1,232 results match your criteria The Cerebellum [Journal]


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.

Cerebellum 2019 Apr 16. Epub 2019 Apr 16.

Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-ku, Sapporo, 060-8638, Japan.

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 spinocerebellar 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. Read More

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http://link.springer.com/10.1007/s12311-019-01025-5
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http://dx.doi.org/10.1007/s12311-019-01025-5DOI Listing
April 2019
2 Reads

Characteristics of Tremor Induced by Lesions of the Cerebellum.

Cerebellum 2019 Apr 8. Epub 2019 Apr 8.

Department of Neurology, National Institute of Clinical Neurosciences, Amerikai út 57, Budapest, 1145, Hungary.

It 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. Read More

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http://dx.doi.org/10.1007/s12311-019-01027-3DOI Listing

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Cerebellum 2019 Apr 8. Epub 2019 Apr 8.

Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Autosomal 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 consanguineous family of tribal J&K, India. Whole exome sequencing unraveled a novel homozygous frameshift SACS mutation (Cys2869ValfsTer15) in the patient. Read More

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http://dx.doi.org/10.1007/s12311-019-01028-2DOI Listing
April 2019
1 Read

Cerebellar Activation During Reading Tasks: Exploring the Dichotomy Between Motor vs. Language Functions in Adults of Varying Reading Proficiency.

Cerebellum 2019 Apr 4. Epub 2019 Apr 4.

Department of Communication Sciences and Disorders, Faculty of Rehabilitation Medicine, University of Alberta, 2-70 8205 114 Street, Edmonton, AB, T6G 2G4, Canada.

The nature and extent to which the cerebellum contributes to language processing is not clear. By using fMRI to examine differences in activation intensity in areas associated with motor and language processes, we advance our understanding of how this subcortical structure contributes to language and, more specifically, reading. Functional magnetic resonance imaging data was collected from two groups of adults. Read More

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http://dx.doi.org/10.1007/s12311-019-01024-6DOI Listing
April 2019
4 Reads

Secretagogin Immunoreactivity Reveals Lugaro Cells in the Pigeon Cerebellum.

Cerebellum 2019 Mar 23. Epub 2019 Mar 23.

Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, T6G 2E9, Canada.

Lugaro cells are inhibitory interneurons found in the upper granular layer of the cerebellar cortex, just below or within the Purkinje cell layer. They are characterized by (1) a fusiform soma oriented in the parasagittal plane, (2) two pairs of dendrites emanating from opposite ends of the soma, (3) innervation from Purkinje cell collaterals, and (4) an axon that projects into the molecular layer akin to granular cell parallel fibers. Lugaro cells have been described in mammals, but not in other vertebrate classes, save one report in teleost fish. Read More

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http://dx.doi.org/10.1007/s12311-019-01023-7DOI Listing

Human Brain Region-Specific Alternative Splicing of TRPC3, the Type 3 Canonical Transient Receptor Potential Non-Selective Cation Channel.

Cerebellum 2019 Mar 18. Epub 2019 Mar 18.

Translational Neuroscience Facility and Department of Physiology, School of Medical Sciences, The University of New South Wales, Sydney, New South Wales, 2052, Australia.

Canonical transient receptor potential (TRPC) non-selective cation channels are broadly expressed by neurons, glia and the microvasculature of the brain. In neurons and astrocytes, these ion channels are coupled to group I metabotropic glutamate receptors via Gαq-phospholipase C signal transduction. In the mouse cerebellar Purkinje neurons, TRPC channels assembled as tetramers of TRPC3 subunits exclusively mediate this glutamatergic signalling mechanism and regulation of alternative splicing results in dominance of a high Ca conducting TRPC3c isoform. Read More

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http://dx.doi.org/10.1007/s12311-019-01026-4DOI Listing

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.

Cerebellum 2019 Mar 8. Epub 2019 Mar 8.

Molecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.

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http://link.springer.com/10.1007/s12311-019-01011-x
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http://dx.doi.org/10.1007/s12311-019-01011-xDOI Listing
March 2019
4 Reads
2.864 Impact Factor

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Cerebellum 2019 Mar 5. Epub 2019 Mar 5.

Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074, Aachen, Germany.

The original version of this article unfortunately contained mistake in Fig. 3 image. Read More

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http://dx.doi.org/10.1007/s12311-019-01021-9DOI Listing
March 2019
2.864 Impact Factor

Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.

Cerebellum 2019 Mar 4. Epub 2019 Mar 4.

