Disease Mechanisms of Multiple System Atrophy: What a Parallel Between the Form of Pasta and the Alpha-Synuclein Assemblies Involved in MSA and PD Tells Us
AbstractIntracellular deposits rich in aggregated alpha-synuclein that appear within the central nervous system are intimately associated to Parkinson ’s disease and multiple system atrophy. While it is understandable that the aggregation of proteins, which share no primary structure identity, such as alpha-synuclein and tau protein, leads to different diseases, that of a given protein yielding distinct pathologies is counterintuitive. This shor t review relates molecular and mechanistic processes to the observed pathological diversity associated to alpha-synuclein aggregation. (Source: The Cerebellum)
Source: The Cerebellum - June 3, 2022 Category: Neurology Source Type: research
Cerebello-basal Ganglia Networks and Cortical Network Global Efficiency
AbstractThe cerebellum (CB) and basal ganglia (BG) each have topographically distinct functional subregions that are functionally and anatomically interconnected with cortical regions through discrete thalamic loops and with each other via disynaptic connections, with previous work detailing high levels of functional connectivity between these phylogenetically ancient regions. It was posited that this CB-BG network provides support for cortical systems processing, spanning cognitive, emotional, and motor domains, implying that subcortical network measures are strongly related to cortical network measures (Bostan& Stric...
Source: The Cerebellum - June 3, 2022 Category: Neurology Source Type: research
Episodic Ataxia Type 1: Natural History and Effect on Quality of Life
AbstractEpisodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations inKCNA1. Patients have childhood onset of intermittent attacks of ataxia, dizziness or imbalance. In order to quantify the natural history of EA1, its effect on quality of life and in preparation for future clinical trials, we set up an international multi-centre study of EA1. We recruited thirty-three participants with EA1: twenty-three completed 1-year follow-up and eighteen completed 2-year follow-up. There was very little accumulation of disability or impairment over the course of the 2 years of the study. The outcome m...
Source: The Cerebellum - June 3, 2022 Category: Neurology Source Type: research
The posterior cerebellum and social action sequences in a cooperative context
In conclusion, these findings confirm the crucial role of the posterior cerebellum in memorizing social action sequences and extend the cerebellar function in identifying inconsistencies in an individual ’s actions in a social collaborative context. (Source: The Cerebellum)
Source: The Cerebellum - June 1, 2022 Category: Neurology Source Type: research
ANO10 Function in Health and Disease
AbstractAnoctamin 10 (ANO10), also known as TMEM16K, is a transmembrane protein and member of the anoctamin family characterized by functional duality. Anoctamins manifest ion channel and phospholipid scrambling activities and are involved in many physiological processes such as cell division, migration, apoptosis, cell signalling, and developmental processes. Several diseases, including neurological, muscle, blood disorders, and cancer, have been associated with the anoctamin family proteins. ANO10, which is the main focus of the present review, exhibits both scrambling and chloride channel activity; calcium availability ...
Source: The Cerebellum - June 1, 2022 Category: Neurology Source Type: research
Correction to: Translation, Cross-Cultural Adaptation, and Validation to Brazilian Portuguese of the Cerebellar Cognitive Affective/Schmahmann Syndrome Scale
(Source: The Cerebellum)
Source: The Cerebellum - May 30, 2022 Category: Neurology Source Type: research
M1 and Cerebellar tDCS for MSA-C: a Double-Blind, Randomized, Sham-Controlled, Crossover Study
This study aimed to investigate the effect of tDCS on the primary motor cortex (M1) and cerebellum in patients with MSA-C. We recruited probable MSA-C patients and performed three single sessions of tDCS at each visit in random order (M1, cerebellum or sham). Cerebellar ataxia was evaluated with the International Cooperative Ataxia Rating Scale (ICARS) and objective gait and static balance analyses both before and after each stimulation session. Additionally, we also evaluated the factors related with objective improvement from each stimulation. Sixteen participants were enrolled, and one dropped out after 2 sessions of st...
Source: The Cerebellum - May 28, 2022 Category: Neurology Source Type: research
Autoimmune Cerebellar Ataxia: Etiology and Clinical Characteristics of a Case Series from China
This study reported a large ACA series in China and described its etiology and clinical characteristics. We reviewed all ACA patients from our hospital (2013 –2021) and analyzed their clinical and paraclinical features, treatment, and outcome. ACA subtypes investigated included paraneoplastic cerebellar degeneration (PCD), primary autoimmune cerebellar ataxia (PACA), anti-glutamate decarboxylase (GAD)–associated cerebellar ataxia, opsoclonus-myoclonu s syndrome (OMS), Miller Fisher syndrome (MFS), and ACA-associated with autoimmune encephalitis. A total of 127 patients were identified and 40.9% were male. The median on...
