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Objective: To evaluate the orofacial myofunctional characteristics, masticatory performance and facial thermal profile in individuals with Parkinson disease (PD) and spinocerebellar ataxia (SCA3), comparing with healthy control ones. Method: Seventy‐two participants aged between 30 and 85 years were evaluated and divided into PD, SCA3 and control groups. The assessments included clinical evaluation using the Orofacial Myofunctional Evaluation with Scores protocol (orofacial structures, mastication, swallowing and breathing aspects), masticatory performance assessed with a colour‐changeable chewing gum and infrared thermography. The Kruskal–Wallis, one‐way ANOVA and Wilcoxon tests were applied. Results: With the exception of face and tongue, a difference was seen in the cheek, maxillomandibular relationship, lips, mentalis muscle and palate appearance and posture between patients and healthy control participants. Orofacial mobility, swallowing and masticatory function also scored higher in the control group. The SCA3 and PD groups required more time to eat the test‐food and showed greater facial temperature asymmetries than the control one (p < 0.05). Masticatory performance measured by chewing gum did not differ. Conclusion: Facial temperature asymmetries, swallowing and masticatory function scores and the time needed by the SCA3 and PD groups to eat the test‐food were different from healthy participants, drawing attention to the impaired orofacial functions in patients with neurodegenerative disorders. [ABSTRACT FROM AUTHOR]

Background/Objectives: Cerebellar strokes account for only 2–3% of all strokes occurring annually in the United States but represent a disproportionally higher share of morbidity and mortality. Evidence examining the effect of inpatient rehabilitation on functional outcomes following a cerebellar stroke is limited. This study aimed to examine the effects of inpatient rehabilitation on balance and walking speed in individuals with cerebellar stroke. A secondary purpose of this study was to examine the length of inpatient rehabilitation stay of the included patients. Methods: A retrospective analysis was conducted using review of patient records during their inpatient rehabilitation stay from January 2021 to February 2022 at a large hospital system in the southeast United States. Balance and gait outcomes were examined on admission and discharge from inpatient rehabilitation that included physical therapy interventions. A paired t-test examined for changes in outcomes from admission to discharge. Pearson correlation examined for the association between length of stay and outcomes. Results: A total of 15 records were reviewed. There were significant improvements in the Berg Balance Scale (BBS), Postural Assessment Scale for Stroke (PASS), and the 10-Meter Walk Test (10MWT) (p's < 0.01) from admission to discharge with large effect sizes (range d = 0.70–1.67) following inpatient rehabilitation. The average length of stay was 12.67 days (SD = 6.5) and the mean total hours of combined occupational, physical, and speech therapy was 27.33 (SD = 6.52) h. There was a moderate association between length of stay and PASS (r = 0.525, p = 0.04) and BBS (r = 0.546, p = 0.04) outcomes. Conclusions: Patients who underwent inpatient rehabilitation following acute cerebellar strokes demonstrated improvements in balance and gait speed. Study results could assist clinicians designing interventions for patients with cerebellar strokes in the inpatient rehabilitation setting. [ABSTRACT FROM AUTHOR]

Background: Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disorder characterized by the formation of eosinophilic inclusions in the neurons, visceral and skin cells. The cause is associated with the GGC nucleotide repeat expansion in the NOTCH2NLC gene. The imaging hallmark of NIID is hyperintensities on diffusion-weighted imaging (DWI) at the corticomedullary junction. Clinical manifestations of NIID are highly heterogeneous. Here, we report a case of NIID presenting with acute-onset dementia and cortical edema. Case presentation: We describe an elderly male patient who presented with sudden dementia within a day. Considering the abrupt onset and the stroke history, we initially diagnosed vascular disease. However, further imaging revealed cortical edema in the temporo-parieto-occipital lobes. Blood and cerebrospinal fluid tests ruled out immunological, metabolic, infectious, or neoplastic etiologies. Genetic testing ultimately confirmed the diagnosis of NIID. Intravenous immunoglobulin (IVIG) therapy did not improve the patient's symptoms; However, about 1 month after treatment, spontaneous improvement was observed. It is noteworthy that 22 months before the onset of cognitive impairment, the patient's MRI for headaches already exhibited the typical imaging lesions of this disease in the cerebellum paravermal region. Conclusion: Patients with encephalopathy syndrome exhibiting imaging features resembling mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome or Creutzfeldt-Jakob disease should consider the NIID as differential diagnosis. Chronic headaches and symmetric lesions in the cerebellar paravermal region on MRI may be noteworthy indicators of NIID during non-episodic phases. [ABSTRACT FROM AUTHOR]

Posterior pituitary ectopia is a very rare entity in the development of the pituitary gland. Several factors and multiple genes are associated with this entity causing both pituitary and extrapituitary abnormalities. Pituitary abnormalities can be various endocrine problems and extrapituitary abnormalities can be optic nerves and cerebellar hypoplasia, heterotopia, and abnormal vessels. This pictorial review represents the imaging manifestations of extrapituitary intracranial anomalies that can be associated with posterior pituitary ectopia. [ABSTRACT FROM AUTHOR]

Managing genetic disease using medically assisted reproductive technology is increasingly promoted as a feasible option, given revolutionary advances in genomics. Far less attention has been directed to the issue of whether there is equitable access to this option. Context and circumstance determine equitable access; however, reporting has drawn overwhelmingly from affluent Anglo-western populations in developed countries. The experiences of poorer, less educated subpopulations within affluent countries and populations in less developed countries are underreported. The ability of consumers to understand the opportunities and risks of medically assisted reproductive technology is likewise not well described in the literature despite significant technological complexity and evidence that genetic disease may be overrepresented within some disadvantaged population groups. Equity is achieved by identifying barriers and allocating appropriate resources to enable understanding and access. In the case of utilising medically assisted technology, social and power relationships, regulations, and the presumptions of authority figures and policymakers reduce equitable access. Physical or cultural marginalisation from mainstream health services may result in reduced access to genetic and prenatal testing, in-vitro fertilisation and genetic screening of embryos necessary for medically assisted reproduction. Cost and regulatory frameworks can likewise limit opportunities to engage with services. Moreover, the quality of the information provided to prospective users of the technology and how it is received governs understanding of prevention and inhibits adequately informed choice. Best practice care and adequately informed choice can only be achieved by conscientiously attending to these accessibility issues. Deep engagement with at-risk people and critical reflection on mainstream accepted standpoints is required. This paper outlines issues associated with engaging with medically assisted reproduction encountered by Aboriginal families living with Machado-Joseph Disease in some of the most remote areas of Australia. It is the right of these families to access such technologies regardless of where they live. Current barriers to access raise important questions for service providers with implications for practice as new technologies increasingly become part of standard medical care. [ABSTRACT FROM AUTHOR]

Parkinson disease (PD) is a neurodegenerative disorder that causes motor and cognitive deficits, presenting complex challenges for therapeutic interventions. Repetitive transcranial magnetic stimulation (rTMS) is a type of neuromodulation that can produce plastic changes in neural activity. rTMS has been trialed as a therapy to treat motor and non-motor symptoms in persons with Parkinson disease (PwP), particularly treatment-refractory postural instability and gait difficulties such as Freezing of Gait (FoG), but clinical outcomes have been variable. We suggest improving rTMS neuromodulation therapy for balance and gait abnormalities in PwP by targeting brain regions in cognitivemotor control networks. rTMS studies in PwP often targeted motor targets such as the primary motor cortex (M1) or supplementary motor area (SMA), overlooking network interactions involved in posture-gait control disorders. We propose a shift in focus toward alternative stimulation targets in basal gangliacortex- cerebellum networks involved in posture-gait control, emphasizing the dorsolateral prefrontal cortex (dlPFC), cerebellum (CB), and posterior parietal cortex (PPC) as potential targets. rTMS might also be more effective if administered during behavioral tasks designed to activate posture-gait control networks during stimulation. Optimizing stimulation parameters such as dosage and frequency as used clinically for the treatment of depression may also be useful. A network-level perspective suggests new directions for exploring optimal rTMS targets and parameters to maximize neural plasticity to treat postural instabilities and gait difficulties in PwP. [ABSTRACT FROM AUTHOR]

The article describes the case of a 59-year old Japanese man diagnosed with cerebellar cognitive affective syndrome (CCAS) caused by cerebellar atrophy associated with Wallerian degeneration after pontine haemorrhage. The patient demonstrated psychiatric symptoms, slow gait, configuration apraxia, cognitive and motor decline, decline in intelligence quotient and function. Symptoms of CCAS include motor deficits, decreased blood flow in the posterior cerebellar lobes and functional impairment.