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Cerebellar degenerative pathology has been identified in tremor patients; however, how the degenerative pathology could contribute to tremor remains unclear. If the cerebellar degenerative pathology can directly drive tremor, one would hypothesize that tremor is likely to occur in the diseases of cerebellar ataxia and follows the disease progression in such disorders. To further test this hypothesis, we studied the occurrence of tremor in different disease stages of classical cerebellar degenerative disorders: spinocerebellar ataxias (SCAs). Read More

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http://dx.doi.org/10.1007/s12311-019-01016-6DOI Listing

Cerebellar Transcranial Direct Current Stimulation (ctDCS) Ameliorates Phantom Limb Pain and Non-painful Phantom Limb Sensations.

Cerebellum 2019 Mar 4. Epub 2019 Mar 4.

Section of Neurophysiopathology, Department of Clinical and Experimental Medicine, University of Pisa, Via Paradisa 2, 20142, Pisa, Italy.

Phantom limb pain (PLP) is a disabling and intractable sensation arising in about 80% of patients after amputation. The aim of this study was to evaluate the possibility to modulate nociceptive processing and pain perception with cerebellar transcranial direct current stimulation (ctDCS) in patients suffering from painful and non-painful phantom limb sensations. Fourteen upper limb amputees underwent ctDCS (anodal or sham, 2. Read More

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http://dx.doi.org/10.1007/s12311-019-01020-wDOI Listing
March 2019
2 Reads

The Cerebellar Thalamus.

Cerebellum 2019 Mar 2. Epub 2019 Mar 2.

Service de Neurologie, CHU-Charleroi, Charleroi, Belgium.

The thalamus is a neural processor and integrator for the activities of the forebrain. Surprisingly, little is known about the roles of the "cerebellar" thalamus despite the anatomical observation that all the cortico-cerebello-cortical loops make relay in the main subnuclei of the thalamus. The thalamus displays a broad range of electrophysiological responses, such as neuronal spiking, bursting, or oscillatory rhythms, which contribute to precisely shape and to synchronize activities of cortical areas. Read More

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http://dx.doi.org/10.1007/s12311-019-01019-3DOI Listing
March 2019
2 Reads

Comparison of Ocular Motor Findings Between Neuromyelitis Optica Spectrum Disorder and Multiple Sclerosis Involving the Brainstem and Cerebellum.

Cerebellum 2019 Mar 2. Epub 2019 Mar 2.

Department of Neurology, Seoul National University College of Medicine, Seoul, South Korea.

This study aimed to define the clinical features and involved structures that aid in differentiation of neuromyelitis optica spectrum disorder (NMOSD) from multiple sclerosis (MS) involving the brainstem and cerebellum. We analyzed the clinical and ocular motor findings, and lesion distribution on brain MRIs in 42 patients with MS (17 men, mean age ± SD = 37 ± 12) and 26 with NMOSD (3 men, mean age ± SD = 43 ± 15) that were recruited from two university hospitals in South Korea (whole study population). An additional subgroup analysis was also conducted in 41 patients presenting acute brainstem or vestibular syndrome (brainstem syndrome population). Read More

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http://dx.doi.org/10.1007/s12311-019-01018-4DOI Listing

Neural Scaffolding as the Foundation for Stable Performance of Aging Cerebellum.

Cerebellum 2019 Mar 2. Epub 2019 Mar 2.

First Department of Neurology, Faculty of Medicine, University Hospital of St. Anne, Masaryk University, Brno, Czech Republic.

Although recently conceptualized as a neural node essential for a vast spectrum of associative and cognitive processes, the cerebellum has largely eluded attention in the research of aging, where it is marginalized mainly to structural analyses. In the current cross-sectional study of 67 healthy subjects of various ages (20 to 76 years), we sought to provide a comprehensive, multimodal account of age-related changes in the cerebellum during predictive motor timing, which was previously shown to engage this structure. We combined behavioral assessments of performance with functional MRI and voxel-based morphometry using an advanced method to avoid cerebellar deformation and registration imprecisions inherent to the standard processing at the whole-brain level. Read More

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http://dx.doi.org/10.1007/s12311-019-01015-7DOI Listing

Cerebellar Theta Frequency Transcranial Pulsed Stimulation Increases Frontal Theta Oscillations in Patients with Schizophrenia.

Cerebellum 2019 Mar 1. Epub 2019 Mar 1.

Department of Psychiatry, University of Iowa, 169 Newton Road, 2336 PBDB, Iowa City, IA, 52242, USA.

Cognitive dysfunction is a pervasive and disabling aspect of schizophrenia without adequate treatments. A recognized correlate to cognitive dysfunction in schizophrenia is attenuated frontal theta oscillations. Neuromodulation to normalize these frontal rhythms represents a potential novel therapeutic strategy. Read More

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http://link.springer.com/10.1007/s12311-019-01013-9
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http://dx.doi.org/10.1007/s12311-019-01013-9DOI Listing
March 2019
6 Reads

Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy.

