The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency
This study was a crossover case study. The subject, a girl aged 12 years old, received NALL at a dose of 3 g/day (1 g in the morning, 1 g in the afternoon, and 1 g in the evening). A fasting blood sample was taken from the subject to evaluate side effects before the intervention and 4 weeks after taking supplement/placebo in every study stage. The ataxia mov ing symptoms were evaluated using the Scale for the Assessment and Rating of Ataxia (SARA) score in every study stage. Dietary intake was measured using 24-h dietary recall before and after the intervention. The diet compositions were assessed by Nutritionist IV...
Source: The Cerebellum - December 9, 2022 Category: Neurology Source Type: research
Examination of Cerebellar Grey-Matter Volume in Children with Neurodevelopmental Disorders: a Coordinated Analysis Using the ACAPULCO Algorithm
AbstractAlterations in cerebellar morphology relative to controls have been identified in children with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and developmental coordination disorder (DCD). However, it is not clear if common cerebellar regions are affected in each neurodevelopmental disorder and whether cerebellar morphological changes reflect a generic developmental vulnerability, or disorder-specific characteristic. The present study concatenated anatomical MRI scans from five existing cohorts, resulting in data from 252 children between the age of 7 and 12 years (ASD = 58,...
Source: The Cerebellum - December 9, 2022 Category: Neurology Source Type: research
Effects of Transcranial Direct Current Stimulation (t-DCS) of the Cerebellum on Pain Perception and Endogenous Pain Modulation: a Randomized, Monocentric, Double-Blind, Sham-Controlled Crossover Study
Abstract
Accumulating evidence demonstrates a role of the cerebellum in nociception. Some studies suggest that this is mediated via endogenous pain modulation. Here, we used t-DCS to test the effects of modulation of cerebellar function on nociception and endogenous pain modulation. Anodal, cathodal, and sham cerebellar t-DCS were investigated in a cross-over design in 21 healthy subjects. The nociceptive flexor (RIII) reflex, conditioning pain modulation (CPM), and offset analgesia (OA) paradigms were used to assess endogenous pain modulation. Somatosensory evoked potentials (SEPs) and pain ratings were used to assess ...
Source: The Cerebellum - December 8, 2022 Category: Neurology Source Type: research
Cerebellar Degeneration Impairs Strategy Discovery but Not Strategy Recall
AbstractThe cerebellum is recognized to play a critical role in the automatic and implicit process by which movement errors are used to keep the sensorimotor system precisely calibrated. However, its role in other learning processes frequently engaged during sensorimotor adaptation tasks remains unclear. In the present study, we tested the performance of individuals with cerebellar degeneration on a variant of a visuomotor adaptation task in which learning requires the use of strategic re-aiming, a process that can nullify movement errors in a rapid and volitional manner. Our design allowed us to assess two components of t...
Source: The Cerebellum - December 5, 2022 Category: Neurology Source Type: research
Correction to: Clinical trial-ready patient cohorts for multiple system atrophy: coupling biospecimen and iPSC banking to longitudinal deep-phenotyping
(Source: The Cerebellum)
Source: The Cerebellum - December 2, 2022 Category: Neurology Source Type: research
Quantification of Upper Limb Movements in Patients with Hereditary or Idiopathic Ataxia
We examined 19 patients with degenerative ataxia and 21 healthy controls. An ad hoc system comprising a touch screen, an accelerometer, and a gyroscope was used to measure speed, angular acceleration, consistency, and accuracy of upper limb movements. The movements were quantified during finger-to-nose test that the patients were asked to perform at their own pace and as fast as possible. Disease severity was estimated by using the Scale for the Assessment and Rating of Ataxia (SARA). The mean SARA score of the patients was 13.5. Compared to the controls the performance of the patients was slow (p < 0.001) and arrh...
Source: The Cerebellum - October 21, 2022 Category: Neurology Source Type: research
Gene Expression Analysis of Laser-Captured Purkinje Cells in the Essential Tremor Cerebellum
AbstractEssential tremor (ET) is a common, progressive neurological disease characterized by an 8 –12-Hz kinetic tremor. Despite its high prevalence, the patho-mechanisms of tremor in ET are not fully known. Through comprehensive studies in postmortem brains, we identified major morphological changes in the ET cerebellum that reflect cellular damage in Purkinje cells (PCs), suggesting that PC damage is central to ET pathogenesis. We previously performed a transcriptome analysis in ET cerebellar cortex, identifying candidate genes and several dysregulated pathways. To directly target PCs, we purified RNA from PCs isolated...