Amplitude-based exercise training has been shown to be effective in the motor performance of individuals with idiopathic Parkinson's disease, with limited research investigating its effects on Parkinson plus syndromes such as olivopontocerebellar atrophy (OPCA). The purpose of this clinical case report is to examine the effects of amplitude-based training exercises on an individual with OPCA. A 68-year-old man with a 14-month history of OPCA presented to physical therapy with bradykinesia, rigidity, and postural instability. The individual participated in 34 intervention sessions. Pre- and post-test measurements were collected for the following outcome measures: Five Times Sit to Stand (FTSTS); Functional Gait Assessment (FGA); Activities-Specific Balance Confidence Scale (ABC-6); 9 Hole Peg Test (9HPT); preferred and maximal gait speed. Improvements reaching Minimum Detectable Change (MDC) or Minimal Clinically Important Difference (MCID) were recorded with a pre (Week 1) and post (Week 20) intervention: FGA score (4-point improvement (MDC95 = 4 points), preferred gait speed (0.09 meters/second improvement (MCID = 0.05 meters/second)), FTSTS (6-second improvement (MDC95 = 2.3 seconds)), and 9HPT on the dominant hand (3-second improvement (MDC95 = 2.6 seconds)). Fluctuations during the plan of care were observed for these measures, and additional outcomes did not demonstrate a worsening of function. In an individual with OPCA, amplitude-based exercise training as a component of the plan of care increased dynamic balance in walking, gait speed, and hand dexterity. However, these results need to be validated on a larger sample of individuals with OPCA through randomized controlled trials. [ABSTRACT FROM AUTHOR]

Cerebellar impairment (CI) manifests from different etiologies resulting in a heterogenic clinical presentation affecting walking and mobility. Case-reports were reviewed to provide an analytical clinical picture of persons with CI (PwCI) to differentiate cerebellar and non-cerebellar impairments and to identify interventions and assessments used to quantify impact on walking and mobility according to the International Classification of Functioning, Disability and Health (ICF). Literature was searched in PubMed, Web Of Science and Scopus. Case-reports conducting physical rehabilitation and reporting at least one outcome measure of ataxia, gait pattern, walking or mobility were included. 28 articles with a total of 38 different patients were included. Etiologies were clustered to: spinocerebellar degenerations, traumatic brain injuries, cerebellar tumors, stroke and miscellaneous. The interventions applied were activity-based, including gait and balance training. Participation based activities such as tai chi, climbing and dance-based therapy had positive outcomes on mobility. Outcomes on body function such as ataxia and gait pattern were only reported in 22% of the patients. A comprehensive test battery to encompass the key features of a PwCI on different levels of the ICF is needed to manage heterogeneity. Measures on body function level should be included in interventions. This review reports on 38 cerebellar cases from 14 different aetiologies. Distinguishing cerebellar and non-cerebellar symptoms and categorising patients within the three cerebellar syndromes can assist with heterogeneity. Reporting of assessment on the body function level of ICF in terms of ataxia and gait pattern was only present in a minority of reports and thus increased reporting is encouraged. Multimodal and patient-tailored strategies are promising for targeting walking and mobility in persons with cerebellar impairment. [ABSTRACT FROM AUTHOR]

Autism spectrum disorders (ASDs) are complex neurodevelopmental conditions characterized by deficits in social interaction and communication, as well as repetitive behaviors. Although the etiology of ASD is multifactorial, with both genetic and environmental factors contributing to its development, a strong genetic basis is widely recognized. Recent research has identified numerous genetic mutations and genomic rearrangements associated with ASD-characterizing genes involved in brain development. Alterations in developmental programs are particularly harmful during critical periods of brain development. Notably, studies have indicated that genetic disruptions occurring during the second trimester of pregnancy affect cortical development, while disturbances in the perinatal and early postnatal period affect cerebellar development. The developmental defects must be viewed in the context of the role of the cerebellum in cognitive processes, which is now well established. The present review emphasizes the genetic complexity and neuropathological mechanisms underlying ASD and aims to provide insights into the cerebellar involvement in the disorder, focusing on recent advances in the molecular landscape governing its development in humans. Furthermore, we highlight when and in which cerebellar neurons the ASD-associated genes may play a role in the development of cortico–cerebellar circuits. Finally, we discuss improvements in protocols for generating cerebellar organoids to recapitulate the long period of development and maturation of this organ. These models, if generated from patient-induced pluripotent stem cells (iPSC), could provide a valuable approach to elucidate the contribution of defective genes to ASD pathology and inform diagnostic and therapeutic strategies. [ABSTRACT FROM AUTHOR]

The cerebellum is crucial for both motor and nonmotor functions. Alzheimer's disease (AD), alongside other dementias such as vascular dementia (VaD), Lewy body dementia (DLB), and frontotemporal dementia (FTD), as well as other neurodegenerative diseases (NDs) like Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), and spinocerebellar ataxias (SCA), are characterized by specific and non‐specific neurodegenerations in central nervous system. Previously, the cerebellum's significance in these conditions was underestimated. However, advancing research has elevated its profile as a critical node in disease pathology. We comprehensively review the existing evidence to elucidate the relationship between cerebellum and the aforementioned diseases. Our findings reveal a growing body of research unequivocally establishing a link between the cerebellum and AD, other forms of dementia, and other NDs, supported by clinical evidence, pathological and biochemical profiles, structural and functional neuroimaging data, and electrophysiological findings. By contrasting cerebellar observations with those from the cerebral cortex and hippocampus, we highlight the cerebellum's distinct role in the disease processes. Furthermore, we also explore the emerging therapeutic potential of targeting cerebellum for the treatment of these diseases. This review underscores the importance of the cerebellum in these diseases, offering new insights into the disease mechanisms and novel therapeutic strategies. [ABSTRACT FROM AUTHOR]

Objectives: The goal of our study was to determine the incidence of cerebellar atrophy, assess the imaging findings in the posterior fossa and determine the incidence of hippocampal sclerosis in a cohort of pediatric patients with confirmed tuberous sclerosis complex (TSC). Material and methods: MRI studies of 98 TSC pediatric patients (mean age 7.67 years) were evaluated for cerebellar atrophy, cerebral/cerebellar tubers, white matter lesions, subependymal nodules, subependymal giant cell astrocytomas, ventriculomegaly, and hippocampal sclerosis. Clinical charts were revisited for clinical symptoms suggesting cerebellar involvement, for seizures and treatment for seizures, behavioral disorders and autism. Results: Cerebral tubers were present in 97/98 cases. In total, 97/98 had subependymal nodules, 15/98 had SEGA, 8/98 had ventriculomegaly and 4/98 had hippocampal sclerosis. Cerebellar tubers were found in 8/98 patients (8.2%), whereas cerebellar atrophy was described in 38/98 cases (38.8%). In 37/38 patients, cerebellar volume loss was mild and diffuse, and only one case presented with left hemi-atrophy. Briefly, 32/38 presented with seizures and were treated with anti-seizure drugs. In total, 8/38 (21%) presented with behavioral disorders, 10/38 had autism and 2/38 presented with seizures and behavioral disorders and autism. Conclusions: Several studies have demonstrated cerebellar involvement in patients with TSC. Cerebellar tubers differ in shape compared with cerebral tubers and are associated with cerebellar volume loss. Cerebellar atrophy may be focal and diffuse and one of the primary cerebellar manifestations of TSC, especially if a TSC2 mutation is present. Cerebellar degeneration may, however, also be secondary/acquired due to cellular damage resulting from seizure activity, the effects of anti-seizure drugs and anoxic–ischemic injury from severe seizure activity/status epilepticus. Further, prospective studies are required to identify and establish the pathogenic mechanism of cerebellar atrophy in patients with TSC. [ABSTRACT FROM AUTHOR]

