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Title: Consensus Paper: Radiological Biomarkers of Cerebellar Diseases
Authors: Baldarcara, Leonardo [UNIFESP]
Currie, Stuart
Hadjivassiliou, M.
Hoggard, Nigel
Jack, Allison
Jackowski, Andrea P. [UNIFESP]
Mascalchi, Mario
Parazzini, Cecilia
Reetz, Kathrin
Righini, Andrea
Schulz, Joerg B.
Vella, Alessandra
Webb, Sara Jane
Habas, Christophe
Fed Univ Tocantins
Universidade Federal de São Paulo (UNIFESP)
Univ Sheffield
Royal Hallamshire Hosp
Yale Univ
Univ Florence
Meyer Children & Careggi Hosp Florence
Childrens Hosp Buzzi
RWTH Aachen Univ Hosp
Forschungszentrum Julich
Julich Aachen Res Alliance JARA
Univ Hosp Siena
Univ Washington
CHNO Quinze Vingts
Keywords: Cerebellum
Radiological biomarker
Fetal malformation
Issue Date: 1-Apr-2015
Publisher: Springer
Citation: Cerebellum. New York: Springer, v. 14, n. 2, p. 175-196, 2015.
Abstract: Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation. Brain imaging including magnetic resonance (MR) and nuclear medicine techniques allows for characterization of structural and functional abnormalities underlying symptomatic ataxias. These methods thus constitute a potential source of radiological biomarkers, which could be used to identify these diseases and differentiate subgroups of them, and to assess their severity and their evolution. Such biomarkers mainly comprise qualitative and quantitative data obtained from MR including proton spectroscopy, diffusion imaging, tractography, voxel-based morphometry, functional imaging during task execution or in a resting state, and from SPETC and PET with several radiotracers. in the current article, we aim to illustrate briefly some applications of these neuroimaging tools to evaluation of cerebellar disorders such as inherited cerebellar ataxia, fetal developmental malformations, and immune-mediated cerebellar diseases and of neurodegenerative or early-developing diseases, such as dementia and autism in which cerebellar involvement is an emerging feature. Although these radiological biomarkers appear promising and helpful to better understand ataxia-related anatomical and physiological impairments, to date, very few of them have turned out to be specific for a given ataxia with atrophy of the cerebellar system being the main and the most usual alteration being observed. Consequently, much remains to be done to establish sensitivity, specificity, and reproducibility of available MR and nuclear medicine features as diagnostic, progression and surrogate biomarkers in clinical routine.
ISSN: 1473-4222
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