Concept

Cerebellar ataxia

Related publications (22)

The Cerebellum and Cognitive Function: Anatomical Evidence from a Transdiagnostic Sample

Multiple lines of evidence across human functional, lesion, and animal data point to a cerebellar role, in particular of crus I, crus II, and lobule VIIB, in cognitive function. However, a mapping of distinct facets of cognitive function to cerebellar stru ...

New York2023

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Nicolas Jean Philippe Guex

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...

2023

Late post‐natal neurometabolic development in healthy male rats using 1 H and 31 P Magnetic Resonance Spectroscopy

Rolf Gruetter, Cristina Ramona Cudalbu, Dunja Simicic, Veronika Rackayová, Guillaume Donati

Brain metabolism evolves rapidly during early post‐natal development in the rat. While changes in amino acids, energy metabolites, antioxidants or metabolites involved in phospholipid metabolism have been reported in the early stages, neurometabolic change ...

2021

Uncontrolled manifold analysis of the effects of a perturbation-based training on the organization of leg joint variance in cerebellar ataxia

Silvestro Micera

Walking patterns of persons affected by cerebellar ataxia (CA) are characterized by wide stride-to-stride variability ascribable to: the background pathology-related sensory-motor noise; the motor redundancy, i.e., an excess of elemental degrees of freedom ...

SPRINGER2020

Metabolic and hemodynamic changes in the activated human brain and cerebellar organisation measured by MRS/MRl at 7 Tesla

Yohan Boillat

Although less often investigated than the positive blood-oxygen-level-dependent (BOLD) signal, a negative BOLD signal has also been observed under certain conditions, which could have a neuronal origin. To further investigate the negative BOLD signal from ...

EPFL2020

Consensus Paper: Experimental Neurostimulation of the Cerebellum

Traian Popa

The cerebellum is best known for its role in controlling motor behaviors. However, recent work supports the view that it also influences non-motor behaviors. The contribution of the cerebellum towards different brain functions is underscored by its involve ...

Springer2019

Effects of repeated waist-pull perturbations on gait stability in subjects with cerebellar ataxia

Silvestro Micera

Background: Damage to the cerebellum can affect neural structures involved in locomotion, causing gait and balance disorders. However, the integrity of cerebellum does not seem to be critical in managing sudden and unexpected environmental changes such as ...

BMC2019

Mechanics of very slow human walking

Auke Ijspeert, Amy Roning Wu, Cole Stewart Simpson

Human walking speeds can be influenced by multiple factors, from energetic considerations to the time to reach a destination. Neurological deficits or lower-limb injuries can lead to slower walking speeds, and the recovery of able-bodied gait speed and beh ...

Springer2019

Surface-based characteristics of the cerebellar cortex visualized with ultra-high field MRI

Wietske Van der Zwaag, Cristina Granziera, Guillaume Bonnier, Mario Joao Fartaria de Oliveira, Kieran O'Brien, Yohan Boillat

Although having a relatively homogeneous cytoarchitectonic organization, the cerebellar cortex is a heterogeneous region characterized by different amounts of myelin, iron and protein expression profiles. In this study, we used quantitative T1 and T2* mapp ...

2018

Restoring Motor Functions After Stroke: Multiple Approaches and Opportunities

Friedhelm Christoph Hummel, Estelle Emeline Raffin

More than 1.5 million people suffer a stroke in Europe per year and more than 70% of stroke survivors experience limited functional recovery of their upper limb, resulting in diminished quality of life. Therefore, interventions to address upper-limb impair ...

2018

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