Source: The Cerebellum - October 15, 2022 Category: Neurology Source Type: research
Suppression of Motor Sequence Learning and Execution Through Anodal Cerebellar Transcranial Electrical Stimulation
We examined the effects of anodal TDCS during motor sequence learning in 60 healthy participants, randomly allocated to CB-TDCS, M1-TDCS, or Sham stimulation groups during a serial reaction time task. Key to the design was an equal number of repeated and random sequences. Reaction times (RTs) to implicitly learned and random sequences were compared between groups using ANOVAs and post hoct-tests. A speed –accuracy trade-off was excluded by analogous analysis of accuracy scores. An interaction was observed between whether responses were to learned or random sequences and the stimulation group. Post hoc analyses revealed a...
Source: The Cerebellum - October 14, 2022 Category: Neurology Source Type: research
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
We report a case in which a novel de novoKIF1A mutation was identified in a patient with ataxia, intellectual disability and mild foot deformity.A patient presented with sporadic forms of ataxia with mild foot deformity, intellectual disability, peripheral neuropathy, pyramidal signs, and orthostatic hypotension. WES was used to identify a novel de novo mutation inKIF1A, a known causative gene of neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment syndrome (NESCAVS).We report a novel phenotype of NESCAVS that is associated with a novel de novo missense mutation inKIF1A, which p...
Source: The Cerebellum - October 13, 2022 Category: Neurology Source Type: research
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients
The objective is to delineate the mechanisms underlying the core cerebellar phenotype in this disease. For this, we generated constitutive (Ptrh2LoxPxhCMVCre, Ptrh2−/− mice) and Purkinje cell (PC) specific (Ptrh2LoxPxPcp2Cre, Ptrh2ΔPCmice)Ptrh2 mutant mouse models and investigated the effect of the loss ofPtrh2 on cerebellar development. We show thatPtrh2−/− knockout mice had severe postnatal runting and lethality by postnatal day 14.Ptrh2ΔPC PC specific knockout mice survived until adult age; however, they showed progressive cerebellar atrophy and functional cerebellar deficits with abnormal gait and ataxia. PCs...
Source: The Cerebellum - October 11, 2022 Category: Neurology Source Type: research
Differences in Olivo-Cerebellar Circuit and Cerebellar Network Connectivity in Essential Tremor: a Resting State fMRI Study
AbstractThe olivo-cerebellar circuit is thought to play a crucial role in the pathophysiology of essential tremor (ET). Whether olivo-cerebellar circuit dysfunction is also present at rest, in the absence of clinical tremor and linked voluntary movement, remains unclear. Assessing this network in detail with fMRI is challenging, considering the brainstem is close to major arteries and pulsatile cerebrospinal fluid –filled spaces obscuring signals of interest. Here, we used methods tailored to the analysis of infratentorial structures. We hypothesize that the olivo-cerebellar circuit shows altered intra-network connectivi...
Source: The Cerebellum - October 10, 2022 Category: Neurology Source Type: research
French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia
This study aimed to translate and adapt the SARA into French. The translation process was conducted according to the ISPOR guidelines for the translation and cultural adaptation process for patient-reported outcomes. A total of five translators, an expert committee, and two physiotherapists took part in the process to assess and ensure comprehension and language equivalences of the final French version. A few misinterpretations were pointed out during the translation process and were changed accordingly by the translation team. The French version of the SARA is ready to be used in clinical and research settings with French...
Source: The Cerebellum - October 8, 2022 Category: Neurology Source Type: research
Systematic Review and Meta-analysis of Language Symptoms due to Cerebellar Injury
In this study, we present the first systematic review of the diverse language symptoms in spoken language after cerebellar lesion that were reported in case studies for the last 30 years (18 clinical cases from 13 papers), and meta-analysis using cluster analysis with bootstrap and symptom co-occurrence analysis. Seven clusters of patients with similar language symptoms after cerebellar lesions were found. Co-occurrence analysis revealed pairs of symptoms that tend to be com orbid. Our results imply that the “linguistic cerebellum” has a multiform contribution to language function. The most possible mechanism of such...
Source: The Cerebellum - October 7, 2022 Category: Neurology Source Type: research
Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping
We present 38 iPSC lines derived from MSA patients and relevant disease controls (spinocerebellar ataxia and PD, including alpha-synuclein triplication cases), 22 matched to whole-genome sequenced postmortem brain. iPSC models may facilitate matching patients to appropriate therapies, particularly in heterogeneous diseases for which patient-specific biology may elude animal models. We anticipate that deeply phenotyped and genotyped patient cohorts matched to cellular models will increase the likelihood of success in clinical trials for MSA. (Source: The Cerebellum)
Source: The Cerebellum - October 3, 2022 Category: Neurology Source Type: research
Hernias of the Cerebellum
AbstractThe presentCerebellar Classic highlights a paper published in 1908 by the American pathologist Simeon Burt Wolbach (1880 –1954), in which he reported multiple hernias of the cerebellum for the first time in 9 cases of increased intracranial pressure. The importance of the meninges and the anatomy of involved compartments is emphasized. (Source: The Cerebellum)
Source: The Cerebellum - September 29, 2022 Category: Neurology Source Type: research