The morphology and function of the cerebellum are associated with various developmental disorders and healthy aging. Changes in cerebellar morphology during the aging process have been extensively investigated, with most studies focusing on changes in cerebellar regional volume. The volumetric method has been used to quantitatively demonstrate the decrease in the cerebellar volume with age, but it has certain limitations in visually presenting the morphological changes of cerebellar atrophy from a three-dimensional perspective. Thus, we comprehensively described cerebellar morphological changes during aging through volume measurements of subregions and shape analysis. This study included 553 healthy participants aged 20-80 years. A novel cerebellar localized segmentation algorithm based on convolutional neural networks was utilized to analyze the volume of subregions, followed by shape analysis for localized atrophy assessment based on the cerebellar thickness. The results indicated that out of the 28 subregions in the absolute volume of the cerebellum, 15 exhibited significant aging trends, and 16 exhibited significant sex differences. Regarding the analysis of relative volume, only 11 out of the 28 subregions of the cerebellum exhibited significant aging trends, and 4 exhibited significant sex differences. The results of the shape analysis revealed region-specific atrophy of the cerebellum with increasing age. Regions displaying more significant atrophy were predominantly located in the vermis, the lateral portions of bilateral cerebellar hemispheres, lobules I-III, and the medial portions of the posterior lobe. This atrophy differed between sexes. Men exhibited slightly more severe atrophy than women in most of the cerebellar regions. Our study provides a comprehensive perspective for observing cerebellar atrophy during the aging process. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15. [ABSTRACT FROM AUTHOR]

Objective To analyze the clinical characteristics of anti-neuronal antibody positive paraneoplastic neurological syndrome related to immune checkpoint inhibitors (ICI-PNS). Methods and Results A total of 5 patients with anti-neuronal antibody positive ICI-PNS in Peking Union Medical College Hospital from January 2012 to March 2024 were included. Tumor types included small cell lung cancer (2 cases), malignant melanoma (one case), Hodgkin lymphoma (one case) and cervical cancer (one case). Immune checkpoint inhibitors (ICIs) included programmed death 1 (PD-1) inhibitors (3 cases), programmed cell death ligand 1 (PD-L1) inhibitors (one case) and bispecific PD-1/cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) inhibitors (one case). All 5 patients presented with high-risk neurologic phenotypes of paraneoplastic neurological syndrome (PNS), of which 4 presented with limbic encephalitis and one presented with rapidly progressive cerebellar syndrome. Anti-neuronal antibodies detected in serum and/or cerebrospinal fluid of patients included anti-Hu, γ-aminobutyric acid receptor type B (GABABR), sex-determining region of Y chromosome-related high mobility group box 1 (SOX1), metabotropic glutamate receptor 5 (mGluR5) and Yo antibodies. Neurological syndromes occurred within 2 weeks after receiving ICIs in 4 patients. The modified Rankin Score (mRS) of 4 patients was 3 at peak of illness, and one patient was 5 at peak of illness. The Common Terminology Criteria for Adverse Events (CTCAE) was grade 3 in all 5 patients. After withdrawal of ICIs and treatment with glucocorticoids and intravenous immunoglobulin (IVIg), the neurological symptoms of the patients were improved. Conclusions High/intermediate-risk anti-neuronal antibodies are diagnostic markers of ICI-PNS. Evaluation of ICI-PNS clinical phenotypes and CTCAE grading are important for immunotherapy. Discontinuation of ICIs, administration of glucocorticoids and IVIg can improve the prognosis of patients. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxias (SCAs) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. While there is variable involvement of corticospinal tracts (CST), dorsal root ganglia, and motor neurons in SCA3, SCA6 is characterized by a pure, late-onset ataxia. Abnormal intermuscular coherence in the beta-gamma frequency range (IMCβγ) implies a lack of integrity of CST or the afferent input from the acting muscles. We test the hypothesis that IMCβγ has the potential to be a biomarker of disease activity in SCA3 but not SCA6. Intermuscular coherence between biceps brachii and brachioradialis muscles was measured from surface EMG waveforms in SCA3 (N = 16) and SCA6 (N = 20) patients and in neurotypical subjects (N = 23). IMC peak frequencies were present in the β range in SCA patients and in the γ range in neurotypical subjects. The difference between IMC amplitudes in the γ and β ranges was significant when comparing neurotypical control subjects to SCA3 (p < 0.01) and SCA6 (p = 0.01) patients. IMCβγ amplitude was smaller in SCA3 patients compared to neurotypical subjects (p < 0.05), but not different between SCA3 and SCA6 patients or between SCA6 and neurotypical subjects. IMC metrics can differentiate SCA patients from normal controls. [ABSTRACT FROM AUTHOR]

PTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer. Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the cerebellum or Lhermitte‐Duclos disease). Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children. In addition, rare PTEN variants are indeed identified in medulloblastoma as well, even if they are less frequent than other germline gene mutations. The importance of PTEN and its downstream signalling enzymatic pathways, PI3K/AKT/mTOR, has been studied at different levels in both human clinical settings and animal models, not only leading to a better understanding of the pathogenesis of different disorders but, most importantly, to identify potential targets for specific therapies. In particular, PTEN integrity makes an important contribution to the normal development of tissue architecture in the nervous system, including the cerebellum. Thus, in patients with PTEN germline mutations, the cerebellum is an affected organ that is increasingly recognised in different disorders, whereas, in animal models, cerebellar Pten loss causes a variety of functional and histological alterations. In this review, we summarise the range of cerebellar involvement observed in PHTS and its relationships with germline PTEN mutations, along with the phenotypes expressed by murine models with PTEN deficiency in cerebellar tissue. PTEN hamartoma tumour syndrome (PHTS), due to an inherited PTEN pathogenetic variant, is characterised by macrocephaly, multiple hamartomas and an increased risk of cancer. In this review, we focused on the different phenotypes that involve the cerebellum in PHTS patients. Specifically, dysplastic gangliocytoma of the cerebellum, also known as Lhermitte–Duclos disease, is a pathognomonic finding of PHTS, and autism spectrum disorders affect young patients. Furthermore, we reviewed pathological changes induced by cerebellar PTEN loss in both humans and animal models. [ABSTRACT FROM AUTHOR]

The occurrence of sequelae is common after heatstroke. There is a lack of risk prediction data regarding the prevalence of sequelae. This study aims to develop a predictive model for the sequelae after heatstroke, including cerebellar dysfunction. Heatstroke patients admitted to our hospital in the past 8 years were retrospectively enrolled. Regression analyses were conducted to identify risk factors associated with sequelae and cerebellar dysfunction. A prediction model for post-heatstroke sequelae was developed and internally and externally validated. Twenty-three percent of the patients experienced sequelae, with cerebellar dysfunction accounting for 51.7%. Patients with sequelae had longer duration of hyperthermia and coma, lower Glasgow Coma Scales scores, elevated core temperature, increased incidence of multiple organ dysfunction upon admission, and a worse prognosis compared to non-sequelae patients. Patients with cerebellar injury exhibited impaired balance, and a Sepsis-related Organ Failure Assessment (SOFA) score > 5 is an independent risk factor. The prediction system included advanced age, coma, and an APACHE-II score > 10 upon admission, predicting sensitivity = 0.8966, specificity = 0.8925, and AUC of ROC curve = 0.941 (95% CI: 0.884 ~ 0.976). The C-index in the internal verification was 0.942 (95% CI: 0.847 ~ 0.981) and the AUC in the external verification was 0.816 (95% CI: 0.699 ~ 0.902). The prediction system included advanced age, coma, and higher APACHE-II scores as variables, indicating a significant prevalence of sequelae. Higher SOFA scores were associated with the increased occurrence of cerebellar dysfunction and balance impairment. The prediction system could better predict sequelae after heatstroke. [ABSTRACT FROM AUTHOR]

