Publications associées à Cerebellar ataxia

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 ...

Springer2023

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

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 ...

SPRINGER2021

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 ...

BioMed Central2019

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 ...

Springer Nature2019

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

Matteo Dal Peraro, Deniz Aydin, Xiao Guo

The UbiB protein kinase-like (PKL) family is widespread, comprising one-quarter of microbial PKLs and five human homologs, yet its biochemical activities remain obscure. COQ8A (ADCK3) is a mammalian UbiB protein associated with ubiquinone (CoQ) biosynthesi ...

Cell Press2016

Multicontrast connectometry: A new tool to assess cerebellum alterations in early relapsing‐remitting multiple sclerosis

Jean-Philippe Thiran, Dimitri Nestor Alice Van De Ville, David Paul Roger Romascano, Alessandro Daducci, Cristina Granziera, Djalel Eddine Meskaldji, Jonas Richiardi, Gunnar Krüger, Alexis Roche, Guillaume Bonnier, Ying-Chia Lin, Gloria Menegaz

Background: Cerebellar pathology occurs in late multiple sclerosis (MS) but little is known about cerebellar changes during early disease stages. In this study, we propose a new multicontrast “connectometry” approach to assess the structural and functional ...

Wiley-Blackwell2015

On the Firing Rate Dependency of the Phase Response Curve of Rat Purkinje Neurons In Vitro

Michele Giugliano

Synchronous spiking during cerebellar tasks has been observed across Purkinje cells: however, little is known about the intrinsic cellular mechanisms responsible for its initiation, cessation and stability. The Phase Response Curve (PRC), a simple input-ou ...

Public Library Science2015

Duration of Purkinje cell complex spikes increases with their firing frequency

Michele Giugliano

Climbing fiber (CF) triggered complex spikes (CS) are massive depolarization bursts in the cerebellar Purkinje cell (PC), showing several high frequency spikelet components (+/- 600 Hz). Since its early observations, the CS is known to vary in shape. In th ...

Frontiers Research Foundation2015

Diffusion Spectrum Imaging Shows the Structural Basis of Functional Cerebellar Circuits in the Human Cerebellum In Vivo

Reto Meuli, Cristina Granziera, Nouchine Hadjikhani, Van Jay Wedeen

Background: The cerebellum is a complex structure that can be affected by several congenital and acquired diseases leading to alteration of its function and neuronal circuits. Identifying the structural bases of cerebellar neuronal networks in humans in vi ...

2009