Cerebellum 2019 Feb 28. Epub 2019 Feb 28.

Laboratory of Stress, Immunity, and Pathogens EA7300, and CHRU of Nancy, University of Lorraine, 54500, Vandoeuvre-les-Nancy, France.

Chance discovery of spontaneous mutants with atrophy of the cerebellar cortex has unearthed genes involved in optimizing motor coordination. Rotorod, stationary beam, and suspended wire tests are useful in delineating behavioral phenotypes of spontaneous mutants with cerebellar atrophy such as Grid2, Grid2, Rora, Agtpbp1, Reln, and Dab1. Likewise, transgenic or null mutants serving as experimental models of spinocerebellar ataxia (SCA) are phenotyped with the same tests. Read More

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http://link.springer.com/10.1007/s12311-019-01017-5
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http://dx.doi.org/10.1007/s12311-019-01017-5DOI Listing
February 2019
5 Reads

Differential Expression of Genes for Ubiquitin Ligases in Medulloblastoma Subtypes.

Cerebellum 2019 Feb 27. Epub 2019 Feb 27.

Department of Community Health Sciences, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Using publically available datasets on gene expression in medulloblastoma (MB) subtypes, we selected genes for ubiquitin ligases and identified statistically those that best predicted each of the four major MB subgroups as separate disease entities. We identify a gene coding for an ubiquitin ligase, ZNRF3, whose overexpression alone can predict the WNT subgroup for 100% in the Pfister dataset. For the SHH subgroup, we identify a gene for a regulatory subunit of the protein phosphatase 2A (PP2A), PPP2R2C, as the major predictor among the E3 ligases genes. Read More

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http://dx.doi.org/10.1007/s12311-019-1009-yDOI Listing
February 2019
1 Read
2.864 Impact Factor

The Cerebellum Modulates Attention Network Functioning: Evidence from a Cerebellar Transcranial Direct Current Stimulation and Attention Network Test Study.

Cerebellum 2019 Feb 23. Epub 2019 Feb 23.

Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università 30, 00185, Rome, Italy.

The functional domain of the cerebellum extends beyond its traditional role in motor control. In recent years, this structure has increasingly been considered to play a crucial role even in cognitive performance and attentional processes. Attention is defined as the ability to appropriately allocate processing resources to relevant stimuli. Read More

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http://link.springer.com/10.1007/s12311-019-01014-8
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http://dx.doi.org/10.1007/s12311-019-01014-8DOI Listing
February 2019
3 Reads

Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).

Cerebellum 2019 Feb 18. Epub 2019 Feb 18.

Cancer and Neuroscience, UQ Centre for Clinical Research (UQCCR), The University of Queensland, Building 71/918, Royal Brisbane and Women's Hospital Campus, Brisbane, QLD, 4029, Australia.

Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by onset between 10 and 20 years of age and a range of neurological features that include progressive cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia in a majority of patients, and elevated serum alpha-fetoprotein (AFP). AOA2 is caused by mutation of the SETX gene which encodes senataxin, a DNA/RNA helicase involved in transcription regulation, RNA processing, and DNA maintenance. Disruption of senataxin in rodents led to defective spermatogenesis and sterility in males uncovering a key role for senataxin in male germ cell survival. Read More

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http://link.springer.com/10.1007/s12311-019-01012-w
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http://dx.doi.org/10.1007/s12311-019-01012-wDOI Listing
February 2019
9 Reads

Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template.

Cerebellum 2019 Feb 15. Epub 2019 Feb 15.

Department of Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls University, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

Whole-brain voxel-based morphometry (VBM) studies revealed patterns of patchy atrophy within the cerebellum of Friedreich's ataxia patients, missing clear clinico-anatomic correlations. Studies so far are lacking an appropriate registration to the infratentorial space. To circumvent these limitations, we applied a high-resolution atlas template of the human cerebellum and brainstem (SUIT template) to characterize regional cerebellar atrophy in Friedreich's ataxia (FRDA) on 3-T MRI data. Read More

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http://dx.doi.org/10.1007/s12311-019-1008-zDOI Listing
February 2019
12 Reads

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Cerebellum 2019 Feb 11. Epub 2019 Feb 11.

Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074, Aachen, Germany.