Elucidation of the mechanisms involved in neurodegenerative diseases of the cerebellum has been hampered by the lack of robust single cell models to study Purkinje neurons and replicate at the same time in vivo features. Cerebellar Purkinje neurons are difficult to grow in dispersed cell culture, and only limited work has been done using rat cells. We developed a refined protocol for growing rat Purkinje neurons from embryonic and postnatal tissue ex vivo that results in well-developed, mature, functional, and synaptically active neurons. The rat Purkinje neurons generated are responsive to paracrine factors and genetic manipulation, allowing great experimental flexibility at the single-cell level. This ex vivo model can be used to investigate disease mechanisms that disturb Purkinje neuron morphology, function, and communication in high- and low-throughput screening formats. [ABSTRACT FROM AUTHOR]

Background: Cerebellar injury is one of the perinatal complications in preterm infants. Recent studies have highlighted the effect of perinatal complications on neurological morbidity. We investigated the perinatal risk factors and morbidity for cerebellar injury in extremely premature infants. Methods: This retrospective cohort study included 285 infants born between April 2009 and December 2020 at gestational age <28 weeks at our institution. The infants were divided into two groups based on magnetic resonance imaging findings: those with and without cerebellar injury. We performed a statistical analysis of the perinatal background and short‐term morbidity of the two groups. Results: Significant differences (p < 0.05) were observed between the groups with respect to the perinatal background, especially gestational weeks, birthweight, and hemoglobin values at birth. In the short‐term morbidity, significant differences (p < 0.05) were observed in the incidence of respiratory distress syndrome, chronic lung disease, hydrocephalus, severe intraventricular hemorrhage (IVH), and cerebellar hemorrhage. Extensive cerebellar lesions, such as cerebellar agenesis or global cerebellar hypoplasia, accounted for 11 of the 22 cases of cerebellar injury; seven of the 11 cases had severe IVH in addition to cerebellar hemorrhage. Conclusions: Gestational age was significantly lower in the cerebellar injury group. The combination of severe IVH and cerebellar hemorrhage may promote cerebellar injury. [ABSTRACT FROM AUTHOR]

Having brain CT (computed tomography) scan is limited by the financial means patients in Madagascar. Neurological examination becomes essential the management of stroke. Our goal was to establish the correlation between clinical criteria and brain CT scan result. Methods: we did a retrospective, descriptive and analytical study of patients admitted for stroke at the neurology department of the Joseph Raseta University Hospital in Befelatanana from October 2018 to September 2019. Results: Two hundred thirty seven cases were retained. The presence of higher functions problems’ is correlated with stroke of the superficial arteries and its absence with stroke of the perforating arteries. The Alternate syndrome predicted stroke of the brainstem and cerebellum. Conclusion: A well-conducted clinical examination helps manage stroke while waiting for a brain CT scan. The clinical criteria provide the topography of the artery affected during the stroke. [ABSTRACT FROM AUTHOR]

Background: Alcohol use disorder (AUD) affects 283 million people worldwide and its prevalence is increasing. Despite the role of the cerebellum in executive control and its sensitivity to alcohol, few studies have assessed its involvement in AUD‐relevant functional networks. The goal of this study is to compare resting‐state functional connectivity (FC) patterns in abstinent adults with a history of AUD and controls (CTL). We hypothesized that group differences in cerebro‐cerebellar FC would be present, particularly within the frontoparietal/executive control network (FPN). Methods: Twenty‐eight participants completed a resting‐state functional magnetic resonance imaging (rsfMRI) study. CTL participants had no history of AUD, comorbid psychological conditions, or recent heavy drinking and/or drug use. AUD participants had a history of AUD, with sobriety for at least 30 days prior to data collection. Multivariate pattern analysis, an agnostic, whole‐brain approach, was used to identify regions with significant differences in FC between groups. Seed‐based analyses were then conducted to determine the directionality and extent of these FC differences. Associations between FC strength and executive function were assessed using correlations with Wisconsin Card Sorting Test (WCST) performance. Results: There were significant group differences in FC in nodes of the FPN, ventral attention network, and default mode network. Post hoc analyses predominantly identified FC differences within the cerebro‐cerebellar FPN, with AUD showing significantly less FC within the FPN. In AUD, FC strength between FPN clusters identified in the multivariate pattern analysis (MVPA) analysis (Left Crus II, Right Frontal Cortex) was positively associated with performance on the WCST. Conclusions: Our results show less engagement of the FPN in individuals with AUD than in CTL. FC strength within this network was positively associated with performance on the WCST. These findings suggest that long‐term heavy drinking alters cerebro‐cerebellar FC, particularly within networks that are involved in executive function. [ABSTRACT FROM AUTHOR]

Objectives: Our objectives were to investigate the characteristics of people living with HIV who presented with new or recurrent symptoms in the context of re‐emergence of cerebrospinal fluid HIV RNA escape after antiretroviral therapy (ART) modification (termed relapse of CSF HIV RNA escape). Methods: People living with HIV‐1 with known CSF HIV RNA escape were identified, with clinical and laboratory data obtained from records in a tertiary centre. CSF HIV RNA escape was defined as quantifiable CSF HIV RNA in the presence of unquantifiable plasma HIV‐RNA or CSF HIV RNA greater than plasma HIV RNA in cases where plasma HIV‐RNA was quantifiable. Relapse was defined as a re‐emergence of CSF HIV RNA escape with new symptoms after ART therapy intensification post‐initial CSF HIV RNA escape. Results: Among 40 people living with HIV who presented with neurosymptomatic CSF HIV RNA, eight (20%) presented with a relapse of CSF HIV RNA escape. Symptoms on relapse included confusion (n = 2), cognitive decline (n = 2), cerebellar dysfunction (n = 2) and worsening of pre‐existing seizures (n = 1). Prior to their relapse, three people underwent drug therapy modification, with two people stopping raltegravir intensification, and one person switched from tenofovir alafenamide, emtricitabine and raltegravir for a new regimen. Conclusions: People with a relapse of CSF HIV RNA escape within this cohort presented with varied symptoms similar to their initial CSF HIV RNA escape. Clinicians should be vigilant of relapse of symptoms, particularly when simplifying ART regimens in people with CSF HIV RNA escape. [ABSTRACT FROM AUTHOR]

Parkinson disease (PD) is characterized by heterogeneous motor and non-motor symptoms, resulting from neurodegeneration involving various parts of the central nervous system. Although PD pathology predominantly involves the nigral–striatal system, growing evidence suggests that pathological changes extend beyond the basal ganglia into other parts of the brain, including the cerebellum. In addition to a primary involvement in motor control, the cerebellum is now known to also have an important role in cognitive, sleep and affective processes. Over the past decade, an accumulating body of research has provided clinical, pathological, neurophysiological, structural and functional neuroimaging findings that clearly establish a link between the cerebellum and PD. This Review presents an overview and update on the involvement of the cerebellum in the clinical features and pathogenesis of PD, which could provide a novel framework for a better understanding the heterogeneity of the disease. Here, the authors discuss evidence for the involvement of the cerebellum in Parkinson disease. They cover the anatomical connections between the cerebellum and basal ganglia and how functional and connectivity alterations observed in the cerebellum of people with the disease relate to specific clinical symptoms. Key points: Emerging evidence underscores the involvement of the cerebellum in the pathophysiology and pathogenesis of Parkinson disease (PD). Anatomical investigations have revealed robust connectivity between the cerebellum and basal ganglia, encompassing dopaminergic projections that link the two regions. Research spanning the past two decades has elucidated the presence of neurodegeneration and α-synuclein pathology in the cerebellum of people with PD. Functional and connectivity analyses have highlighted distinct alterations in specific cerebellar areas that correlate with different clinical symptoms of PD. Advances in physiological studies of the cerebellar circuitry in PD promise novel insights and provide a comprehensive framework for comprehending the heterogeneity of the disease. [ABSTRACT FROM AUTHOR]