Source: The Cerebellum - May 26, 2022 Category: Neurology Source Type: research
Symptomatic Care in Multiple System Atrophy: State of the Art
AbstractWithout any disease-modifying treatment strategy for multiple system atrophy (MSA), the therapeutic management of MSA patients focuses on a multidisciplinary strategy of symptom control. In the present review, we will focus on state of the art treatment in MSA and additionally give a short overview about ongoing randomized controlled trials in this field. (Source: The Cerebellum)
Source: The Cerebellum - May 17, 2022 Category: Neurology Source Type: research
Cell-Autonomous Processes That Impair Xenograft Survival into the Cerebellum
AbstractIn immunocompetent animals, numerous factors including the immune system of the host regulate the survival of neuro-glial precursors transplanted into the cerebellum. We transplanted human neuro-glial precursors derived in vitro from partial differentiation of IPS cells into the developing cerebellum of mice and rats before maturation of the host immune system. These approaches should facilitate the development of immune-tolerance for the transplanted cells. However, we found that human cells survived the engraftment and integrated into the host cerebellum and brain stem up to about 1 month postnatally when they ...
Source: The Cerebellum - May 16, 2022 Category: Neurology Source Type: research
Posterior Fossa Sub-Arachnoid Cysts Observed in Patients with Bipolar Disorder: a Retrospective Cohort Study
In this report, we detail the cases of the five patients with bipolar disorder who presented with PFACs. Additionally, we compare neuropsychiatric measures and cerebellar volumes of these patients to neuronormative controls and bipolar controls (those with bipolar disorder without neuroanatomical abnormalities). Our findings suggest that patients with bipolar disorder who also present with PFACs may have a milder symptom constellation relative to patients with bipolar disorder and no neuroanatomical abnormalities. Furthermore, our observations align with prior literature suggesting an association between PFACs and psychiat...
Source: The Cerebellum - May 14, 2022 Category: Neurology Source Type: research
Consensus Paper: Strengths and Weaknesses of Animal Models of Spinocerebellar Ataxias and Their Clinical Implications
AbstractSpinocerebellar ataxias (SCAs) represent a large group of hereditary degenerative diseases of the nervous system, in particular the cerebellum, and other systems that manifest with a variety of progressive motor, cognitive, and behavioral deficits with the leading symptom of cerebellar ataxia. SCAs often lead to severe impairments of the patient ’s functioning, quality of life, and life expectancy. For SCAs, there are no proven effective pharmacotherapies that improve the symptoms or substantially delay disease progress, i.e., disease-modifying therapies. To study SCA pathogenesis and potential therapies, animal ...
Source: The Cerebellum - May 13, 2022 Category: Neurology Source Type: research
Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time
AbstractSpinocerebellar ataxias (SCAs) are a large group of hereditary neurodegenerative diseases characterized by ataxia and dysarthria. Due to high clinical and genetic heterogeneity, many SCA families are undiagnosed. Herein, using linkage analysis, WES, and RP-PCR, we identified the largest SCA36 pedigree in Asia. This pedigree showed some distinct clinical characteristics. Cognitive impairment and gaze palsy are common and severe in SCA36 patients, especially long-course patients. Although no patients complained of hearing loss, most of them presented with hearing impairment in objective auxiliary examination. Voxel-b...
Source: The Cerebellum - May 13, 2022 Category: Neurology Source Type: research
Long-Term Application of Cerebellar Transcranial Direct Current Stimulation Does Not Improve Motor Learning in Parkinson ’s Disease
AbstractCerebellar transcranial direct current stimulation (c-tDCS) enhances motor skill acquisition and motor learning in young and old adults. Since the cerebellum is involved in the pathophysiology of Parkinson ’s disease (PD), c-tDCS may represent an intervention with potential to improve motor learning in PD. The primary purpose was to determine the influence of long-term application of c-tDCS on motor learning in PD. The secondary purpose was to examine the influence of long-term application of c-tDCS on transfer of motor learning in PD. The study was a randomized, double-blind, SHAM-controlled, between-subjects de...
Source: The Cerebellum - May 13, 2022 Category: Neurology Source Type: research
The Theories of Gerbrandus Jelgersma (1859 –1942) on the Function of the Cerebellum
AbstractGerbrandus Jelgersma published extensively on the (pathological) anatomy of the cerebellum between 1886 and 1934. Based on his observations on the double innervation of the Purkinje cells, he formulated a hypothesis on the function of the cerebellum. Both afferent systems of the cerebellum, the mossy fiber-parallel fiber system and the climbing fibers terminate on the Purkinje cell dendrites. According to Jelgersma, the mossy fiber-parallel fiber system is derived from the pontine nuclei and the inferior olive, and would transmit the movement images derived from the cerebral cortex. Spinocerebellar climbing fibers ...
Source: The Cerebellum - May 13, 2022 Category: Neurology Source Type: research
