1,216 results match your criteria The Cerebellum [Journal]


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://dx.doi.org/10.1007/s12311-019-01012-wDOI Listing
February 2019

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

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
1 Read
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
1 Read

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://dx.doi.org/10.1007/s12311-019-1006-1DOI Listing
January 2019

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
2 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
1 Read

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
5 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
1 Read

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
3 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
1 Read

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
2 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
6 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
7 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
1 Read

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
1 Read

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
13 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
2 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
2 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
1 Read

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
1 Read

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

Cerebellum 2018 Nov 19. Epub 2018 Nov 19.

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
November 2018
6 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
108 Reads

TRIM9 and TRIM67 Are New Targets in Paraneoplastic Cerebellar Degeneration.

Cerebellum 2018 Oct 22. Epub 2018 Oct 22.

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
October 2018
20 Reads

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

Cerebellum 2018 Oct 20. Epub 2018 Oct 20.

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
October 2018
8 Reads

The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia.

Cerebellum 2018 Oct 18. Epub 2018 Oct 18.

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
October 2018
13 Reads

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

Cerebellum 2018 Oct 8. Epub 2018 Oct 8.

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
October 2018
13 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
18 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
9 Reads

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

Cerebellum 2018 Oct 1. Epub 2018 Oct 1.

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
October 2018
2 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
3 Reads

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

Cerebellum 2018 Sep 28. Epub 2018 Sep 28.

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
September 2018
4 Reads

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

Cerebellum 2018 Sep 27. Epub 2018 Sep 27.

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
September 2018
2 Reads

Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

Cerebellum 2018 Sep 18. Epub 2018 Sep 18.

Department of Neurology, Columbia University Medical Center, 650 West 168th Street, Room 305, New York, NY, 10032, USA.

Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function. Read More

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http://dx.doi.org/10.1007/s12311-018-0978-6DOI Listing
September 2018
1 Read

Selective Forces Related to Spinocerebellar Ataxia Type 2.

Cerebellum 2018 Sep 15. Epub 2018 Sep 15.

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

Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2. Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of anticipation in SCA2. Read More

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http://dx.doi.org/10.1007/s12311-018-0977-7DOI Listing
September 2018
3 Reads

Early Trajectory Prediction in Elite Athletes.

Cerebellum 2018 Dec;17(6):766-776

Department of Neuroscience, Erasmus MC, 3000 DR, Rotterdam, The Netherlands.

Cerebellar plasticity is a critical mechanism for optimal feedback control. While Purkinje cell activity of the oculomotor vermis predicts eye movement speed and direction, more lateral areas of the cerebellum may play a role in more complex tasks, including decision-making. It is still under question how this motor-cognitive functional dichotomy between medial and lateral areas of the cerebellum plays a role in optimal feedback control. Read More

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http://dx.doi.org/10.1007/s12311-018-0975-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208842PMC
December 2018
1 Read

Repeated Spiral Drawings in Essential Tremor: a Possible Limb-Based Measure of Motor Learning.

Cerebellum 2018 Sep 11. Epub 2018 Sep 11.

Department of Neurology, Clinical Motor Physiology Laboratory, Columbia University Medical Center, 710 West 168th Street, New York, NY, 10032, USA.

To investigate changes in tremor severity over repeated spiral drawings to assess whether learning deficits can be evaluated directly in a limb in essential tremor (ET). A motor learning deficit in ET, possibly mediated by cerebellar pathways, has been established in eye-blink conditioning studies, but not paradigms measuring from an affected, tremulous limb. Computerized spiral analysis captures multiple characteristics of Archimedean spirals and quantifies performance through calculated indices. Read More

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http://dx.doi.org/10.1007/s12311-018-0974-xDOI Listing
September 2018
1 Read

Extinction and Renewal of Conditioned Eyeblink Responses in Focal Cerebellar Disease.

Cerebellum 2018 Aug 28. Epub 2018 Aug 28.

Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Germany.

Extinction of conditioned aversive responses (CR) has been shown to be context-dependent. The hippocampus and prefrontal cortex are of particular importance. The cerebellum may contribute to context-related processes because of its known connections with the hippocampus and prefrontal cortex. Read More

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http://link.springer.com/10.1007/s12311-018-0973-y
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http://dx.doi.org/10.1007/s12311-018-0973-yDOI Listing
August 2018
18 Reads

Gravity-Independent Upbeat Nystagmus in Syndrome of Anti-GAD Antibodies.

Cerebellum 2018 Aug 22. Epub 2018 Aug 22.

Department of Neurology, Cleveland VA Medical Center, University Hospitals, Cleveland, OH, 44022, USA.