Acute cerebellitis (AC) in children and adolescents is an inflammatory disease of the cerebellum due to viral or bacterial infections but also autoimmune-mediated processes. To investigate the frequency of autoantibodies in serum and CSF as well as the neuroradiological features in children with AC. Children presenting with symptoms suggestive of AC defined as acute/subacute onset of cerebellar symptoms and MRI evidence of cerebellar inflammation or additional CSF pleocytosis, positive oligoclonal bands (OCBs), and/or presence of autoantibodies in case of negative cerebellar MRI. Children fulfilling the above-mentioned criteria and a complete data set including clinical presentation, CSF studies, testing for neuronal/cerebellar and MOG antibodies as well as MRI scans performed at disease onset were eligible for this retrospective multicenter study. 36 patients fulfilled the inclusion criteria for AC (f:m = 14:22, median age 5.5 years). Ataxia was the most common cerebellar symptom present in 30/36 (83 %) in addition to dysmetria (15/36) or dysarthria (13/36). A substantial number of children (21/36) also had signs of encephalitis such as somnolence or seizures. In 10/36 (28 %) children the following autoantibodies (abs) were found: MOG-abs (n = 5) in serum, GFAPα-abs (n = 1) in CSF, GlyR-abs (n = 1) in CSF, mGluR1-abs (n = 1) in CSF and serum. In two further children, antibodies were detected only in serum (GlyR-abs, n = 1; GFAPα-abs, n = 1). MRI signal alterations in cerebellum were found in 30/36 children (83 %). Additional supra- and/or infratentorial lesions were present in 12/36 children, including all five children with MOG-abs. Outcome after a median follow-up of 3 months (range: 1 a 75) was favorable with an mRS ≤2 in 24/36 (67 %) after therapy. Antibody (ab)-positive children were significantly more likely to have a better outcome than ab-negative children (p =.022). In nearly 30 % of children in our study with AC, a range of abs was found, underscoring that autoantibody testing in serum and CSF should be included in the work-up of a child with suspected AC. The detection of MOG-abs in AC does expand the MOGAD spectrum. [ABSTRACT FROM AUTHOR]

Objectives: Cerebellar infarction is an ischemic or hemorrhagic type episode involving the three main cerebellar arteries. An infarction in each of these arteries causes different but common symptoms, requiring a particularly important contribution of physiotherapy to its treatment. This overview aimed to investigate the effectiveness of physiotherapy programs on the symptoms of patients with cerebellar infarction. Methods: A literature search was performed using eight databases and the keywords, including physiotherapy, physical therapy, rehabilitation, therapeutic exercise, exercise, cerebellar infarct, cerebellar infarction, and cerebellar blockage. The selection process of the final studies was carried out after setting inclusion and exclusion criteria and separately by two reviewers. Results: Out of 1477 initial records, six studies met the inclusion criteria for this overview. Interventions focused on a balance training program and walking training, as opposed to a treadmill training program, seem to improve symptoms in these patients. Also, task-oriented approach was a promising method of rehabilitation. Discussion: Physiotherapy has a beneficial effect on the symptoms of patients with cerebellar infarction and should be considered for the overall recovery of the patient. However, future research is needed due to the small number of studies and to find therapeutically proven forms of intervention. [ABSTRACT FROM AUTHOR]

Background: Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features. Case presentation: In this study, we describe a young Caucasian boy with mild intellectual disability, cerebellar anomalies (cerebellar hypoplasia and mega cisterna magna) and minor dysmorphic features associated to a novel KIRREL3 variant. Conclusions: Aim of the present case report is to expand the clinical spectrum of KIRREL3-related diseases towards a milder phenotype than what is already described in the literature. We speculate that the interaction between KIRREL3 and CASK might play a major role in promoting cognitive and cerebellar development, contributing to a variety of clinical manifestations. [ABSTRACT FROM AUTHOR]

Essential Tremor (ET) is a prevalent neurological disease characterized by an 8–10 Hz action tremor. Molecular mechanisms of ET remain poorly understood. Clinical data suggest the importance of the cerebellum in disease pathophysiology, and pathological studies indicate Purkinje Cells (PCs) incur damage. Our recent cerebellar cortex and PC-specific transcriptome studies identified alterations in calcium (Ca2+) signaling pathways that included ryanodine receptor type 1 (RyR1) in ET. RyR1 is an intracellular Ca2+ release channel located on the Endoplasmic Reticulum (ER), and in cerebellum is predominantly expressed in PCs. Under stress conditions, RyR1 undergoes several post-translational modifications (protein kinase A [PKA] phosphorylation, oxidation, nitrosylation), coupled with depletion of the channel-stabilizing binding partner calstabin1, which collectively characterize a "leaky channel" biochemical signature. In this study, we found markedly increased PKA phosphorylation at the RyR1-S2844 site, increased RyR1 oxidation and nitrosylation, and calstabin1 depletion from the RyR1 complex in postmortem ET cerebellum. Decreased calstabin1-RyR1-binding affinity correlated with loss of PCs and climbing fiber-PC synapses in ET. This 'leaky' RyR1 signature was not seen in control or Parkinson's disease cerebellum. Microsomes from postmortem cerebellum demonstrated excessive ER Ca2+ leak in ET vs. controls, attenuated by channel stabilization. We further studied the role of RyR1 in tremor using a mouse model harboring a RyR1 point mutation that mimics constitutive site-specific PKA phosphorylation (RyR1-S2844D). RyR1-S2844D homozygous mice develop a 10 Hz action tremor and robust abnormal oscillatory activity in cerebellar physiological recordings. Intra-cerebellar microinfusion of RyR1 agonist or antagonist, respectively, increased or decreased tremor amplitude in RyR1-S2844D mice, supporting a direct role of cerebellar RyR1 leakiness for tremor generation. Treating RyR1-S2844D mice with a novel RyR1 channel-stabilizing compound, Rycal, effectively dampened cerebellar oscillatory activity, suppressed tremor, and normalized cerebellar RyR1-calstabin1 binding. These data collectively support that stress-associated ER Ca2+ leak via RyR1 may contribute to tremor pathophysiology. [ABSTRACT FROM AUTHOR]

Neural processing in the basal ganglia is critical for normal movement. Diseases of the basal ganglia, such as Parkinson's disease, produce a variety of movement disorders including akinesia and bradykinesia. Many believe that the basal ganglia influence movement via thalamic projections to motor areas of the cerebral cortex and through projections to the cerebellum, which also projects to the motor cortex via the thalamus. However, lesions that interrupt these thalamic pathways to the cortex have little effect on many movements, including limb movements. Yet, limb movements are severely impaired by basal ganglia disease or damage to the cerebellum. We can explain this impairment as well as the mild effects of thalamic lesions if basal ganglia and cerebellar output reach brainstem motor regions without passing through the thalamus. In this report, we describe several brainstem pathways that connect basal ganglia output to the cerebellum via nucleus reticularis tegmenti pontis (NRTP). Additionally, we propose that widespread afferent and efferent connections of NRTP with the cerebellum could integrate processing across cerebellar regions. The basal ganglia could then alter movements via descending projections of the cerebellum. Pathways through NRTP are important for the control of normal movement and may underlie deficits associated with basal ganglia disease. [ABSTRACT FROM AUTHOR]