Nuclear pore complexes (NPCs) are the gateways of the nuclear envelope mediating transport between cytoplasm and nucleus. They form huge complexes of 125 MDa in vertebrates and consist of about 30 different nucleoporins present in multiple copies in each complex. Here, we describe pathogenic variants in the nucleoporin 93 (NUP93) associated with an autosomal recessive form of congenital ataxia. Read More

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http://dx.doi.org/10.1007/s12311-019-1010-5DOI Listing
February 2019
3 Reads
2.864 Impact Factor

An Improved Method for Differentiating Mouse Embryonic Stem Cells into Cerebellar Purkinje Neurons.

Cerebellum 2019 Feb 7. Epub 2019 Feb 7.

Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

While mixed primary cerebellar cultures prepared from embryonic tissue have proven valuable for dissecting structure-function relationships in cerebellar Purkinje neurons (PNs), this technique is technically challenging and often yields few cells. Recently, mouse embryonic stem cells (mESCs) have been successfully differentiated into PNs, although the published methods are very challenging as well. The focus of this study was to simplify the differentiation of mESCs into PNs. Read More

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http://dx.doi.org/10.1007/s12311-019-1007-0DOI Listing
February 2019
17 Reads

Effects of Physical Rehabilitation in Patients with Spinocerebellar Ataxia Type 7.

Cerebellum 2019 Jan 30. Epub 2019 Jan 30.

Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute- Luis Guillermo Ibarra Ibarra (INR-LGII), México-Xochimilco No. 289, Col. Arenal Guadalupe, C.P, 14389, Ciudad de México (CDMX), Mexico.

Today, neurorehabilitation has become in a widely used therapeutic approach in spinocerebellar ataxias; however, there are scarce powerful clinical studies supporting this notion, and these studies require extension to other specific SCA subtypes in order to be able to form conclusions concerning its beneficial effects. Therefore, in this study, we perform for the first time a case-control pilot randomized, single-blinded, cross-sectional, and observational study to evaluate the effects of physical neurorehabilitation on the clinical and biochemical features of patients with spinocerebellar ataxia type 7 (SCA7) in 18 patients diagnosed with SCA7. In agreement with the exercise regimen, the participants were assigned to groups as follows: (a) the intensive training group, (b) the moderate training group, and (c) the non-training group (control group). Read More

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http://link.springer.com/10.1007/s12311-019-1006-1
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http://dx.doi.org/10.1007/s12311-019-1006-1DOI Listing
January 2019
6 Reads

Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.

Cerebellum 2019 Jan 14. Epub 2019 Jan 14.

Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. SCA7 is quite rare, and insights into biomarkers and pre-clinical phases are still missing. We aimed to describe neurologic and ophthalmological findings observed in symptomatic and pre-symptomatic SCA7 subjects. Read More

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http://dx.doi.org/10.1007/s12311-019-1004-3DOI Listing
January 2019
4 Reads

Age-Dependent White Matter Characteristics of the Cerebellar Peduncles from Infancy Through Adolescence.

Cerebellum 2019 Jan 14. Epub 2019 Jan 14.

Department of Radiology, Lucile Packard Children's Hospital, Stanford University School of Medicine, Stanford, CA, 94305, USA.

Cerebellum-cerebrum connections are essential for many motor and cognitive functions and cerebellar disorders are prevalent in childhood. The middle (MCP), inferior (ICP), and superior cerebellar peduncles (SCP) are the major white matter pathways that permit communication between the cerebellum and the cerebrum. Knowledge about the microstructural properties of these cerebellar peduncles across childhood is limited. Read More

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http://dx.doi.org/10.1007/s12311-018-1003-9DOI Listing
January 2019
9 Reads

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.

Cerebellum 2019 Jan 11. Epub 2019 Jan 11.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

Recent advances in next-generation sequencing technologies have uncovered the genetic backgrounds of various diseases. Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. In this study, we aimed to review the previous reports of type 1 sialidosis and compare those with the first case of type 1 sialidosis in Korea. Read More

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http://link.springer.com/10.1007/s12311-019-1005-2
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http://dx.doi.org/10.1007/s12311-019-1005-2DOI Listing
January 2019
16 Reads
2.864 Impact Factor

Neural Evidence of the Cerebellum as a State Predictor.

Cerebellum 2019 Jan 9. Epub 2019 Jan 9.

Movement Disorders Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya, Tokyo, 156-8506, Japan.