An autoimmune disorder of the central nervous system, stiff person syndrome, frequently presents with increased titers of 65KD anti-glutamic acid decarboxylase (anti-GAD) antibodies. The clinical phenomenology of this syndrome includes stiffness, ataxia, vertigo due to horizontal gaze-evoked and downbeat vertical nystagmus, and dysmetria of saccades and reaching movements. Here, we describe a novel phenomenology of syndrome of anti-GAD antibody, non-position-dependent upbeat nystagmus and superimposed horizontal gaze-evoked nystagmus. Read More

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http://link.springer.com/10.1007/s12311-018-0972-z
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http://dx.doi.org/10.1007/s12311-018-0972-zDOI Listing
August 2018
22 Reads

Both 50 and 30 Hz continuous theta burst transcranial magnetic stimulation depresses the cerebellum.

Cerebellum 2018 Aug 16. Epub 2018 Aug 16.

Department of Clinical Neurosciences, Faculty of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, AB, T2N4N1, Canada.

The cerebellum is implicated in the pathophysiology of numerous movement disorders, which makes it an attractive target for noninvasive neurostimulation. Continuous theta burst stimulation (cTBS) can induce long lasting plastic changes in human brain; however, the efficacy of different simulation protocols has not been investigated at the cerebellum. Here, we compare a traditional 50-Hz and a modified 30-Hz cTBS protocols at modulating cerebellar activity in healthy subjects. Read More

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http://link.springer.com/10.1007/s12311-018-0971-0
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http://dx.doi.org/10.1007/s12311-018-0971-0DOI Listing
August 2018
16 Reads

Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism.

Cerebellum 2018 Aug 14. Epub 2018 Aug 14.

Department of Experimental and Clinical Physiology, Center for Preclinical Research, Medical University of Warsaw, Warsaw, Poland.

This review considers a link between prematurity and autism by comparing symptoms, physiological abnormalities, and behavior. It focuses on the bidirectional signaling between the microbiota and the brain, here defined as the microbiota-gut-vagus-heart-brain (MGVHB) axis and its systemic disruption accompanying altered neurodevelopment. Data derived from clinical and animal studies document increased prevalence of gastrointestinal, cardiovascular, cognitive, and behavioral symptoms in both premature and autistic children and suggest an incomplete maturation of the gut-blood barrier resulting in a "leaky gut," dysbiosis, abnormalities in vagal regulation of the heart, altered development of specific brain regions, and behavior. Read More

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http://dx.doi.org/10.1007/s12311-018-0970-1DOI Listing
August 2018
13 Reads

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Cerebellum 2019 Feb;18(1):137-146

Department of Neurogenetics, Kolling Institute, University of Sydney and Northern Sydney Local Health District, St Leonards, Australia.

Genetic testing strategies such as next-generation sequencing (NGS) panels and whole genome sequencing (WGS) can be applied to the hereditary cerebellar ataxias (HCAs), but their exact role in the diagnostic pathway is unclear. We aim to determine the yield from genetic testing strategies and the genetic and phenotypic spectrum of HCA in Australia by analysing real-world data. We performed a retrospective review on 87 HCA cases referred to the Neurogenetics Clinic at the Royal North Shore Hospital, Sydney, Australia. Read More

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http://dx.doi.org/10.1007/s12311-018-0969-7DOI Listing
February 2019
3 Reads

Patients with Cerebellar Ataxia Do Not Benefit from Limb Weights.

Cerebellum 2019 Feb;18(1):128-136

Kennedy Krieger Institute, 707 N. Broadway St., Baltimore, MD, 21205, USA.

Patients with cerebellar ataxia are sometimes treated by the addition of mass to the limbs, though this practice has received limited study. Recent work suggests that adding mass to the limbs might have predictable effects on the pattern of cerebellar dysmetria (i.e. Read More

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http://dx.doi.org/10.1007/s12311-018-0962-1DOI Listing
February 2019
1 Read

Depressed by Learning-Heterogeneity of the Plasticity Rules at Parallel Fiber Synapses onto Purkinje Cells.

Cerebellum 2018 Dec;17(6):747-755

Department of Neurobiology, Stanford University, Stanford, CA, 94305, USA.

Climbing fiber-driven long-term depression (LTD) of parallel fiber synapses onto cerebellar Purkinje cells has long been investigated as a putative mechanism of motor learning. We recently discovered that the rules governing the induction of LTD at these synapses vary across different regions of the cerebellum. Here, we discuss the design of LTD induction protocols in light of this heterogeneity in plasticity rules. Read More

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http://dx.doi.org/10.1007/s12311-018-0968-8DOI Listing
December 2018
1 Read

Cellular and Subcellular Localization of Endogenous Neuroligin-1 in the Cerebellum.