Spina bifida, known more commonly as myelomeningocele, is a neural tube defect that results in herniation of the cerebellum through the foramen magnum into the central canal as part of the Chiari II malformation. Effects stemming from the herniated cerebellum and its metabolic profile have not been extensively studied. The objective of this study is to examine the metabolic effects of this disease on the cerebellum in utero through the utilization of a retinoid acid-induced Spina bifida rat model. Analysis of this model at mid-late (day 15) and term (day 20) of gestation in comparison to both non-exposed and retinoic acid-exposed non-myelomeningocele controls, the observed metabolic changes suggest that mechanisms of oxidative stress and energy depletion are at play in this neuro tissue. These notable mechanisms are likely to result in further damage to neural tissue as the fetus grows and the compressed cerebellum develops and herniates more due to myelomeningocele. [ABSTRACT FROM AUTHOR]

Paroxysmal kinesigenic dyskinesia (PKD) represents a rare subset of movement disorders characterized by involuntary movements triggered by sudden voluntary actions, without loss of consciousness. Typically manifesting in the first or second decade of life, PKD can present as either familial or sporadic, with the most common mutation identified in familial cases being in the proline-rich transmembrane protein 2 gene. This abstract presents a unique case of PKD accompanied by a progressive spastic ataxic syndrome in a 17-year-old male with a history of consanguinity. The patient exhibited a constellation of symptoms including delayed motor milestones, unsteady gait, slurred speech, and dystonic movements, alongside neurological findings consistent with cerebellar dysfunction and peripheral neuropathy. Genetic testing revealed pathogenic variants in the SACS gene, confirming the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. This case underscores the importance of thorough neurological evaluation, including consideration of atypical presentations, in patients with PKD. In addition, it sheds light on the association between SACS gene mutations and an autosomal recessive variant of PKD, emphasizing the need for awareness and recognition of such rare manifestations in clinical practice. [ABSTRACT FROM AUTHOR]

Purpose: Phase difference enhanced (PADRE) imaging can enhance myelin density and delineate the superior cerebellar peduncle (SCP). We aimed to determine if SCP atrophy was distinguishable on PADRE imaging and evaluate its diagnostic performance compared with previous MRI progressive supranuclear palsy (PSP) findings. Methods: Two reviewers measured the SCP widths on PADRE in 20 PSP and 31 Parkinson's disease (PD) patients. The SCP and middle cerebellar peduncle (MCP) widths and the pons and midbrain areas were measured on 3D-T1WI, and the ratio of the area of the pons to the area of the midbrain, the MCP/SCP ratio, and the magnetic resonance parkinsonism index (MRPI) were calculated. We used the Steel–Dwass test to compare PSP, PD, and HS, and receiver operating characteristic curve (ROC) analyses to assess the sensitivity and specificity for diagnosing PSP from PD. A comparison of ROC curves was performed between the SCP on PADRE and these 3D-T1WI parameters. Results: In radiologist 1, the SCP on PADRE in PSP (1.1 ± 0.3 mm) was significantly smaller than those in PD (2.4 ± 0.4 mm) (P < 0.001); the area under the curve (AUC) was 0.97. At a 1.75-mm cutoff value, the diagnostic sensitivity and specificity for differentiating PSP from PD were 93.5% and 100%, respectively. The AUC of the SCP on PADRE was significantly higher than the 3D-T1WI parameters (the SCP, MCP, pons area, MCP/SCP ratio, and MRPI). Conclusion: Assessing SCP with PADRE imaging may yield high diagnostic accuracy for discriminating PSP from PD. [ABSTRACT FROM AUTHOR]

Although various neurodegenerative disorders have been associated with coeliac disease (CD), the underlying neuropathological link between these brain and gut diseases remains unclear. We postulated that the neuronal damage sporadically observed in CD patients is immune-mediated. Our aim was to determine if the loss of neurons, especially Purkinje cells, coincides with microglia activation and T- and B-cell infiltration in the cerebellum of patients with CD and a concomitant idiopathic neurological disease affecting the cerebellum (NeuroCD). Post-mortem cerebellar tissue was collected of validated NeuroCD cases. Gender- and age-matched genetic spinocerebellar ataxia (SCA) controls and non-neurological controls (NNC) were selected based on clinical reports and pathological findings. Cerebellar tissue of seventeen patients was included (6 NeuroCD, 5 SCA, 6 NNC). In SCA cases we found that the Purkinje cell layer was 58.6% reduced in comparison with NNC. In NeuroCD cases this reduction was even more prominent with a median reduction of 81.3% compared to NNC. Marked increased numbers of both CD3+ and CD8+ cells were observed in the NeuroCD but not in SCA patients. This coincided with significantly more microglial reactivity in NeuroCD patients. These findings demonstrate that the massive loss of Purkinje cells in the cerebellum of neuro CD patients is accompanied by local innate and T-cell mediated immune responses. [ABSTRACT FROM AUTHOR]

Background: The mechanism of gait and balance dysfunction (GBD) in cerebral small vessel disease (CSVD) remains unclear. Evidence supports cognition engages in GBD of CSVD. The cerebellum is important in motor and cognition, while little is known about the influence of the cerebellum on GBD in CSVD. Methods: This study is a retrospective cohort study. All participants of this study were enrolled from the CSVD individuals in Nanjing Drum Tower Hospital from 2017 to 2021. The GBD of CSVD patients was defined as Tinetti Test score ≤ 23. Cerebral cortical thickness, cerebellar gray matter volume, the amplitude of low-frequency fluctuation, functional connectivity, and modular interaction were calculated to determine the cortical atrophy and activity patterns of CSVD patients with GBD. The effect of cognitive domains during GBD in CSVD patients was explored by correlation analyses. Results: A total of 25 CSVD patients were recruited in CSVD patients with GBD group (Tinetti Test score ≤ 23, mean age ± standard deviation: 70.000 ± 6.976 years), and 34 CSVD patients were recruited in CSVD patients without GBD group (Tinetti Test score > 23, mean age ± standard deviation: 64.029 ± 9.453 years). CSVD patients with GBD displayed worse cognitive performance and cortical atrophy in the right cerebellum VIIIa and bilateral superior temporal gyrus than those without GBD. The right postcentral gyrus, left inferior temporal gyrus, right angular gyrus, right supramarginal gyrus and right middle frontal gyrus were functionally overactivated and showed decreased modular interaction with the right cerebellum. Tinetti Test scores were negatively related to the volume of the right cerebellum VIIIa in CSVD patients with GBD. Notably, memory, especially visuospatial memory, was greatly associated with GBD in CSVD. Conclusion: The cortical atrophy and altered functional activity in sensorimotor area and ventral attention network in the cerebellum and cerebrum may underlying the GBD in CSVD. Memory might be critically cognitively responsible for GBD in CSVD. [ABSTRACT FROM AUTHOR]

Objective: The diagnosis of posterior fossa abnormalities (PFA) in the intrauterine period and association with pregnancy outcomes are still controversial. PFA is generally referred to maternal-fetal medicine specialists. The primary purpose of PFA diagnosis is to screen for other accompanying abnormalities, provide prognostic information to families, and discuss the termination option. Material and Methods: This retrospective study was conducted in patients diagnosed with PFA between January 2013 and September 2020 in a tertiary perinatology clinic. All patients underwent routine second-trimester ultrasound screening and definitive diagnosis was made by fetal magnetic resonance imaging (MRI) in the presence of a suspected anomaly. Results: There were 164 fetal MRIs for fetal abnormalities during the study period and 22 (13.4%) were diagnosed with a PFA on fetal MRI. Indications for fetal MRI included four (18%) with Mega Cisterna Magna, two (9.1%) with rhomboencephalosynapsis, and thirteen (59.1%) with Vermian Hypoplasia-Dandy-Walker variant. Two patients, with neural tube defects and lumbosacral neural-tube defect are still alive. However, iniencephaly was detected in last patient who died in the postnatal period. Conclusion: Diagnosis of PFA abnormalities is complex, and the prognosis in PFA is often unclear. The prognosis is not affected by maternal and fetal factors and allows the recognition of additional accompanying abnormalities. Fetal MRI is an imaging method that can provide retrospective examination and research, especially in pregnancies with poor prognoses. [ABSTRACT FROM AUTHOR]

