Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

Annals of Clinical and Translational Neurology
Kathrin ReetzLuis Velázquez-Pérez

Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2. In this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled. Semiautomated quantitative volumetry of the cerebellum and brainstem, subdivided into the medulla oblongata, the pontine brainstem, and mesencephalon was performed. Additionally, the anteroposterior diameter of the pontine brainstem was measured. Analysis of volumetric data revealed degeneration of the cerebellum and brainstem, in particular of pontine volumes and the anteroposterior diameter of the pons, in both manifest SCA2 patients and individuals at risk for SCA2 compared to controls. Comparing patients with nonataxic preclinical SCA2 mutation carriers, we found more pronounced reductions of the pon...Continue Reading

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Citations

Sep 27, 2018·The European Journal of Neuroscience·Amanda ChirinoJuan Fernandez-Ruiz
Apr 9, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Luis Velázquez-PérezReidenis Torres-Vega
Dec 4, 2019·Current Opinion in Neurology·Mario MantoMichael Strupp
Nov 27, 2019·International Journal of Molecular Sciences·Nesli-Ece SenGeorg Auburger
Aug 23, 2019·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Polina A Egorova, Ilya B Bezprozvanny
Feb 9, 2020·International Journal of Molecular Sciences·Mario Mascalchi, Alessandra Vella
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Apr 10, 2021·Journal of the Neurological Sciences·Meng-Ling ChenSheng-Han Kuo
May 6, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Jennifer FaberThomas Klockgether
Jul 10, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Paula Camila A A P MatosMarcondesCavalcante França
Jul 31, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Amanda Chirino-PérezJuan Fernandez-Ruiz
Nov 21, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Jitka MájovskáPetr Dušek

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Software Mentioned

SNAP
ITK
SPM12
SPSS
Otoscreen

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