Cerebellum 2018 Dec;17(6):709-721

Department of Physiology, Keio University School of Medicine, Tokyo, 160-8582, Japan.

Synapses are precisely established, maintained, and modified throughout life by molecules called synaptic organizers, which include neurexins and neuroligins (Nlgn). Despite the importance of synaptic organizers in defining functions of neuronal circuits, the cellular and subcellular localization of many synaptic organizers has remained largely elusive because of the paucity of specific antibodies for immunohistochemical studies. In the present study, rather than raising specific antibodies, we generated knock-in mice in which a hemagglutinin (HA) epitope was inserted in the Nlgn1 gene. Read More

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http://dx.doi.org/10.1007/s12311-018-0966-xDOI Listing
December 2018
1 Read

Transcranial Direct Current Stimulation to Assist Experienced Pistol Shooters in Gaining Even-Better Performance Scores.

Cerebellum 2019 Feb;18(1):119-127

Neuroscience Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.

Recently, brain stimulation has been considered as a promising method for the empowerment of athletes' performance. This study recruited 16 pistol shooters who were randomly assigned to two arms, including the control receiving no intervention and the experimental group receiving either sham or real transcranial direct current stimulation (tDCS), i.e. Read More

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http://dx.doi.org/10.1007/s12311-018-0967-9DOI Listing
February 2019
2 Reads

Cerebellar Structural Variations in Subjects with Different Hypnotizability.

Cerebellum 2019 Feb;18(1):109-118

I.R.C.C.S. Santa Lucia Foundation, Rome, Italy.

Hypnotizability-the proneness to accept suggestions and behave accordingly-has a number of physiological and behavioral correlates (postural, visuomotor, and pain control) which suggest a possible involvement of cerebellar function and/or structure. The present study was aimed at investigating the association between cerebellar macro- or micro-structural variations (analyzed through a voxel-based morphometry and a diffusion tensor imaging approach) and hypnotic susceptibility. We also estimated morphometric variations of cerebral gray matter structures, to support current evidence of hypnotizability-related differences in some cerebral areas. Read More

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http://dx.doi.org/10.1007/s12311-018-0965-yDOI Listing
February 2019
8 Reads

Multiple Phases of Climbing Fiber Synapse Elimination in the Developing Cerebellum.

Cerebellum 2018 Dec;17(6):722-734

Department of Anatomy, Graduate School of Medicine, Hokkaido University, Sapporo, 060-8638, Japan.

Functional neural circuits in the mature animals are shaped during postnatal development by elimination of unnecessary synapses and strengthening of necessary ones among redundant synaptic connections formed transiently around birth. In the cerebellum of neonatal rodents, excitatory synapses are formed on the somata of Purkinje cells (PCs) by climbing fibers (CFs) that originate from neurons in the contralateral inferior olive. Each PC receives inputs from multiple (~ five) CFs that have about equal synaptic strengths. Read More

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http://dx.doi.org/10.1007/s12311-018-0964-zDOI Listing
December 2018
2 Reads

Regulation and Interaction of Multiple Types of Synaptic Plasticity in a Purkinje Neuron and Their Contribution to Motor Learning.

Authors:
Tomoo Hirano

Cerebellum 2018 Dec;17(6):756-765

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

There are multiple types of plasticity at both excitatory glutamatergic and inhibitory GABAergic synapses onto a cerebellar Purkinje neuron (PN). At parallel fiber to PN synapses, long-term depression (LTD) and long-term potentiation (LTP) occur, while at molecular layer interneuron to PN synapses, a type of LTP called rebound potentiation (RP) takes place. LTD, LTP, and RP seem to contribute to motor learning. Read More

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http://dx.doi.org/10.1007/s12311-018-0963-0DOI Listing
December 2018
10 Reads

Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells.

Cerebellum 2019 Feb;18(1):99-108

McKnight Brain Institute, University of Florida, Gainesville, FL, USA.

Cerebellar Purkinje cells (PCs) show conspicuous damages in many ataxic disorders. Targeted delivery of short nucleic acids, such as antisense oligonucleotides, to PCs may be a potential treatment for ataxic disorders, especially spinocerebellar ataxias (SCAs), which are mostly caused by a gain of toxic function of the mutant RNA or protein. However, oligonucleotides do not cross the blood-brain barrier (BBB), necessitating direct delivery into the central nervous system (CNS) through intra-thecal, intra-cisternal, intra-cerebral ventricular, or stereotactic parenchymal administration. Read More

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http://dx.doi.org/10.1007/s12311-018-0961-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326905PMC
February 2019
13 Reads