobs, Stéphane Vighetto, Alain Cotton, François Tilikete, Caroline
author_sort	Frismand, Solène
title	MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆
title_short	MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆
title_full	MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆
title_fullStr	MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆
title_full_unstemmed	MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆
title_sort	mri findings in aoa2: cerebellar atrophy and abnormal iron detection in dentate nucleus☆
description	Ataxia with Oculomotor Apraxia type 2 (AOA2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. The first objective of this work was to identify specific cerebellar atrophy using MRI in patients with AOA2. Since increased iron deposits have been reported in degenerative diseases, our second objective was to report iron deposits signals in the dentate nuclei in AOA2. Five patients with AOA2 and 5 age-matched controls were subjects in a 3T MRI experiment that included a 3D turbo field echo T1-weighted sequence. The normalized volumes of twenty-eight cerebellar lobules and the percentage of atrophy (relative to controls) of the 4 main cerebellar regions (flocculo-nodular, vermis, anterior and posterior) were measured. The dentate nucleus signals using 3D fast field echo sequence for susceptibility-weighted images (SWI) were reported, as a measure of iron content. We found that all patients had a significant atrophy of all cerebellar lobules as compared to controls. The percentage of atrophy was the highest for the vermis, consistent with patients' oculomotor presentation, and for the anterior lobe, consistent with kinetic limb ataxia. We also describe an absence of hypointensity of the iron signal on SWI in the dentate nucleus of all patients compared to control subjects. This study suggests that patients with Ataxia with Oculomotor Apraxia type 2 present MRI patterns consistent with their clinical presentation. The absence of SWI hypointensity in dentate nucleus is a new radiological sign which was identified in all patients. The specificity of this absence of signal must be further determined in AOA2.
publisher	Elsevier
publishDate	2013
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777765/
_version_	1612012833022672896

MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus☆

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