2013
DOI: 10.1016/s1474-4422(13)70104-2
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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

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Cited by 171 publications
(246 citation statements)
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References 31 publications
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“…The Ataxia Study Group (www.ataxia-study-group.net) investigates the natural history of the preclinical stages in SCA1, SCA2, SCA3, and SCA6 (RISCA). Here, although sample size was limited to four preclinical SCA2 mutation carriers, we were able to report loss of volume in the brainstem and cerebellum compared to noncarriers 14. In a larger sample from Cuba, manual volumetric delineation displayed mild cerebellar and pontine atrophy in some cases 15.…”
Section: Introductionmentioning
confidence: 73%
“…The Ataxia Study Group (www.ataxia-study-group.net) investigates the natural history of the preclinical stages in SCA1, SCA2, SCA3, and SCA6 (RISCA). Here, although sample size was limited to four preclinical SCA2 mutation carriers, we were able to report loss of volume in the brainstem and cerebellum compared to noncarriers 14. In a larger sample from Cuba, manual volumetric delineation displayed mild cerebellar and pontine atrophy in some cases 15.…”
Section: Introductionmentioning
confidence: 73%
“…The RISCA study showed that SCA2 mutation carriers had subtle coordination deficits that started in preclinical stage, and gradually increased before the onset of clinically manifested ataxia. Cramps appeared to be more frequent in SCA2 carriers than in noncarriers 74. In the prospective Cuban cohort study, signs of peripheral nervous system involvement such as muscle cramps (4–12 years before ataxia), and sensory abnormalities (1–8 years before ataxia) occurred very early.…”
Section: Presymptomatic Carriersmentioning
confidence: 97%
“…A correlation was present between the decreased of saccade velocity and time to manifestation of symptoms 78. Eighty‐three SCA2 RISCA cohort carriers underwent volumetric analysis that showed reduced brainstem volumes, and brain voxel‐based morphometry MRI that showed gray matter loss in lobule V and VI of the cerebellum 74. Nuclear imaging study have shown dopaminergic impairment79 and cerebellar and brainstem hypometabolism in preclinical stage 55…”
Section: Presymptomatic Carriersmentioning
confidence: 99%
“…Voxel‐based morphometry (VBM), a processing technique of magnetic resonance imaging (MRI) that can detect regional morphological changes in the whole brain, has been commonly used to evaluate gray matter (GM) and white matter (WM) volume abnormalities in SCA2 patients (Brenneis, Bosch, Schocke, Wenning, & Poewe, 2003; D'Agata, Caroppo, Boghi et al., 2011; Goel et al., 2011; Hernandez‐Castillo et al., 2015; Jacobi et al., 2013; Mercadillo et al., 2014; Nave, Ginestroni, Tessa, Cosottini et al., 2008; Nave, Ginestroni, Tessa, Salvatore et al., 2008; Olivito et al., 2018). However, the findings of these studies are variable and conflicting.…”
Section: Introductionmentioning
confidence: 99%
“…However, the findings of these studies are variable and conflicting. Some studies reported regional cerebral atrophy in frontal, parietal, and temporal lobes (Brenneis et al., 2003; Goel et al., 2011; Hernandez‐Castillo et al., 2015; Mercadillo et al., 2014; Nave, Ginestroni, Tessa, Salvatore et al., 2008), while some studies found brain volume reductions limited in the infratentorial regions such as cerebellum and pons (D'Agata, Caroppo, Boghi et al., 2011; Jacobi et al., 2013; Nave, Ginestroni, Tessa, Cosottini et al., 2008; Olivito et al., 2018). The atrophy of mesencephalon and thalamus was also detected in a few studies (Brenneis et al., 2003; Nave, Ginestroni, Tessa, Salvatore et al., 2008), and significant parahippocampal atrophy was demonstrated in one study (Mercadillo et al., 2014).…”
Section: Introductionmentioning
confidence: 99%