Correction to: Paradoxical Activation in the Cerebellum During Language fMRI in Patients with Brain Tumors: Possible Explanations Based on Neurovascular Uncoupling and Functional Reorganization
The original version of this article unfortunately contained mistake in Funding information section. (Source: The Cerebellum)
Source: The Cerebellum - October 3, 2019 Category: Neurology Source Type: research

Evidence of Impaired Cerebellar Connectivity at Rest and During Autonomic Maneuvers in Patients with Autonomic Failure
The objective of the current study was to investigate whether patients with neurogenic orthostatic hypotension (NOH) secondary to autonomic failure have impaired functional connectivity between the cerebellum and central autonomic structures during autonomic challenges. Fifteen healthy controls (61  ± 14 years) and 15 NOH patients (67 ± 6 years;p = 0.12) completed the following tasks during a functional brain MRI: (1) 5 min of rest, (2) 5 min of lower-body negative pressure (LBNP) performed at − 35 mmHg, and (3) Three, 15-s Valsalva mane...
Source: The Cerebellum - September 16, 2019 Category: Neurology Source Type: research

The Cerebellar Cognitive Affective/Schmahmann Syndrome: a Task Force Paper
AbstractSporadically advocated over the last two centuries, a cerebellar role in cognition and affect has been rigorously established in the past few decades. In the clinical domain, such progress is epitomized by the “cerebellar cognitive affective syndrome” (“CCAS”) or “Schmahmann syndrome.” Introduced in the late 1990s, CCAS reflects a constellation of cerebellar-induced sequelae, comprising deficits in executive function, visuospatial cognition, emotion–affect, and language, over and above speec h. The CCAS thus offers excellent grounds to investigate the functional topography ...
Source: The Cerebellum - September 14, 2019 Category: Neurology Source Type: research

Cerebellar Modulation of Mesolimbic Dopamine Transmission Is Functionally Asymmetrical
AbstractCerebral and cerebellar hemispheres are known to be asymmetrical in structure and function, and previous literature supports that asymmetry extends to the neural dopamine systems. Using in vivo fixed potential amperometry with carbon fiber microelectrodes in anesthetized mice, the current study assessed hemispheric lateralization of stimulation-evoked dopamine in the nucleus accumbens (NAc) and the influence of the cerebellum in regulating this reward-associated pathway. Our results suggest that cerebellar output can modulate mesolimbic dopamine transmission, and this modulation contributes to asymmetrically latera...
Source: The Cerebellum - September 2, 2019 Category: Neurology Source Type: research

The Working Life of People with Degenerative Cerebellar Ataxia
AbstractThe aim of the present study was to characterize and analyze the most important individual and organizational variables associated with job accommodation in subjects with degenerative cerebellar ataxia by administering a series of international and validated work activity-related scales. Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive ataxia (27 with Friedreich ataxia and 21 with sporadic adult-onset ataxia of unknown etiology). The severity of ataxia was rated using the Scale for the Assessment and Rating of Ataxia. Our results showe...
Source: The Cerebellum - August 30, 2019 Category: Neurology Source Type: research

Stroke-Like Presentation of Paraneoplastic Cerebellar Degeneration: a Single-Center Experience and Review of the Literature
We report herein incidence and clinical features of hyperacute onset PCD, a vertebrobasilar stroke mimic. We performed a retrospective analysis of all suspected PCD cases referred to the Udine University Hospital between 2009 and 2017. Our center provides the only neuroimmunology laboratory for three provinces of the Friuli-Venezia Giulia region, Italy (983,190 people as of January 1, 2017). Inclusion criteria were (1) abrupt onset of neurological symptoms; (2) initial consideration of a vascular etiology; (3) final diagnosis of “definite PCD.” We also carried out a systematic review of the literature in order ...
Source: The Cerebellum - August 29, 2019 Category: Neurology Source Type: research

Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures
AbstractFriedreich ’s ataxia (FRDA) is a rare autosomal-recessive slowly progressive neurodegenerative disorder. As common clinical measures for this devastating disease lack sensitivity, we explored whether (a) the quantitative motor assessments of the Q-Motor battery can enhance clinical characterisation of FRDA; (b) clinical measures can predict Q-Motor outcomes and (c) Q-Motor is sensitive to longitudinal change. At baseline 29 patients and 23 controls and in a 1-year follow-up 14 patients and 6 controls were included. The Q-Motor included lift (manumotography), finger tapping (digitomotography) and pronat e/supi...
Source: The Cerebellum - August 22, 2019 Category: Neurology Source Type: research

Regulatory Control of Microglial Phagocytosis by Estradiol and Prostaglandin E2 in the Developing Rat Cerebellum
AbstractMicroglia are essential to sculpting the developing brain, and they achieve this in part through the process of phagocytosis which is regulated by microenvironmental signals associated with cell death and synaptic connectivity. In the rat cerebellum, microglial phagocytosis reaches its highest activity during the third postnatal week of development but the factors regulating this activity are unknown. A signaling pathway, involving prostaglandin E2 (PGE2) stimulation of the estrogen synthetic enzyme aromatase, peaks during the 2nd postnatal week and is a critical regulator of Purkinje cell maturation. We explored t...
Source: The Cerebellum - August 21, 2019 Category: Neurology Source Type: research

Tremor Distribution and the Variable Clinical Presentation of Essential Tremor
AbstractIn addition to having postural and kinetic tremor of the upper limbs, some patients with essential tremor (ET) may have head tremor as well as cognitive and psychiatric disorders. We aimed to investigate whether the variable clinical presentation in ET patients, including motor and non-motor symptoms, differs in patients with and without head tremor. We consecutively enrolled 70 patients with a diagnosis of ET. Tremor severity was assessed by means of clinical rating scales. Patients also underwent kinematic recordings of postural and kinetic tremor of the upper limbs based on an optoelectronic system. Several neur...
Source: The Cerebellum - August 17, 2019 Category: Neurology Source Type: research

Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA)
AbstractSporadic adult-onset ataxia of unknown etiology (SAOA) is a non-genetic neurodegenerative disorder of the cerebellum of unknown cause which manifests with progressive ataxia without severe autonomic failure. Although SAOA is associated with cerebellar degeneration, little is known about the specific cerebellar atrophy pattern in SAOA. Thirty-seven SAOA patients and 49 healthy controls (HCs) were included at two centers. We investigated the structural and functional characteristics of SAOA brains using voxel-based morphometry (VBM) and resting-state functional imaging (rs-fMRI). In order to examine the functional co...
Source: The Cerebellum - August 17, 2019 Category: Neurology Source Type: research

Embryonic Cerebellar Graft Morphology Differs in Two Mouse Models of Cerebellar Degeneration
AbstractCerebellar diseases causing substantial cell loss often lead to severe functional deficits and restoration of cerebellar function is difficult. Neurotransplantation therapy could become a hopeful method, but there are still many limitations and unknown aspects. Studies in a variety of cerebellar mutant mice reflecting heterogeneity of human cerebellar degenerations show promising results as well as new problems and questions to be answered. The aim of this work was to compare the development of embryonic cerebellar grafts in adult B6CBA Lurcher and B6.BR pcd mutant mice and strain-matched healthy wild type mice. Pe...
Source: The Cerebellum - August 15, 2019 Category: Neurology Source Type: research

VEMPs and Dysautonomia Assessment in Definite Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): a Case Series Study
AbstractCerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recently described slowly progressive ataxia with severe imbalance due to the compromise of three of the four sensory inputs for balance, leaving only vision unaffected. Bilateral vestibulopathy is present but saccular and utricular function, measured by vestibular evoked myogenic potentials (VEMPs), has not been widely studied in these patients. Dysautonomia has been reported but is not among the diagnostic criteria. We performed a database analysis to identify patients evaluated between 2003 and 2019 with probable diagnosis of CANVA...
Source: The Cerebellum - August 15, 2019 Category: Neurology Source Type: research