Dyke Davidoff Masson Syndrome (DDMS) is characterized clinically by hemiplegia or hemiparesis, mental retardation, and epilepsy and radiologically by cerebral hemiatrophy, ipsilateral calvarial thickening, and dilation and increased aeration of the ipsilateral sinuses. Atrophy in the cerebral hemisphere may be accompanied by atrophy in the contralateral cerebellum. This condition is defined as crossed cerebellar atrophy (CCA). Although CCA's pathogenesis is unclear, it has been associated with damage to the corticopontocerebellar pathways and neuronal connections between the cerebellum and contralateral cerebral hemisphere. Diffusion tensor imaging and conventional magnetic resonance imaging may help to demonstrate axonal connection pathways and make a diagnosis. Here we present a case of a 39-year-old female patient with clinical and radiological findings of DDMS associated with CCA. [ABSTRACT FROM AUTHOR]

Introduction: Oppositional Defiant Disorder (ODD) is one of the common childhood disorders with extensive negative effects on people emotional, metacognitive, cognitive, and communication processes. Aim: This study aimed to investigate the effectiveness of cerebellar training in the theory of mind and working memory of children with ODD. Method: This semi-experimental study utilized a pretest-posttest and follow-up design with a control group. The statistical population included all 5-6-year-old children with ODD in Gonbad-e Kavus city in 2022. A convenience sample of 40 people was assigned to experimental and control groups. The experimental group underwent cerebellum training in 20 sessions of 40 minutes, three sessions per week, while the control group did not receive any training. The research instruments included the Disorders of Children Symptom Inventory-4 (CSI-4) (1994), Theory of Mind Test (1999), and Counting Span Test (2003). The data were analyzed by SPSS-24 software using the repeated measures analysis of variance. Results: Cerebellar training significantly improved working memory and theory of mind in the posttest and follow-up stages (P<0.01). Also, 31.7% of the difference between the groups in the theory of mind, 21.5% in the forward memory span, and 17.9% in the backward memory span was due to the intervention effect. Conclusion: Cerebellar training was effective on working memory and theory of mind of children with ODD. This research provides useful information regarding the cerebellum training package. Counselors and psychologists can use this intervention to improve working memory and the theory of mind of children with ODD. [ABSTRACT FROM AUTHOR]

Subacute cerebellar syndromes have a broad differential diagnosis, which includes paraneoplasia. Paraneoplastic cerebellar degeneration needs to be considered in this clinical situation even if initial brain imaging is normal, and the neurological prognosis is guarded even if the underlying tumour can be successfully treated. [ABSTRACT FROM AUTHOR]

Introduction. As more information about cerebellar ataxia induced by anti GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with au toimmune causes. The prevalence of other neurological syndromes associated with anti GAD65 antibodies has been estimated, but the occurrence of cerebellar ataxia of the same cause has not yet been reported. The clinical presentation and management of antiGAD65 antibodies induced cerebellar ataxia are currently known only from single cases and small se ries reports. Case report. We present a clinical case of a 52yearold woman who was admitted to the hospital due to dizziness, impaired coordination, occasional choking, and slurred speech. Di agnostic procedures were performed, in which antiGAD65 antibodies and atrophic changes in the upper parts of the cerebellum were detected on brain MRI, which led to a possible diag nosis of antiGAD65 antibodyassociated cerebellar ataxia. Discussion and literature review. Patients tend to be women in their 60s with clinical symptoms such as gait and posture ataxia. Most patients present with nystagmus, dysarthria, and limb ataxia. To make the diagnosis, it is crucial to detect high titers of antiGAD65 anti bodies, do intrathecal antiGAD65 antibody synthesis, and perform a brain MRI, which may reveal atrophy of the cerebellum as the disease progresses. Corticosteroids are one of the rec ommended treatment methods, which were effective in our case. Maintenance therapy is es sential to prevent relapse of the disease. [ABSTRACT FROM AUTHOR]

Purpose: This study examined spontaneous, spoken-to-a-model, and two sung modes in speakers with Parkinson’s disease (PD), speakers with cerebellar disease (CD), and healthy controls. Vocal performance was measured by intelligibility scores and listeners’ perceptual ratings. Method: Participants included speakers with hypokinetic dysarthria secondary to PD, those with ataxic dysarthria secondary to CD, and healthy speakers. Participants produced utterances in four vocal modes: spontaneous speech, spoken-to-a-model, sung-to-a-model, and spontaneous singing. For spoken-to-a-model and sung-to-a-model modes, written material was provided the model. For spontaneous singing, participants sang songs that they endorsed as familiar. Dependent variables: In Experiment I, listeners orthographically transcribed the audio samples of the first three vocal modes. In Experiment IIa, raters evaluated the accuracy of the pitch and rhythm of the spontaneous singing of familiar songs. Finally, familiar songs and sung-to-a-model utterances were rated on a competency scale by a second group of raters (Experiment IIb). Results: Results showed increases in intelligibility during the spoken-to-a model mode compared with the spontaneous mode in both PD and CD groups. Singing enhanced the vocal output of speakers with PD more than in speakers with CD, as measured by percent intelligibility. PD participants’ pitch and rhythm accuracy and competency in singing familiar songs was rated more favorably than those produced by CD participants. Conclusions: The findings reveal a vocal task effect for spoken utterances in both groups. Sung exemplars, more impaired in CD, suggest a significant involvement of the cerebellum in singing. [ABSTRACT FROM AUTHOR]

In patients with Wallenberg's syndrome who present with body lateropulsion (BL), whether the center of pressure (COP) position and velocity characterize postural dysregulation is unknown. We measured time-course changes in COP parameters in three BL patients. Three patients with acute Wallenberg's syndrome presented with BL. COP was measured for time-course changes during first standing and every week thereafter. COP positions, which indicate the deviation in the center of gravity, were calculated. COP velocities associated with dynamic movements of the center of gravity were analyzed separately for the BL and non-BL sides. All patients showed that COP position shifted to the BL side in first standing and changed to the center over time. COP velocities to the BL side were fast in first standing. Two of the three patients had significantly faster COP velocities to the BL side than to the non-BL side (p <.05), and one did not. In all three cases, the faster COP velocities to the BL side decreased significantly after 2 weeks compared to the initial standing position (p <.001). The change seemed to be related to the time when independent walking became possible. Fast COP velocity to the BL side might reflect postural dysregulation in patients with BL. These findings might be useful information for devising effective rehabilitation in patients with BL. [ABSTRACT FROM AUTHOR]

The cerebellum is involved in multiple closed-loops circuitry which connect the cerebellar modules with the motor cortex, prefrontal, temporal, and parietal cortical areas, and contribute to motor control, cognitive processes, emotional processing, and behavior. Among them, the cerebello-thalamo-cortical pathway represents the anatomical substratum of cerebellum-motor cortex inhibition (CBI). However, the cerebellum is also connected with basal ganglia by disynaptic pathways, and cerebellar involvement in disorders commonly associated with basal ganglia dysfunction (e.g., Parkinson's disease and dystonia) has been suggested. Lately, cerebellar activity has been targeted by non-invasive brain stimulation (NIBS) techniques including transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) to indirectly affect and tune dysfunctional circuitry in the brain. Although the results are promising, several questions remain still unsolved. Here, a panel of experts from different specialties (neurophysiology, neurology, neurosurgery, neuropsychology) reviews the current results on cerebellar NIBS with the aim to derive the future steps and directions needed. We discuss the effects of TMS in the field of cerebellar neurophysiology, the potentials of cerebellar tDCS, the role of animal models in cerebellar NIBS applications, and the possible application of cerebellar NIBS in motor learning, stroke recovery, speech and language functions, neuropsychiatric and movement disorders. [ABSTRACT FROM AUTHOR]

