The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed.

Cerebellar Transcranial Direct Current Stimulation (ctDCS): A Novel Approach to Understanding Cerebellar Function in Health and Disease.

The cerebellum is critical for both motor and cognitive control. Dysfunction of the cerebellum is a component of multiple neurological disorders. In recent years, interventions have been developed that aim to excite or inhibit the activity and function of the human cerebellum.

Marked reduction of cerebellar deficits in upper limbs following transcranial cerebello-cerebral DC stimulation: tremor reduction and re-programming of the timing of antagonist commands.

Cerebellar ataxias represent a very heterogeneous group of disabling disorders for which we lack effective symptomatic therapies in most cases. There is currently an intense interest in the use of non-invasive transcranial DC stimulation (tDCS) to modulate the activity of the cerebellum in ataxic disorders. We performed a detailed laboratory assessment of the effects of transcranial cerebello-cerebral DC stimulation (tCCDCS, including a sham procedure) on upper limb tremor and dysmetria in 2 patients presenting a dominant spinocerebellar ataxia (SCA) type 2, one of the most common SCAs encountered during practice.

Functional impacts of exoskeleton-based rehabilitation in chronic stroke: multi-joint versus single-joint robotic training.

Stroke is a major cause of disability in the world. The activities of upper limb segments are often compromised following a stroke, impairing most daily tasks. Robotic training is now considered amongst the rehabilitation methods applied to promote functional recovery.

Is essential tremor a Purkinjopathy? The role of the cerebellar cortex in its pathogenesis.

Essential tremor (ET) encompasses a group of progressive neurological diseases in which the primary clinical feature is kinetic tremor of the arms. There is accumulating evidence to suggest that the cerebellum is involved in the pathogenesis of ET; the clinical presentation, neurophysiological data, and functional and metabolic abnormalities revealed by neuroimaging studies all point toward the dysregulation of cerebellar circuits. Recent neuropathological findings at postmortem demonstrate that Purkinje neurons, and some brainstem neurons, play an integral role in the pathogenesis of this common neurological disorder.

Augmented visual feedback counteracts the effects of surface muscular functional electrical stimulation on physiological tremor.

Background: Recent studies suggest that surface muscular functional electrical stimulation (FES) might suppress neurological upper limb tremor. We assessed its effects on upper limb physiological tremor, which is mainly driven by mechanical-reflex oscillations. We investigated the interaction between FES and augmented visual feedback, since (a) most daily activities are performed using visual cues, and (b) augmented visual feedback exacerbates upper limb tremor.

Anodal transcranial direct current stimulation (tDCS) decreases the amplitudes of long-latency stretch reflexes in cerebellar ataxia.

Recent studies suggest that the neuromodulation of the cerebellum using transcranial direct current stimulation (tDCS) could represent a new therapeutic strategy for the management of cerebellar disorders. Anodal tDCS of the cerebellum increases the excitability of the cerebellar cortex. We tested the effects of anodal tDCS applied over the cerebellum in ataxic patients.

Quality parameters for a multimodal EEG/EMG/kinematic brain-computer interface (BCI) aiming to suppress neurological tremor in upper limbs.

Tremor is the most common movement disorder encountered during daily neurological practice. Tremor in the upper limbs causes functional disability and social inconvenience, impairing daily life activities. The response of tremor to pharmacotherapy is variable.

A quality parameter for the detection of the intentionality of movement in patients with neurological tremor performing a finger-to-nose test.

The identification of the intentionality of movement is a key-aspect for the development of brain-computer interfaces (BCIs) applicable to daily life in neurological patients. We present a novel method of processing of electroencephalography (EEG) signals for the extraction of movement intention in neurological patients with upper limb tremor. This method is based on event-related EEG desynchronization, considering α (8-12 Hz), β (13-30 Hz), and γ (30-40 Hz) bands.

Topography of cerebellar deficits in humans.

The cerebellum is a key-piece for information processing and is involved in numerous motor and nonmotor activities, thanks to the anatomical characteristics of the circuitry, the enormous computational capabilities and the high connectivity to other brain areas. Despite its uniform cytoarchitecture, cerebellar circuitry is segregated into functional zones. This functional parcellation is driven by the connectivity and the anatomo-functional heterogeneity of the numerous extra-cerebellar structures linked to the cerebellum, principally brain cortices, precerebellar nuclei and spinal cord.

A new myohaptic instrument to assess wrist motion dynamically.

The pathophysiological assessment of joint properties and voluntary motion in neurological patients remains a challenge. This is typically the case in cerebellar patients, who exhibit dysmetric movements due to the dysfunction of cerebellar circuitry. Several tools have been developed, but so far most of these tools have remained confined to laboratories, with a lack of standardization.

Neurological tremor: sensors, signal processing and emerging applications.

Neurological tremor is the most common movement disorder, affecting more than 4% of elderly people. Tremor is a non linear and non stationary phenomenon, which is increasingly recognized. The issue of selection of sensors is central in the characterization of tremor.