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)
We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition. (Source: The Cerebellum)
Source: The Cerebellum - August 13, 2019 Category: Neurology Source Type: research

Corrective Saccades in Unilateral and Bilateral Vestibular Hypofunction During Slow Rotation Expressed by Visually Enhanced VOR and VOR Suppression: Role of the Cerebellum
AbstractIn clinical practice, the head impulse test paradigm (HIMP) and the suppression head impulse paradigm (SHIMP) stimulate high-frequency head movements so that the visual system is temporarily suppressed. The two tests could also be useful tools for vestibular assessment at low frequencies: VVOR (visually enhanced vestibulo-ocular reflex) and VORS (vestibulo-ocular reflex suppression). The aim of this study is to analyze the eye movements typically found during VVOR and VORS testing in patients with unilateral and bilateral vestibular hypofunction. Twenty patients with unilateral vestibular hypofunction, three patien...
Source: The Cerebellum - August 8, 2019 Category: Neurology Source Type: research

The Cerebellar Cognitive Affective Syndrome —a Meta-analysis
AbstractThe cerebellar cognitive affective syndrome (CCAS) was first described by Schmahmann and Sherman in 1998. Despite their clear depiction of the syndrome, it is our experience that the CCAS has not yet found solid ground as a disease entity in routine clinical practice. This made us question the dimension of the CCAS in cerebellar patients. We performed a systematic review of the literature according to the PRISMA guidelines, in order to answer the question whether patients with acquired isolated cerebellar lesions perform significantly worse on neuropsychological testing compared to healthy controls. Studies were se...
Source: The Cerebellum - August 7, 2019 Category: Neurology Source Type: research

Exercise and Physical Therapy Interventions for Children with Ataxia: A Systematic Review
AbstractThe effectiveness of exercise and physical therapy for children with ataxia is poorly understood. The aim of this systematic review was to critically evaluate the range, scope and methodological quality of studies investigating the effectiveness of exercise and physical therapy interventions for children with ataxia. The following databases were searched: AMED, CENTRAL, CDSR, CINAHL,, EMBASE, Ovid MEDLINE, PEDro and Web of Science. No limits were placed on language, type of study or year of publication. Two reviewers independently determined whether the studies met the inclusion criteria, extract...
Source: The Cerebellum - August 7, 2019 Category: Neurology Source Type: research

Cerebellar Syndrome Associated with Thyroid Disorders
AbstractThyroid disorders, including hypothyroidism, hyperthyroidism and Hashimoto encephalopathy, are considered the most common cause of cerebellar dysfunction due to hormonal imbalance. Typically, cerebellar impairment occurs in the course of hypothyroidism and Hashimoto encephalopathy. Information about demographic, clinical and laboratory features of cerebellar disease associated with thyroid disorders is poor. Our review of the literature (1965 to 2018) identified 28 cases associated with hypothyroidism and 37 cases associated with Hashimoto encephalitis. Both patients with hypothyroidism and Hashimoto encephalopathy...
Source: The Cerebellum - August 6, 2019 Category: Neurology Source Type: research

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families
AbstractSpinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. The aims of this study were to characterize the phenotypic expression of SCA10 and to examine its genotype-phenotype relationships. Ninety-one Brazilian patients with SCA10 from 16 families were selected. Clinical and epidemiological data were assessed by a standardized protocol, and severity of disease was measured by the Scale for the Assessment and Rating of Ataxia (SARA). The mean age of onset of symptoms was 34.8  ±&thins...
Source: The Cerebellum - August 3, 2019 Category: Neurology Source Type: research

