Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

Velázquez‐Pérez, Luis; Seifried, Carola; Abele, Michael; Wirjatijasa, Florentina; Rodríguez‐Labrada, Roberto; Santos-Falcón, N; Sánchez-Cruz, Gilberto; Almaguer-Mederos, L.; Tejeda, R.; Canales-Ochoa, Nalia; Fetter, M.; Ziemann, Ulf; Klockgether, Thomas; Medrano‐Montero, Jacqueline; Rodríguez-Díaz, Julio Cesar; Laffita-Mesa, José Miguel; Auburger, Georg

doi:10.1016/j.clinph.2008.12.040

Cited by 74 publications

(64 citation statements)

References 24 publications

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“…SCA2 patients show a severe saccadic pathology, characterized by saccadic slowing [26,27], saccadic dysmetria [28] and prolongation of the saccadic latency [29]. In the present study, we observed a significant decrease of mean saccadic latency in the zinc group but the remaining alterations were unchanged.…”

Section: Discussionsupporting

confidence: 51%

“…The non-significant changes in maximal saccadic velocity and saccadic deviation values in zinc group are in accordance with the nature and extension of these saccadic abnormalities in SCA2 patients. Saccadic velocity is strongly controlled by the CAG repeat size instead of environmental factors and it begin several years before the disease [26,27] by that the degree of neurodegeneration in the saccadic pontine region in usually notable and therefore it is very difficult to change by mean this conventional pharmacological supplement in only 6 months.…”

Section: Discussionmentioning

confidence: 99%

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Oral Zinc Sulphate Supplementation for Six Months in SCA2 Patients: A Randomized, Double-Blind, Placebo-Controlled Trial

et al. 2011

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Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and safety of zinc supplementation, 36 Cuban SCA2 patients were randomly assigned to receive daily either 50 mg ZnSO(4) or placebo, together with neurorehabilitation therapy in a randomized, double-blind, placebo-controlled clinical trial during 6 months. Outcome measures included the changes of zinc levels in CSF and serum, ataxia score, oxidative stress and saccadic eye movements. At the end of the study, the Zinc-treated group showed: (i) a significant increase of the Zn levels in the CSF, (ii) mild decrease in the ataxia scale subscores for gait, posture, stance and dysdiadochocinesia (iii) reduction of lipid's oxidative damage, and (iv) reduction of saccadic latency when compared with the placebo group. The treatment was safe and well tolerated by all subjects. This study demonstrated the efficacy and safety of Zn supplementation, combined with neurorehabilitation for SCA2 patients and therefore it may encourage further studies on the clinical effect of zinc supplementation in SCA2 based in the conduction of future clinical trials with higher number of subjects.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Oral Zinc Sulphate Supplementation for Six Months in SCA2 Patients: A Randomized, Double-Blind, Placebo-Controlled Trial

et al. 2011

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“…10,11 These formulas allow for correlations between the number of years to estimated disease onset and clinical outcome variables.…”

mentioning

confidence: 99%

The preclinical stage of spinocerebellar ataxias

et al. 2015

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The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be established years or even decades before the actual appearance of ataxia symptoms. A growing body of evidence, however, indicates that this preclinical stage is subject to the earliest pathophysiologic changes. This review article comprehensively summarizes the studies conducted in preclinical carriers of a mutation in one of the SCA genes. From these data, it can indeed be concluded that the preclinical phase in SCA is already characterized by detectable central and peripheral nervous system changes, which are reflected by subtle abnormalities during a careful clinical examination, changes in structural and functional brain imaging, abnormal neurophysiologic measurements, and/or altered motor learning paradigms. As these may be compensated for a long time, ataxia symptoms probably only appear after a certain threshold of dysfunction or degeneration has been exceeded. Detailed knowledge of this disease stage is of particular relevance for a better understanding of the pathogenesis of SCAs, will allow us to determine the optimal point in time for interventions in future therapeutic trials, and points to objective, valid biomarkers to assess disease progression. Further studies will benefit from a consensus-based definition of the preclinical stage, from using one and the same validated ataxia rating scale with one fixed cutoff value, and from applying similar mathematical models to calculate time to predicted disease onset.

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“…Saccades were slowed most notably in subjects with the largest CAG expansions. 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.…”

Section: Presymptomatic Carriersmentioning

confidence: 99%

The Multiple Faces of Spinocerebellar Ataxia type 2

Antenora

Rinaldi

Roca

et al. 2017

Ann Clin Transl Neurol

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Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin‐2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available. Although the functions of ataxin‐2 have not been completely elucidated, the protein is involved in mRNA processing and control of translation. Recently, it has also been shown that the size of the CAG repeat in normal alleles represents a risk factor for ALS, suggesting that ataxin‐2 plays a fundamental role in maintenance of neuronal homeostasis.

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Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

Cited by 74 publications

References 24 publications

Oral Zinc Sulphate Supplementation for Six Months in SCA2 Patients: A Randomized, Double-Blind, Placebo-Controlled Trial

Oral Zinc Sulphate Supplementation for Six Months in SCA2 Patients: A Randomized, Double-Blind, Placebo-Controlled Trial

The preclinical stage of spinocerebellar ataxias

The Multiple Faces of Spinocerebellar Ataxia type 2

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