Spinocerebellar ataxia type 3 (SCA3; Machado-Joseph disease, MJD) is the most common autosomal-dominant form of genetic ataxia worldwide. However, it has never been reported in Eastern Europe. This letter presents the first three families with SCA3 from Poland and discusses the practical implications of the disease for clinicians. [ABSTRACT FROM AUTHOR]

Yolŋu, Aboriginal people from Arnhem Land, Australia are at risk of Machado-Joseph disease, with progressive loss of speech. Yolŋu are interested in developing augmentative and alternative communication (AAC) systems in their own languages. This research aimed to develop a culturally responsive process to explore and create a core vocabulary word list for Yolŋu adults living with the disease for inclusion in AAC system prototypes. A list of 243 Yolŋu words and morphemes was created. In this highly collaborative, mixed methods, participatory action research, Balanda (the Yolŋu word for non-Aboriginal people) and Yolŋu researchers conducted cycles of transcription and analysis of a language sample, with oral group discussions to identify which words to include, omit, or add, based on Yolŋu perceptions of the structure and use of their languages. A Yolŋu metaphor, Gulaka-buma ("Harvesting yams"), was identified by Yolŋu researchers to represent and share the research process and findings. Three key themes were identified that summarize the main cultural and linguistic considerations related to changes made to the core vocabulary. Study findings emphasized the role of language as an expression of culture and identity for Indigenous peoples and the importance of considering cultural and linguistic factors in selecting vocabulary for AAC systems. [ABSTRACT FROM AUTHOR]

Yolŋu (Aboriginal Australians of northeast Arnhem Land) are interested in developing augmentative and alternative communication (AAC) systems in their own languages to support communication opportunities and participation for their family members living with Machado–Joseph disease. Designing AAC systems in Aboriginal languages requires consideration of unique linguistic and cultural elements. Participatory action research in strength-based communication contexts was carried out by Yolŋu and Balanda (the Yolŋu word for non-Aboriginal people) researchers working together through a collaborative intercultural process. Culturally responsive literacy, language, and AAC activities were used to develop four prototype Yolŋu AAC sytems for Yolŋu with varied literacy skills. Data were coded using gerunds to identify and focus on action in the data. Reflective and analytical collaborative, oral group discussions were used to identify key considerations and, ultimately, a Yolŋu metaphor for the research. Yolŋu language, culture and worldview impacted all aspects of prototype design and decision making. Salient considerations related to representation, organization, layout, and access, are presented. Clinical implications and future research considerations are outlined. [ABSTRACT FROM AUTHOR]

Glial cells constitute half the population of the human brain and are essential for normal brain function. Most, if not all, brain diseases are characterized by reactive gliosis, a process by which glial cells respond and contribute to neuronal pathology. Spinocerebellar ataxia type 1 (SCA1) is a progressive neurodegenerative disease characterized by a severe degeneration of cerebellar Purkinje cells (PCs) and cerebellar gliosis. SCA1 is caused by an abnormal expansion of CAG repeats in the gene Ataxin1 (ATXN1). While several studies reported the effects of mutant ATXN1 in Purkinje cells, it remains unclear how cerebellar glia respond to dysfunctional Purkinje cells in SCA1. To address this question, we performed single nuclei RNA sequencing (snRNA seq) on cerebella of early stage Pcp2-ATXN1[82Q] mice, a transgenic SCA1 mouse model expressing mutant ATXN1 only in Purkinje cells. We found no changes in neuronal and glial proportions in the SCA1 cerebellum at this early disease stage compared to wild-type controls. Importantly, we observed profound non-cell autonomous and potentially neuroprotective reactive gene and pathway alterations in Bergmann glia, velate astrocytes, and oligodendrocytes in response to Purkinje cell dysfunction. [ABSTRACT FROM AUTHOR]

Introduction: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of hereditary ataxia. Few studies reported the CMCT features in SCA3, but with inconsistent findings. So far, CMCT in SCA3 remains largely unknown.Methods: This study included 86 SCA3 patients and 80 healthy controls. Motor-evoked potentials were recorded bilaterally from upper and lower limbs muscles by TMS using a double-cone coil attached to CCY-IA magnetic stimulator. CMCT was determined using F wave and paravertebral magnetic stimulation (PMS). The statistical analyses were performed using R software.Results: In our study, 36.5% of SCA3 patients had a slight prolongation of CMCT in lower limbs, but not upper limbs, uncorrelated with disease severity. Moreover, SCA3 patients with Babinski signs did not necessarily have abnormal CMCT, and vice versa. Our study demonstrated that PMS is a reliable method as F wave for detecting CMCT in SCA3. Additionally, CMCT to lower limbs was positively correlated with height, but not with age, sex, or weight in healthy controls.Conclusions: A small proportion of SCA3 patients had a slight prolongation of CMCT in lower limbs, but not upper limbs, uncorrelated with disease severity. Furthermore, CMCT measures were observed irrespective of pyramidal sign in SCA3; however, patients with abnormal CMCT had a higher incidence of the pyramidal sign. [ABSTRACT FROM AUTHOR]

The article presents a case study of an 8-year-old girl presented to pediatric emergency department with a seven-day history of progressive headache, predominantly of frontal location, headache associated with vomiting and hyporexia. Regular blood test, urgent brain computed tomography (CT) scan and , a magnetic resonance imaging (MRI) was performed. She was finally diagnosed with acute cerebellitis (AC) presenting with symptoms of intracranial hypertension without cerebellar semiology.

Objective: This study aimed to explore the characteristics of cognitive function in patients with cerebellar infarction and its association with lesion location. Methods: Forty-five patients with isolated cerebellar infarction were collected in the Department of Neurology, Beijing Tiantan Hospital. Thirty healthy controls were recruited matched by age and education. Global cognitive function was evaluated by using Addenbrooke's Cognitive Examination version III (ACE-III). An extensive neuropsychological assessment battery was also tested to evaluate the characteristics of each cognitive domain. 3D slicer software was used to draw the lesion, and evaluate the lesions' volume, side, and location. Group analysis was used to compare the differences in cognitive performance between patients and healthy controls, and patients with left and right cerebellar hemisphere infarction. Spearman analysis was used to explore the correlation between cognitive function and lesion volume. We also subdivided each patient's lesions according to the cerebellar atlas to identify the specific cerebellar location related to cognitive decline. Results: Patients with cerebellar infarction had a lower ACE-III score compared with the healthy group (87.9 ± 6.2 vs. 93.7 ± 2.9, p < 0.001), and 22 (48.9%) patients were diagnosed with cognitive impairment. The z-transformed score of attention and executive function in the patients' group was -0.9 ± 1.4 and -0.8 ± 1.0 respectively, with 19 (43.2%) and 23 (56.4%) patients impaired. Compared with healthy controls, the relative risk ratio with 95% confidence interval (CI) for impairment in attention and executive function were 3.24 (1.22-8.57) and 3.39 (1.45-7.89). However, only 10 (22.1%) patients showed impairment in more than two cognitive domains. Compared with the left lesion group, patients with right cerebellar infarction showed significantly impaired executive function (-1.1 ± 0.3 vs. -0.5 ± 0.2, p = 0.01). And the cerebellar posterior lobe regions, especially lobules VI, VIII, and IX, were explored to have lower cognitive performance. Furthermore, lesion volume was identified to be associated with the ACE-III score (r = -0.37, p = 0.04). Conclusion: We identified that cerebellar involvement in cognition, especially in attention processing and executive function. Cerebellar right-sided lateralization of cognition and functional topography were also revealed in the current study. [ABSTRACT FROM AUTHOR]