Prism adaptation in spinocerebellar ataxia type 2

Fernández-Ruíz, Juan; Velásquez-Pérez, Luis; Dı́az, Rosalinda; Drucker-Colı́n, René; Pérez-González, Ruth; Canales, Nalia; Sánchez-Cruz, Gilberto; Martínez-Góngora, E; Medrano, Yaquelín; Almaguer-Mederos, Luis E.; Seifried, Carola; Auburger, Georg

doi:10.1016/j.neuropsychologia.2007.04.006

Cited by 41 publications

(27 citation statements)

References 34 publications

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“…Three additional measures were calculated from the collected data of both experiments. First, a motor performance coefficient (PQ), or called variable error (55,64), was calculated from the baseline phase. To obtain the PQ, the horizontal errors (distance from each impact location to a vertical line passing through the target) of the PRE trials were measured.…”

Section: Patmentioning

confidence: 99%

Familial Alzheimer’s disease–associated presenilin-1 alters cerebellar activity and calcium homeostasis

Sepulveda‐Falla¹,

Barrera-Ocampo²,

Hagel³

et al. 2014

J. Clin. Invest.

111

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Familial Alzheimer's disease (FAD) is characterized by autosomal dominant heritability and early disease onset. Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cases of FAD, with some of these patients presenting cerebellar damage with amyloid plaques and ataxia with unclear pathophysiology. A Colombian kindred carrying the PS1-E280A mutation is the largest known cohort of PS1-FAD patients. Here, we investigated PS1-E280A-associated cerebellar dysfunction and found that it occurs early in PS1-E208A carriers, while cerebellar signs are highly prevalent in patients with dementia. Postmortem analysis of cerebella of PS1-E280A carrier revealed greater Purkinje cell (PC) loss and more abnormal mitochondria compared with controls. In PS1-E280A tissue, ER/mitochondria tethering was impaired, Ca 2+ channels IP3Rs and CACNA1A were downregulated, and Ca 2+ -dependent mitochondrial transport proteins MIRO1 and KIF5C were reduced. Accordingly, expression of PS1-E280A in a neuronal cell line altered ER/ mitochondria tethering and transport compared with that in cells expressing wild-type PS1. In a murine model of PS1-FAD, animals exhibited mild ataxia and reduced PC simple spike activity prior to cerebellar β-amyloid deposition. Our data suggest that impaired calcium homeostasis and mitochondrial dysfunction in PS1-FAD PCs reduces their activity and contributes to motor coordination deficits prior to Aβ aggregation and dementia. We propose that PS1-E280A affects both Ca 2+ homeostasis and Aβ precursor processing, leading to FAD and neurodegeneration.

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Section: Patmentioning

confidence: 99%

Familial Alzheimer’s disease–associated presenilin-1 alters cerebellar activity and calcium homeostasis

Sepulveda‐Falla¹,

Barrera-Ocampo²,

Hagel³

et al. 2014

J. Clin. Invest.

111

View full text Add to dashboard Cite

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“…Le Pira et al [22] partially confirmed these results, but they also found defects in attention as well as nonverbal intelligence task. Fernandez-Ruiz et al [23] tested 43 SCA2 patients and their matched controls in prism adaptation, a kind of visuomotor learning task. SCA2 patients showed an impaired strategic control that affected the adaptation rate, but a normal spatial realignment measured through the aftereffect.…”

Section: Spinocerebellar Ataxia Typementioning

confidence: 99%

Cognitive Impairment in Spinocerebellar Degeneration

et al. 2009

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It has been reported that patients with spinocerebellar degenerations (SCDs) have cognitive dysfunction as well as limb and truncal ataxia, dysarthria and dysphagia. We review cognitive dysfunction in common types of SCD, including spinocerebellar ataxia types 1, 2, 3, 6, and 17, dentatorubral-pallidoluysian atrophy, Friedreich’s ataxia, and multiple system atrophy. There are few studies that address cognitive function in SCD. Although there are few comparison studies among the various SCDs, cognitive dysfunction may be more common and severe in spinocerebellar ataxia type 17 and dentatorubral-pallidoluysian atrophy. While cognitive dysfunction in SCD appears to represent frontal dysfunction, the mechanisms of cognitive dysfunction have not been directly clarified. Nevertheless, various lesions, including those in the cerebrocerebellar circuitry, cortico-striatal-thalamocortical circuitry, and the frontal lobe, may influence cognitive function to various degrees for each disease.

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“…To explore this possibility we decided to test men and women in a prism adaptation task that involves throwing balls at a target [8]. This task has the added benefit that it makes possible to separate visuomotor performance from visuomotor learning [9-11]. For example, patient populations like Parkinson's disease (PD) or Huntington's disease (HD) show significant impairments in visuomotor performance as measured by the large variance showed in their baseline throws; however, their visuomotor adaptation rate remains largely intact during the prism adaptation phase of the task [12].…”

Section: Introductionmentioning

confidence: 99%

Sex-related differences in motor learning and performance

et al. 2010

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Gender differences have been shown across many domains, and motor skills are no exception. One of the most robust findings is a significant sex difference in throwing accuracy, which reflects the advantage of men in targeting abilities. However, little is known about the basis of this difference. To try to dissect possible mechanisms involved in this difference, here we tested for gender variations in a prism adaptation throwing task. We tested 154 subjects in a visuomotor prism adaptation task that discriminates between motor performance, visuomotor adaptation and negative aftereffects. Our results corroborate men's significant better throwing accuracy, although there were no adaptation differences between genders. In contrast, women showed significant larger negative aftereffects, which could be explained by a larger contribution of spatial alignment. These results suggest that different learning mechanisms, like strategic calibration and spatial alignment, may have different contributions in men and women.

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Prism adaptation in spinocerebellar ataxia type 2

Cited by 41 publications

References 34 publications

Familial Alzheimer’s disease–associated presenilin-1 alters cerebellar activity and calcium homeostasis

Familial Alzheimer’s disease–associated presenilin-1 alters cerebellar activity and calcium homeostasis

Cognitive Impairment in Spinocerebellar Degeneration

Sex-related differences in motor learning and performance

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