Cerebellar Involvement in DYT-THAP1 Dystonia
We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. To study cerebellar involvement in our patient, we used a TMS protocol called cerebellar inhibition (CBI). The lack of CBI in our patient strongly suggests cerebellar involvement. According to our findings, cerebellar syndrome may be part of the phenotypical spectrum of DYT-THAP1 mutations. (Source: The Cerebellum)
Source: The Cerebellum - July 31, 2019 Category: Neurology Source Type: research

ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
AbstractSpinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higherATXN10 mutability. High frequency of large normal alleles is associated with prevalence and relative frequency of other repeat expansion diseases. To test whether the allele distribution of the SCA10-causingATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. TheATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to th...
Source: The Cerebellum - July 24, 2019 Category: Neurology Source Type: research

Language Cerebro-cerebellar Reorganization in Children After Surgery of Right Cerebellar Astrocytoma: a fMRI Study
AbstractLanguage processing depends on an integrated circuit involving the left supratentorial language areas and the right posterior lateral cerebellar hemisphere (lobule VI, lobule VII, Crus I, and Crus II). Reorganization of the language system after lesions of the cerebral language areas includes also cerebellar relocation. This is the first study assessing functional language reorganization after lesions concerning primarily the cerebellum, using a fMRI paradigm of phonological covert word production task in six children operated for right cerebellar astrocytoma and in 15 typically  developing children. We found ...
Source: The Cerebellum - July 19, 2019 Category: Neurology Source Type: research

Spinocerebellar Ataxia Type 28 —Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
AbstractWhile heterozygous mutations in theAFG3L2 gene have been linked to spinocerebellar ataxia 28 (SCA28), homozygous mutations in the same gene can cause spastic ataxia 5 (SPAX5).AFG3L2 encodes a mitochondrial ATP-dependent metalloprotease. We here report a SCA28 patient with biallelicAFG3L2 variants and his heterozygous mother. The patient and his mother underwent a detailed neurological examination and fibroblast lines were established. The effect of the two missense variants on mitochondria was assessed by form factor analysis and quantification of mitochondrial proteins (TOMM70, complex V). The 39-year-old index pa...
Source: The Cerebellum - July 19, 2019 Category: Neurology Source Type: research

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
AbstractInherited disorders of spasticity or ataxia exist on a spectrum with overlapping causative genes and phenotypes. We investigated the use of whole-genome sequencing (WGS) to detect a genetic cause when considering this spectrum of disorders as a single group. We recruited 18 Korean individuals with spastic paraplegia with or without cerebellar ataxia in whom common causes of hereditary cerebellar ataxia and hereditary spastic paraplegia had been excluded. We performed WGS with analysis for single nucleotide variants, small insertions and deletions, copy number variants (CNVs), structural variants (SVs) and intronic ...
Source: The Cerebellum - July 19, 2019 Category: Neurology Source Type: research

Cerebellar Transcranial Direct Current Stimulation Enhances Motor Learning in a Complex Overhand Throwing Task
AbstractCerebellar transcranial direct current stimulation (c-tDCS) enhances motor adaptation, skill acquisition, and learning in relatively simple motor tasks. The purpose was to examine the influence of c-tDCS on motor learning in a complex overhand throwing task. Forty-two young adults were randomized to a c-tDCS group or a SHAM group and completed a practice session and a retention session. The practice session involved an overhand throwing task to a small target (6  m away) in a pre-test block, 6 practice blocks, a post-test block, and a retention-test block (24 h later). c-tDCS or SHAM was applied during ov...
Source: The Cerebellum - July 19, 2019 Category: Neurology Source Type: research

Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma
AbstractA patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and neurodevelop...
Source: The Cerebellum - July 18, 2019 Category: Neurology Source Type: research

Analysis of Visuospatial Abilities in Chiari Malformation Type I
This study contributes towards the reinforcement of the evidence on the cognitive alterations associated to CM-I. (Source: The Cerebellum)
Source: The Cerebellum - July 8, 2019 Category: Neurology Source Type: research

