Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

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.

[1]  J. Schiefer,et al.  Brain imaging findings in idiopathic REM sleep behavior disorder (RBD) - A systematic review on potential biomarkers for neurodegeneration. , 2017, Sleep medicine reviews.

[2]  Daniel R. Scoles,et al.  Antisense oligonucleotide therapy for spinocerebellar ataxia type 2 , 2017, Nature.

[3]  U. Ziemann,et al.  Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials , 2016, Movement disorders : official journal of the Movement Disorder Society.

[4]  L. Schöls,et al.  No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra. , 2015, Brain : a journal of neurology.

[5]  J. Fernández-Ruiz,et al.  Functional connectivity changes related to cognitive and motor performance in spinocerebellar ataxia type 2 , 2015, Movement disorders : official journal of the Movement Disorder Society.

[6]  Mario Quarantelli,et al.  Modifications of resting state networks in spinocerebellar ataxia type 2 , 2015, Movement disorders : official journal of the Movement Disorder Society.

[7]  R. Díaz,et al.  Extensive White Matter Alterations and Its Correlations with Ataxia Severity in SCA 2 Patients , 2015, PloS one.

[8]  R. Díaz,et al.  Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry , 2014, Journal of the Neurological Sciences.

[9]  R. Díaz,et al.  Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease , 2014, The Cerebellum.

[10]  Elena Salvatore,et al.  Supratentorial and infratentorial damage in spinocerebellar ataxia 2: A diffusion‐weighted MRI study , 2014, Movement disorders : official journal of the Movement Disorder Society.

[11]  Nicola Toschi,et al.  Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study , 2014, PloS one.

[12]  Alexandra Durr,et al.  Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data , 2013, The Lancet Neurology.

[13]  Till-Karsten Hauser,et al.  Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. , 2013, Brain : a journal of neurology.

[14]  Jennifer L. Cuzzocreo,et al.  MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2 , 2012, The Cerebellum.

[15]  K. Bushara,et al.  Distinct Neurochemical Profiles of Spinocerebellar Ataxias 1, 2, 6, and Cerebellar Multiple System Atrophy , 2011, The Cerebellum.

[16]  T. Klockgether,et al.  Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage , 2011, The Cerebellum.

[17]  R. Rodríguez-Labrada,et al.  Sleep Disorders in Spinocerebellar Ataxia Type 2 Patients , 2011, Neurodegenerative Diseases.

[18]  Katiuscia Sacco,et al.  Linking coordinative and executive dysfunctions to atrophy in spinocerebellar ataxia 2 patients , 2011, Brain Structure and Function.

[19]  R. Rodríguez-Labrada,et al.  Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers , 2011, Movement disorders : official journal of the Movement Disorder Society.

[20]  J. Laffita-Mesa,et al.  Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis , 2009, Clinical genetics.

[21]  J. L. Mesa,et al.  Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin , 2009, Neuroscience Letters.

[22]  Mario Mascalchi,et al.  Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics , 2008, NeuroImage.

[23]  Mario Mascalchi,et al.  Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry , 2008, NeuroImage.

[24]  S. Datta,et al.  Neurobiological mechanisms for the regulation of mammalian sleep–wake behavior: Reinterpretation of historical evidence and inclusion of contemporary cellular and molecular evidence , 2007, Neuroscience & Biobehavioral Reviews.

[25]  L. Minati,et al.  Diffusion Tensor Imaging of Spinocerebellar Ataxias Types 1 and 2 , 2007, American Journal of Neuroradiology.

[26]  Stefano Ramat,et al.  What clinical disorders tell us about the neural control of saccadic eye movements. , 2007, Brain : a journal of neurology.

[27]  K. Krakow,et al.  Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2) , 2006, Neurology.

[28]  Guido Gerig,et al.  User-guided 3D active contour segmentation of anatomical structures: Significantly improved efficiency and reliability , 2006, NeuroImage.

[29]  A. Durr,et al.  Scale for the Assessment and Rating of Ataxia (SARA) , 2010 .

[30]  A W Toga,et al.  Pontine and cerebellar atrophy correlate with clinical disability in SCA2 , 2006, Neurology.

[31]  D. Caplan,et al.  Cognition, emotion and the cerebellum. , 2006, Brain : a journal of neurology.

[32]  H. Braak,et al.  Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2) , 2005, Acta Neuropathologica.

[33]  Michael Fetter,et al.  Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2 , 2004, Annals of neurology.

[34]  G Belli,et al.  Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. , 2004, Brain : a journal of neurology.

[35]  Michael Schocke,et al.  Atrophy pattern in SCA2 determined by voxel-based morphometry , 2003, Neuroreport.

[36]  G. Reifenberger,et al.  Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance. , 2003, Brain : a journal of neurology.

[37]  Georg Auburger,et al.  Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies , 1999, Acta Neuropathologica.

[38]  M Skalej,et al.  Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. , 1998, Brain : a journal of neurology.

[39]  T Klockgether,et al.  The natural history of degenerative ataxia: a retrospective study in 466 patients. , 1998, Brain : a journal of neurology.

[40]  Georg Auburger,et al.  Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 , 1996, Nature Genetics.

[41]  O. Selnes.  A Compendium of Neuropsychological Tests , 1991, Neurology.

[42]  G. Auburger,et al.  Autosomal dominant cerebellar ataxia , 1990, Neurology.

[43]  R. Rosenthal.  Meta-analytic procedures for social research , 1984 .