We here provide neural evidence that the cerebellar circuit can predict future inputs from present outputs, a hallmark of an internal forward model. Recent computational studies hypothesize that the cerebellum performs state prediction known as a forward model. To test the forward-model hypothesis, we analyzed activities of 94 mossy fibers (inputs to the cerebellar cortex), 83 Purkinje cells (output from the cerebellar cortex to dentate nucleus), and 73 dentate nucleus cells (cerebellar output) in the cerebro-cerebellum, all recorded from a monkey performing step-tracking movements of the right wrist. Read More

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http://dx.doi.org/10.1007/s12311-018-0996-4DOI Listing
January 2019
6 Reads

Fall Risk in Relation to Individual Physical Activity Exposure in Patients with Different Neurodegenerative Diseases: a Pilot Study.

Cerebellum 2019 Jan 8. Epub 2019 Jan 8.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Falls in patients with neurodegenerative diseases (NDDs) have enormous detrimental consequences. A better understanding of the interplay between physical activity (PA) and fall risk might help to reduce fall frequency. We aimed to investigate the association between sensor-based PA and fall risk in NDDs, using "falls per individual PA exposure time" as a novel measure. Read More

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http://dx.doi.org/10.1007/s12311-018-1002-xDOI Listing
January 2019
18 Reads

Ocular Motor System Control Models and the Cerebellum: Hypothetical Mechanisms.

Cerebellum 2019 Jan 8. Epub 2019 Jan 8.

From the Daroff-Dell'Osso Ocular Motility Laboratory, Louis Stokes Cleveland Department of Veterans Affairs Medical Center and CASE Medical School; and the Department of Neurology, Case Western Reserve University and University Hospitals Case Medical Center, 10701 East Boulevard, Cleveland, OH, 44106, USA.

To review our studies and "top-down" models of saccadic intrusions and infantile nystagmus syndrome with the aim of hypothesizing areas of cerebellar connections controlling parts of the ocular motor subsystems involved in both types of function and dysfunction. The methods of eye-movement recording and modeling are described in detail in the cited references. Saccadic intrusions, such as square-wave jerks and square-wave oscillations, can be simulated by a single malfunction, whereas staircase saccadic intrusions required two independent malfunctions. Read More

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http://dx.doi.org/10.1007/s12311-018-1001-yDOI Listing
January 2019
2 Reads

Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17.

Cerebellum 2019 Jan 8. Epub 2019 Jan 8.

Department of Neurology, The Adelaide and Meath Hospitals, Tallaght, Dublin, Ireland.

SCA 17 is a rare, autosomal dominant disorder caused by TBP gene CAG/CAA repeat expansion. Ataxia and dementia are common. The presence of frontal dysfunction at outset of the disease may mimic frontotemporal dementia (FTD). Read More

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http://dx.doi.org/10.1007/s12311-018-0998-2DOI Listing
January 2019
8 Reads

The Cerebellum, THC, and Cannabis Addiction: Findings from Animal and Human Studies.

Cerebellum 2019 Jan 4. Epub 2019 Jan 4.

Pharmacy El Toro, La Fuente 11, 12429, El Toro, Castellon, Spain.

Cannabis is the third most used psychoactive drug worldwide. Despite being legally scheduled as a drug with high harm potential and no therapeutic utility in countries like the USA, evidence shows otherwise and legislative changes and reinterpretations of existing ambiguous laws make this drug increasingly available by legal means. Nevertheless, this substance is able to generate clear addiction syndromes in some individuals who use it, which are accompanied by brain alterations resembling those caused by other addictive drugs. Read More

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http://link.springer.com/10.1007/s12311-018-0993-7
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http://dx.doi.org/10.1007/s12311-018-0993-7DOI Listing
January 2019
15 Reads

Perverted Downward Corrective Saccades During Horizontal Head Impulses in Chiari Malformation.

Cerebellum 2019 Jan 4. Epub 2019 Jan 4.

Department of Neurology, Seoul National University College of Medicine, Seoul, South Korea.

The mechanism of perverted vertical responses during horizontal head impulse tests (HITs) requires further elucidation. A 47-year-old woman with a Chiari malformation showed alternating skew deviation, downbeat nystagmus with an increasing slow phase velocity, impaired smooth pursuit, and upward ocular deviation during horizontal HITs and corrective downward saccades in the presence of normal bithermal caloric tests and intact tilt suppressions of the post-rotatory nystagmus. These findings suggest dysfunction of the inferior cerebellum including the tonsil, nodulus, and uvula. Read More

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http://link.springer.com/10.1007/s12311-018-1000-z
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http://dx.doi.org/10.1007/s12311-018-1000-zDOI Listing
January 2019
14 Reads

Task Force Paper On Cerebellar Transplantation: Are We Ready to Treat Cerebellar Disorders with Cell Therapy?

Cerebellum 2019 Jan 3. Epub 2019 Jan 3.

Department of Neurology, CHU-Charleroi, 6000, Charleroi, Belgium.