Dynamic Expression and New Functions of Early B Cell Factor 2 in Cerebellar Development
AbstractThe collier/Olf1/EBF family genes encode helix-loop-helix transcription factors (TFs) highly conserved in evolution, initially characterized for their roles in the immune system and in various aspects of neural development. TheEarly B cell Factor 2 (Ebf2) gene plays an important role in the establishment of cerebellar cortical topography and in Purkinje cell (PC) subtype specification. In the adult cerebellum,Ebf2 is expressed in zebrin II (ZII)-negative PCs, where it suppresses the ZII+ molecular phenotype. However, it is not clear whetherEbf2 is restricted to a PC subset from the onset of its expression or is ini...
Source: The Cerebellum - July 4, 2019 Category: Neurology Source Type: research

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders. The work of this task force was based on a previously published systematic scoping review of the literature that identified autosomal recessive disorders characterized primarily by cerebellar motor dysfunction and cerebellar degeneration. The task force regrouped 12 international...
Source: The Cerebellum - July 2, 2019 Category: Neurology Source Type: research

Focal Leg Dystonia Associated with Cerebellar Infarction and Application of Low-Frequency Cerebellar Transcranial Magnetic Stimulation: Evidence of Topographically Specific Cerebellar Contribution to Dystonia Development
AbstractThe cerebellum has recently been highlighted as a key neural substrate responsible for dystonia. A 57-year-old female presented with isolated focal leg dystonia that developed 8  years after acute cerebellar infarction. Brain magnetic resonance imaging showed an old cerebellar infarct in the right anterior cerebellum. Low-frequency cerebellar repetitive transcranial magnetic stimulation on the right cerebellum partially improved dystonia in this patient. This case provides valuable evidence on cerebellar mechanisms related to the development of dystonia in a topographically specific manner. Cerebellar brain st...
Source: The Cerebellum - June 29, 2019 Category: Neurology Source Type: research

The CHOPIn Study: a Multicenter Study on C erebellar H emorrhage and O utcome in P reterm I nfants
AbstractCerebellar hemorrhage (CBH) is a frequent complication of preterm birth and may play an important and under-recognized role in neurodevelopment outcome. Association between CBH size, location, and neurodevelopment is still unknown. The main objective of this study was to investigate neurodevelopmental outcome at 2  years of age in a large number of infants with different patterns of CBH. Of preterm infants (≤ 34 weeks) with known CBH, perinatal factors, neuro-imaging findings, and follow-up at 2 years of age were retrospectively collected. MRI scans were reassessed to determine the exact si...
Source: The Cerebellum - June 27, 2019 Category: Neurology Source Type: research

Frequency and Genetic Profile of Compound Heterozygous Friedreich ’s Ataxia Patients—the Brazilian Experience
AbstractFriedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It is caused by a homozygous GAA expansion in the first intron of the frataxin gene (FXN) (OMIM: 606829) in 96% of the affected individuals. The remaining patients have a GAA expansion in one allele and a point mutation in the other. Little is known about compound heterozygous patients outside Europe and North America. We have thus designed a study to determine the frequency and mutational profile of these patients in Brazil. To accomplish that, we recruited all patients with ataxia and at least one expanded GAA allele ...
Source: The Cerebellum - June 26, 2019 Category: Neurology Source Type: research

(Source: The Cerebellum)
Source: The Cerebellum - June 21, 2019 Category: Neurology Source Type: research

The Role of Astrocytes in the Development of the Cerebellum
AbstractAstrocytes, initially described as merely support cells, are now known as a heterogeneous population of cells actively involved in a variety of biological functions such as: neuronal migration and differentiation; regulation of cerebral blood flow; metabolic control of extracellular potassium concentration; and modulation of synapse formation and elimination; among others. Cerebellar glial cells have been shown to play a significant role in proliferation, differentiation, migration, and synaptogenesis. However, less evidence is available about the role of neuron-astrocyte interactions during cerebellar development ...
Source: The Cerebellum - June 19, 2019 Category: Neurology Source Type: research

Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia
AbstractTo report three cases of autoimmune ataxia patients with positive neurochondrin (NCDN) antibodies. Patients with unknown cerebellar ataxia were screened for autoimmune cerebellar ataxia (ACA)-related antibodies, including glutamic acid decarboxylase 65 (GAD65), delta/notch-like epidermal growth factor-related receptor (Tr/DNER), zinc finger protein 4 (ZIC4), inositol 1,4,5-triphosphate receptor 1 (ITPR1), Homer protein homologue 3 (Homer-3), neurochondrin (NCDN), Purkinje cell antibody 2 (PCA-2) and carbonic anhydrase-related protein VII (CARPVII). The antibodies were assessed by indirect immunofluorescence using t...
Source: The Cerebellum - June 10, 2019 Category: Neurology Source Type: research

Cerebellar Transcranial Direct Current Stimulation Improves Reactive Response Inhibition in Healthy Volunteers
AbstractInvolvement of the cerebellum to non-motor related aspects of behavior is becoming increasingly clear. The aim of this study was to investigate the role of the cerebellum in reactive and proactive behavioral control and interference. In a double-blind controlled within-subject design, 26 healthy volunteers underwent real and sham cerebellar transcranial direct current stimulation (tDCS) while performing a go/no-go task and a delay discounting task. Results showed that the number of go/no-go commission errors was significantly lower during real as compared with sham cerebellar tDCS. No effects of tDCS were observed ...
Source: The Cerebellum - June 8, 2019 Category: Neurology Source Type: research

Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias
AbstractOculomotor abnormalities are common in the spinocerebellar ataxias (SCAs). In studies of SCAs 1, 2, 3, and 6, eye movement abnormalities correlate with disease severity. Oculomotor abnormalities may be the sole motor manifestation of early and/or premanifest disease; however, not all ataxia rating scales include oculomotor assessment. We sought to identify the prevalence and characteristics of oculomotor abnormalities at first presentation in a large SCA cohort, including those in earlier stages of disease. We performed a retrospective assessment of initial clinical examinations of SCA patients followed in the Mass...
Source: The Cerebellum - June 7, 2019 Category: Neurology Source Type: research

Consensus Paper: Experimental Neurostimulation of the Cerebellum
We report on the most advanced techniques for manipulating cerebellar circuits in humans and animal models and define key hurdles and questions for moving forward. (Source: The Cerebellum)
Source: The Cerebellum - June 4, 2019 Category: Neurology Source Type: research

Paraneoplastic Cerebellar Degeneration in Nasopharyngeal Carcinoma: a Unique Association
AbstractParaneoplastic cerebellar degeneration (PCD) is a rare disorder that is associated with lung or gynecological malignancies and Hodgkin lymphoma. Neurologic symptoms are commonly the initial presenting sign leading to the diagnosis of an underlying malignancy. We are presenting an Asian male with progressive lower extremity weakness with EBV-positive nasopharyngeal carcinoma (NPC) and anti-Yo antibodies. Peculiarly, transient diffuse leptomeningeal enhancement is seen on MR imaging. This is the first report of PCD associated with NPC and thus illustrates that PCD embodies a boarder set of disease than previously des...
Source: The Cerebellum - June 3, 2019 Category: Neurology Source Type: research

Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach
AbstractCerebellar ataxias are a clinically heterogeneous group of neurological disorders. Besides the cerebellum, several forms of hereditary ataxias or non-genetic ataxias also affect other areas of the brain. Some forms of cerebellar ataxias may have cochlear and vestibular involvement and may present with deafness and symptoms or signs of vestibulopathy (dizziness, nystagmus and diplopia). Recognizing otoneurological symptoms in patients with cerebellar ataxias is mandatory, since these signs may guide a specific diagnosis, and clinicians may provide a suitable therapeutic approach. In this review, we describe and disc...
Source: The Cerebellum - June 1, 2019 Category: Neurology Source Type: research

