The Diverse Neuromuscular Spectrum of VPS13A Disease
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Mapping quantal touch using 7 Tesla functional magnetic resonance imaging and single-unit intraneural microstimulation. [PDF]
Using ultra-high field 7 Tesla (7T) functional magnetic resonance imaging (fMRI), we map the cortical and perceptual responses elicited by intraneural microstimulation (INMS) of single mechanoreceptive afferent units in the median nerve, in humans ...
Ackerley +44 more
core +5 more sources
Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge +4 more
wiley +1 more source
Structure-function abnormalities in cortical sensory projections in embouchure dystonia
Background: Embouchure dystonia (ED) is a task-specific focal dystonia in professional brass players leading to abnormal orofacial muscle posturing/spasms during performance.
Tobias Mantel +7 more
doaj +1 more source
Noninvasive vagus nerve stimulation alters neural response and physiological autonomic tone to noxious thermal challenge. [PDF]
The mechanisms by which noninvasive vagal nerve stimulation (nVNS) affect central and peripheral neural circuits that subserve pain and autonomic physiology are not clear, and thus remain an area of intense investigation.
Baker, Dewleen G +13 more
core +2 more sources
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
All Talk and No Action: A Transcranial Magnetic Stimulation Study of Motor Cortex Activation During Action Word Production [PDF]
A number of researchers have proposed that the premotor and motor areas are critical for the representation of words that refer to actions, but not objects. Recent evidence against this hypothesis indicates that the left premotor cortex is more sensitive
Caramazza, Alfonso +5 more
core +1 more source
The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen +5 more
wiley +1 more source
What Disconnection Tells about Motor Imagery: Evidence from Paraplegic Patients [PDF]
Brain activation during motor imagery has been the subject of a large number of studies in healthy subjects, leading to divergent interpretations with respect to the role of descending pathways and kinesthetic feedback on the mental rehearsal of ...
Alkadhi, Hatem +6 more
core
Network Localization of Fatigue in Multiple Sclerosis
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo +12 more
wiley +1 more source