Restoration of damaged central nervous system structures, functional recovery, and prevention of neuronal loss during neurodegenerative diseases are major objectives in cerebellar research. The highly organized anatomical structure of the cerebellum with numerous inputs/outputs, the complexity of cerebellar functions, and the large spectrum of cerebellar ataxias render therapies of cerebellar disorders highly challenging. There are currently several therapeutic approaches including motor rehabilitation, neuroprotective drugs, non-invasive cerebellar stimulation, molecularly based therapy targeting pathogenesis of the disease, and neurotransplantation. Read More

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http://dx.doi.org/10.1007/s12311-018-0999-1DOI Listing
January 2019
2 Reads

Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.

Cerebellum 2019 Jan 3. Epub 2019 Jan 3.

Department of Neurology, University Hospital Zurich, Frauenklinikstr. 26, 8091, Zurich, Switzerland.

Here we describe the case of a patient with episodic dizziness and gait imbalance for 7 years and a negative family history. On clinical examination, interictally, the patient presented with gaze-evoked nystagmus and rebound nystagmus and slight dysarthria. MRI of the brain was normal and peripheral-vestibular function was bilaterally intact. Read More

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http://dx.doi.org/10.1007/s12311-018-0997-3DOI Listing
January 2019
6 Reads

Revisiting the Clinical Phenomenology of "Cerebellar Tremor": Beyond the Intention Tremor.

Cerebellum 2018 Dec 18. Epub 2018 Dec 18.

Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.

Tremor is an involuntary, rhythmic, oscillatory movement of a body part. It is a central feature of a range of diseases resulting from pathological changes in the cerebellum. Interestingly, in modern times, the terms "cerebellar tremor" and "intention tremor" are often used synonymously and interchangeably. Read More

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http://link.springer.com/10.1007/s12311-018-0994-6
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http://dx.doi.org/10.1007/s12311-018-0994-6DOI Listing
December 2018
20 Reads

What Is Behind Cerebellar Vertigo and Dizziness?

Cerebellum 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurology, Ludwig-Maximilians University, Marchioninistrasse 15, 81377, Munich, Germany.

The differential diagnosis of vertigo or dizziness as a result of cerebellar disorders can be difficult as many patients with a cerebellar pathology do not present with the full spectrum of cerebellar signs. The main goal of this study was to describe the typical clinical features of these patients with vertigo or dizziness of a cerebellar origin. We reviewed the medical records of 5400 patients with vertigo and dizziness from our tertiary outpatient clinic for vertigo and balance disorders. Read More

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http://dx.doi.org/10.1007/s12311-018-0992-8DOI Listing
December 2018
8 Reads

Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia.

Cerebellum 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurology, Neurology Service, Cleveland VA Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44110, USA.

Ataxia-telangiectasia is the second most common autosomal recessive hereditary ataxia, with an estimated incidence of 1 in 100,000 births. Besides ataxia and ocular telangiectasias, eye movement abnormalities have long been associated with this disorder and is frequently present in almost all patients. A handful of studies have described the phenomenology of ocular motor deficits in ataxia-telangiectasia. Read More

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http://dx.doi.org/10.1007/s12311-018-0990-xDOI Listing
December 2018
7 Reads

Vertigo in Cerebellar Disease-Do the Eyes Have It or Is There More to Perceive?

Cerebellum 2018 Dec 12. Epub 2018 Dec 12.

Service de Neurologie, CHU-Charleroi, Charleroi, Belgium.

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http://dx.doi.org/10.1007/s12311-018-0995-5DOI Listing
December 2018
9 Reads

Neocerebellar Crus I Abnormalities Associated with a Speech and Language Disorder Due to a Mutation in FOXP2.

Cerebellum 2018 Nov 20. Epub 2018 Nov 20.

Cognitive Neuroscience and Neuropsychiatry Section, UCL Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

Bilateral volume reduction in the caudate nucleus has been established as a prominent brain abnormality associated with a FOXP2 mutation in affected members of the 'KE family', who present with developmental orofacial and verbal dyspraxia in conjunction with pervasive language deficits. Despite the gene's early and prominent expression in the cerebellum and the evidence for reciprocal cerebellum-basal ganglia connectivity, very little is known about cerebellar abnormalities in affected KE members. Using cerebellum-specific voxel-based morphometry (VBM) and volumetry, we provide converging evidence from subsets of affected KE members scanned at three time points for grey matter (GM) volume reduction bilaterally in neocerebellar lobule VIIa Crus I compared with unaffected members and unrelated controls. Read More

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http://dx.doi.org/10.1007/s12311-018-0989-3DOI Listing
November 2018
2 Reads

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2.