Vestibular Hyperreflexia and Opsoclonus in Acute Hepatitis A Virus Infection
(Source: The Cerebellum)
Source: The Cerebellum - June 1, 2019 Category: Neurology Source Type: research

Alterations in Cognition-Related Cerebello-Cerebral Networks in Multiple System Atrophy
AbstractWe aimed to elucidate the effect of cerebellar degeneration in relation to cognition in multiple system atrophy (MSA). Thirty-two patients diagnosed with probable MSA and 32 age- and gender-matched healthy controls (HCs) were enrolled. We conducted voxel-based morphometry (VBM) for anatomical images and independent component analysis (ICA), dual-regression analysis, and seed-based analysis for functional images with voxel-wise gray matter correction. In the MSA group, a widespread cerebellar volume loss was observed. ICA and dual-regression analysis showed lower functional connectivity (FC) in the left executive co...
Source: The Cerebellum - May 8, 2019 Category: Neurology Source Type: research

The Effect of Cerebellar tDCS on Sequential Motor Response Selection
AbstractTranscranial direct current stimulation (tDCS) transiently alters cortical excitability and synaptic plasticity. So far, few studies have investigated the behavioral effects of applying tDCS to the cerebellum. Given the cerebellum ’s inhibitory effects on cortical motor areas as well as its role in fine motor control and motor coordination, we investigated whether cerebellar tDCS can modulate response selection processes and motor sequence learning. Seventy-two participants received either cerebellar anodal (excitatory), ca thodal (inhibitory), or sham (placebo) tDCS while performing a serial reaction time ta...
Source: The Cerebellum - May 6, 2019 Category: Neurology Source Type: research

Activation of the Extrinsic and Intrinsic Apoptotic Pathways in Cerebellum of Kindled Rats
AbstractThe purpose of this study is to determine the activation of the extrinsic and intrinsic apoptotic pathways in the cerebellum of rats exposed to amygdaloid electrical kindling. Western blot analyses were carried out for caspase-8 and caspase-9, Bid, Bax, and Bcl-2 in the cerebellum and immunohistochemistry of Bid, Bax, cytochrome C, and VDAC (voltage-dependent anion channels) in the cerebellar cortex of Wistar male rats with 0, 15, and 45 kindling stimulations. In the experimental group of 45 stimuli, we observed an increase in protein activation of caspase-9 and truncated Bid and Bax, in addition to a decrease in e...
Source: The Cerebellum - May 6, 2019 Category: Neurology Source Type: research

Measurement of Projections Between Dentate Nucleus and Contralateral Frontal Cortex in Human Brain Via Diffusion Tensor Tractography
AbstractWe propose a probabilistic fiber-tracking scheme to reconstruct the fiber tracts between the dentate nucleus (DN) in the cerebellum and the entire contralateral cerebral frontal cortex in the human brain. We assessed diffusion tensor imaging (DTI) data from 39 healthy controls. The connection fibers between the DN and contralateral frontal cortex of all subjects were successfully reconstructed and studied. We demonstrated that multi-fiber probabilistic models must be used to resolve the challenge of crossing fibers. We also demonstrated that the entire pathway can be reconstructed without using any synaptic regions...
Source: The Cerebellum - May 6, 2019 Category: Neurology Source Type: research