Cerebellum 2019 Apr;18(2):195

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

The original version of this article unfortunately contained a mistake. The spelling of the surname of one co-author from the publication entitled "Selective Forces Related to Spinocerebellar Ataxia Type 2" that was recently published in the journal "The Cerebelum" was incorrect. Read More

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http://dx.doi.org/10.1007/s12311-018-0991-9DOI Listing
April 2019
11 Reads

Abnormal Cerebellar Connectivity Patterns in Patients with Parkinson's Disease and Freezing of Gait.

Cerebellum 2018 Nov 3. Epub 2018 Nov 3.

Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.

In this study, we aimed to evaluate the importance of cerebellum in freezing of gait (FOG) pathophysiology. Due to the fundamental role of the cerebellum in posture and gait control, we examined cerebellar structural and functional connectivity (FC) in patients with PD and FOG. We recruited 15 PD with FOG (PD-FOG), 16 PD without FOG (PD-nFOG) patients, and 16 healthy subjects (HS). Read More

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http://dx.doi.org/10.1007/s12311-018-0988-4DOI Listing
November 2018
123 Reads

TRIM9 and TRIM67 Are New Targets in Paraneoplastic Cerebellar Degeneration.

Cerebellum 2019 Apr;18(2):245-254

French Reference Center for Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, F-69677, Bron, France.

To describe autoantibodies (Abs) against tripartite motif-containing (TRIM) protein 9 and 67 in two patients with paraneoplastic cerebellar degeneration (PCD) associated with lung adenocarcinoma. Abs were characterized using immunohistochemistry, Western blotting, cultures of murine cortical, and hippocampal neurons, immunoprecipitation, mass spectrometry, knockout mice for Trim9 and 67, and cell-based assay. Control samples included sera from 63 patients with small cell lung cancer without any paraneoplastic neurological syndrome, 36 patients with lung adenocarcinoma and PNS, CSF from 100 patients with autoimmune encephalitis, and CSF from 165 patients with neurodegenerative diseases. Read More

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http://link.springer.com/10.1007/s12311-018-0987-5
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http://dx.doi.org/10.1007/s12311-018-0987-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445697PMC
April 2019
29 Reads

Anti-GAD Antibodies and the Cerebellum: Where Do We Stand?

Cerebellum 2019 Apr;18(2):153-156

University of Washington, School of Medicine, Seattle, WA, 98109, USA.

Anti-GAD65 antibodies (anti-GAD65 Abs) are associated with cerebellar ataxia (CA). The significance of anti-GAD65 Abs has been a focus of debates. Since GAD65 is intracellularly located and associated with type 1 diabetes mellitus and different clinical neurological phenotypes such as CA, stiff-person syndrome, and epilepsy, some researchers have argued that anti-GAD65 Abs have no pathogenic roles. Read More

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http://link.springer.com/10.1007/s12311-018-0986-6
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http://dx.doi.org/10.1007/s12311-018-0986-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443918PMC
April 2019
13 Reads

The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia.

Cerebellum 2019 Apr;18(2):225-244

Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, 100 Cambridge Street, Suite 2000, Boston, MA, 02114, USA.

Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disease causing cerebellar ataxia, mucocutaneous telangiectasias, immunodeficiency, and malignancies. A pilot study reported cognitive and behavioral manifestations characteristic of the cerebellar cognitive affective / Schmahmann syndrome (CCAS). We set out to test and further define these observations because a more comprehensive understanding of the spectrum of impairments in AT is essential for optimal management. Read More

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http://link.springer.com/10.1007/s12311-018-0983-9
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http://dx.doi.org/10.1007/s12311-018-0983-9DOI Listing
April 2019
29 Reads

Modulatory Effects of Levodopa on Cerebellar Connectivity in Parkinson's Disease.

Cerebellum 2019 Apr;18(2):212-224

Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.

Levodopa has been the mainstay of symptomatic therapy for Parkinson's disease (PD) for the last five decades. However, it is associated with the development of motor fluctuations and dyskinesia, in particular after several years of treatment. The aim of this study was to shed light on the acute brain functional reorganization in response to a single levodopa dose. Read More

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http://dx.doi.org/10.1007/s12311-018-0981-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443641PMC
April 2019
17 Reads

Purkinje Neurons: Development, Morphology, and Function.

Authors:
Tomoo Hirano

Cerebellum 2018 Dec;17(6):699-700

Department of Biophysics, Graduate School of Science, Kyoto University, Sakyo-ku, Kyoto, 606-8502, Japan.

Cerebellar Purkinje neurons are arguably some of the most conspicuous neurons in the vertebrate central nervous system. They have characteristic planar fan-shaped dendrites which branch extensively and fill spaces almost completely with little overlap. This dendritic morphology is well suited to receiving a single or a few excitatory synaptic inputs from each of more than 100,000 parallel fibers which run orthogonally to Purkinje cell dendritic trees. Read More

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http://link.springer.com/10.1007/s12311-018-0985-7
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http://dx.doi.org/10.1007/s12311-018-0985-7DOI Listing
December 2018
24 Reads

Cerebellar Cortex as a Therapeutic Target for Neurostimulation.

Cerebellum 2018 Dec;17(6):777-787

Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, Charleroi, Belgium.

Non-invasive stimulation of the cerebellum is growingly applied both in the clinic and in research settings to modulate the activities of cerebello-cerebral loops. The anatomical location of the cerebellum, the high responsiveness of the cerebellar cortex to magnetic/electrical stimuli, and the implication of the cerebellum in numerous cerebello-cerebral networks make the cerebellum an ideal target for investigations and therapeutic purposes. In this mini-review, we discuss the potentials of cerebellar neuromodulation in major brain disorders in order to encourage large-scale sham-controlled research and explore this therapeutic aid further. Read More

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http://link.springer.com/10.1007/s12311-018-0976-8
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http://dx.doi.org/10.1007/s12311-018-0976-8DOI Listing
December 2018
15 Reads

Collaboration of Cerebello-Rubral and Cerebello-Striatal Loops in a Motor Preparation Task.

Cerebellum 2019 Apr;18(2):203-211

Centre de Recherches sur le Sport et le Mouvement, (CeRSM - EA 2931), UFR STAPS, UPL, Université Paris Nanterre, 200 avenue de la république, 92000, Nanterre, France.

In this study, we used fMRI to identify brain regions associated with concentration (sustained attention) during a motor preparation task. In comparison with a non-concentration task, increased activities were observed (P < 0.05, FWE-corrected P values) in cerebellar lobules VI and VII, motor cortex, pre-supplementary motor area (pre-SMA), thalamus, red nucleus (RN), and caudate nucleus (CN). Read More

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http://link.springer.com/10.1007/s12311-018-0980-z
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http://dx.doi.org/10.1007/s12311-018-0980-zDOI Listing
April 2019
4 Reads

Dendritic Self-Avoidance and Morphological Development of Cerebellar Purkinje Cells.

Cerebellum 2018 Dec;17(6):701-708

Institute for Integrated Cell-Material Sciences (WPI-iCeMS), Kyoto University, Kyoto, 606-8501, Japan.

Cerebellar Purkinje cells arborize unique dendrites that exhibit a planar, fan shape. The dendritic branches fill the space of their receptive field with little overlap. This dendritic arrangement is well-suited to form numerous synapses with the afferent parallel fibers of the cerebellar granule cells in a non-redundant manner. Read More

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http://link.springer.com/10.1007/s12311-018-0984-8
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http://dx.doi.org/10.1007/s12311-018-0984-8DOI Listing
December 2018
9 Reads

Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2).

Cerebellum 2019 Apr;18(2):196-202

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Parana, Rua General Carneiro, 181 - Alto da Glória, Curitiba, 80060-900, Brazil.

Spinocerebellar ataxia type 2 (SCA2) is characterized by a progressive cerebellar syndrome, and additionally saccadic slowing, cognitive dysfunction, and sleep disorders. The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Seventeen patients with genetically confirmed SCA2 from the Movement Disorders Outpatient group of the Hospital de Clínicas da UFPR were evaluated with a structured medical interview and the Scale for the Assessment and Rating of Ataxia (SARA). Read More

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http://dx.doi.org/10.1007/s12311-018-0982-xDOI Listing
April 2019
12 Reads

Consensus paper: Decoding the Contributions of the Cerebellum as a Time Machine. From Neurons to Clinical Applications.

Cerebellum 2019 Apr;18(2):266-286

Department of Psychology and Neuroscience, Duke University, Durham, NC, USA.

Time perception is an essential element of conscious and subconscious experience, coordinating our perception and interaction with the surrounding environment. In recent years, major technological advances in the field of neuroscience have helped foster new insights into the processing of temporal information, including extending our knowledge of the role of the cerebellum as one of the key nodes in the brain for this function. This consensus paper provides a state-of-the-art picture from the experts in the field of the cerebellar research on a variety of crucial issues related to temporal processing, drawing on recent anatomical, neurophysiological, behavioral, and clinical research. Read More

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http://dx.doi.org/10.1007/s12311-018-0979-5DOI Listing
April 2019
10 Reads