Sven Ingvar (1889 –1947) of Lund University and the Centennial of His Landmark Dissertation on Cerebellar Phylo-Ontogeny
AbstractIn January 1919, Sven Ingvar (1889 –1947) defended his doctoral dissertation (required for the M.D. degree) on cerebellar phylogeny, development, and function at Lund University, Sweden. The work was supervised by Cornelius U. Ariëns Kappers (1877–1946) in Amsterdam and by Karl Petrén (1868–1927) in Lund. A physician of many interests, Ingvar became professor of Practical Medicine in his alma mater. His cerebellar papers, spanning over a decade, are the contributions that gained him international recognition in the neurological sciences. A key discovery was the demonstration, with the ...
Source: The Cerebellum - May 3, 2019 Category: Neurology Source Type: research

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
AbstractSYNE1 gene mutations were identified as a cause of late-onset pure cerebellar syndrome. Non-cerebellar symptoms, including cognitive impairment, were already described in this condition. The aim of this study was to perform a detailed cognitive and psychiatric description of patients withSYNE1 gene mutations. We performed neuropsychological and psychiatric evaluations of six patients withSYNE1 ataxia and compared their performance with 18 normal controls paired for age and education level.SYNE1 ataxia patients present cognitive dysfunction, characterized by impairment in attention and processing speed domains. Othe...
Source: The Cerebellum - May 2, 2019 Category: Neurology Source Type: research

Distillation of Posterior Fossa Demyelination in Acute Vestibular Syndrome: the Eyes Have It
AbstractSeparating the etiologies of an acute vestibular syndrome (AVS) of central origin is a clinical challenge; the common causes include (1) stroke of the brainstem/cerebellum and (2) demyelinating disorders such as multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). Overshadowed by the vascular etiologies, the literature describing AVS due to demyelinating disorders has been growing through the last decade. The discovery of IgG-NMO, a specific pathogenic antibody directed against the astrocytic water channel aquaporin-4 (AQP4), has improved the differential diagnoses between MS and NMOSD. AQP4 ...
Source: The Cerebellum - April 27, 2019 Category: Neurology Source Type: research

The Responsiveness of Triaxial Accelerometer Measurement of Gait Ataxia Is Higher than That of the Scale for the Assessment and Rating of Ataxia in the Early Stages of Spinocerebellar Degeneration
We reported previously that the average medial –lateral gait amplitude while walking on a straight path determined using triaxial accelerometers fixed on the middle of the upper back may be a quantitative and concise indicator for the severity of cerebellar ataxia. Considering that gait ataxia is a typical initial symptom in a variety of spino cerebellar degeneration (SCD), we aimed to develop quantitative biomarkers for cerebellar ataxia as metric variables. We used triaxial accelerometers to analyze gait parameters in 14 patients with SCD at 3 points over 3 years (at baseline, 1.5 years and 3 years)....
Source: The Cerebellum - April 16, 2019 Category: Neurology Source Type: research

Characteristics of Tremor Induced by Lesions of the Cerebellum
AbstractIt is a clinical experience that acute lesions of the cerebellum induce pathological tremor, which tends to improve. However, quantitative characteristics, imaging correlates, and recovery of cerebellar tremor have not been systematically investigated. We studied the prevalence, quantitative parameters measured with biaxial accelerometry, and recovery of pathological tremor in 68 patients with lesions affecting the cerebellum. We also investigated the correlation between the occurrence and characteristics of tremor and lesion localization using 3D T1-weighted MRI images which were normalized and segmented according...
Source: The Cerebellum - April 8, 2019 Category: Neurology Source Type: research

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India
AbstractAutosomal recessive spastic ataxia of Charlevoix –Saguenay (ARSACS) is a rare neurodegenerative disorder characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy, and lower limb spasticity. Here, we present a 28-year-old male patient with symptoms of ARSACS and mild intellectual disability from a consanguin eous family of tribal J&K, India. Whole exome sequencing unraveled a novel homozygous frameshiftSACS mutation (Cys2869ValfsTer15) in the patient. In addition to the well-established ARSACS imaging features, MRI revealed T2 hyperintense rim around the thalami ( &ld...
Source: The Cerebellum - April 8, 2019 Category: Neurology Source Type: research