126,219 results match your criteria cerebellar cortical dysplasia


NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Hum Mol Genet 2020 Oct 26. Epub 2020 Oct 26.

Regeneron Genetics Center, Tarrytown NY 10591.

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability. Microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurological hallmarks in affected individuals. NMIHBA is caused by biallelic variants in PRUNE1 encoding prune exopolyphosphatase 1. Read More

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http://dx.doi.org/10.1093/hmg/ddaa237DOI Listing
October 2020

Ocular Motor and Vestibular Characteristics of Antiglutamic Acid Decarboxylase-Associated Neurologic Disorders.

J Neuroophthalmol 2020 Oct 22. Epub 2020 Oct 22.

Department of Neurology, Johns Hopkins University, Baltimore, Maryland.

Background: Antiglutamic acid decarboxylase (GAD)-associated neurologic disorders are rare, with varied presentations, including stiff-person syndrome (SPS) and cerebellar ataxia (CA). Vestibular and ocular motor (VOM) dysfunction can be the main presentation in a subset of patients.

Methods: Retrospective review of the Johns Hopkins Hospital medical records from 1997 to 2018 identified a total of 22 patients with a diagnosis of anti-GAD-associated SPS or CA who had detailed VOM assessments. Read More

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http://dx.doi.org/10.1097/WNO.0000000000001084DOI Listing
October 2020

Severity-Dependent Effects of Parkinson's Disease on Perception of Visual and Vestibular Heading.

Mov Disord 2020 Oct 26. Epub 2020 Oct 26.

Department of Biomedical Engineering, Case Western Reserve University, Cleveland, Ohio, USA.

Objectives: Parkinson's disease (PD) commonly affects visuospatial navigation causing postural instability and falls. Our overarching aim was to examine the visual and vestibular systems governing visuospatial navigation in PD. We hypothesize that PD affects vestibular and visual motion perception but to a different extent. Read More

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http://dx.doi.org/10.1002/mds.28352DOI Listing
October 2020

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Brain 2020 Oct;143(10):2911-2928

INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.

Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. Read More

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http://dx.doi.org/10.1093/brain/awaa235DOI Listing
October 2020

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Brain 2020 Oct;143(10):2904-2910

Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected individuals. Read More

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http://dx.doi.org/10.1093/brain/awaa263DOI Listing
October 2020

RXH-Reactive F-Vinyl Sulfones as Versatile Agents for PET Probe Construction.

Bioconjug Chem 2020 Oct 25. Epub 2020 Oct 25.

Department of Radiology and Biomedical Research Imaging Center, University of North Carolina at Chapel Hill, 125 Mason Farm Road, Chapel Hill, North Carolina 27599, United States.

Efficient radiolabeling reactions are important chemical tools in biomedical research especially in probe construction. Herein, three F-labeled vinyl sulfones were prepared. In particular, F-PEG1-VS (((2-(2-(fluoro-F)ethoxy)ethyl)sulfonyl)ethane) could not only allow chemoselective labeling of bioactive molecules containing -XH (X = S, NH) groups, but also react with red blood cells both and in living mice for potential cell tracking applications. Read More

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http://dx.doi.org/10.1021/acs.bioconjchem.0c00487DOI Listing
October 2020

Inhibitory interneurons in a brainstem circuit adjust their inhibitory motifs to process multimodal input.

J Physiol 2020 Oct 25. Epub 2020 Oct 25.

Kresge Hearing Research Institute, Department of Otolaryngology, University of Michigan, Ann Arbor, Michigan, 48109, USA.

Key Points: Inhibitory-interneuron networks, consisting of multiple forms of circuit motifs including reciprocal (inhibitory interneurons inhibiting other interneurons) and feedforward (inhibitory interneurons inhibiting principal neurons) connections, are crucial in processing sensory information. The present study applies a statistical method to in vivo multichannel spike trains of dorsal cochlear nucleus neurons to disentangle reciprocal and feedforward-inhibitory motifs. After inducing input-specific plasticity, reciprocal and feedforward inhibition are found to be differentially regulated, and the combined effect synergistically modulates circuit output. Read More

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http://dx.doi.org/10.1113/JP280741DOI Listing
October 2020

Successful basilar artery dilatation in pure bilateral cerebral peduncular infarctions using balloon angioplasty.

eNeurologicalSci 2020 Dec 10;21:100282. Epub 2020 Oct 10.

Department of Neurology, Geriatrics Research Institute and Hospital, 3-26-8 Otomocho, Maebashi, Gunma 371-0847, Japan.

•An extremely rare case of bilateral cerebral peduncular infarctions (BCPI) is reported.•The detection of the pure Mickey Mouse ears sign on MRI is an indicator of a need for reperfusion therapy.•Severe stenosis of the basilar artery (BA) and a poor collateral supply from both posterior cerebral arteries were seen. Read More

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http://dx.doi.org/10.1016/j.ensci.2020.100282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569187PMC
December 2020

Cerebral Pulsed Arterial Spin Labeling Perfusion Weighted Imaging Predicts Language and Motor Outcomes in Neonatal Hypoxic-Ischemic Encephalopathy.

Front Pediatr 2020 25;8:576489. Epub 2020 Sep 25.

Children's Hospital of Philadelphia, Philadelphia, PA, United States.

To compare cerebral pulsed arterial spin labeling (PASL) perfusion among controls, hypoxic ischemic encephalopathy (HIE) neonates with normal conventional MRI(HIE/MRI⊕), and HIE neonates with abnormal conventional MRI(HIE/MRI⊖). To create a predictive machine learning model of neurodevelopmental outcomes using cerebral PASL perfusion. A total of 73 full-term neonates were evaluated. Read More

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http://dx.doi.org/10.3389/fped.2020.576489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546822PMC
September 2020

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2020 Oct 7;10:39. Epub 2020 Oct 7.

Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, BR.

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia.

Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Read More

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http://dx.doi.org/10.5334/tohm.557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546098PMC
October 2020

High Frequency Deep Brain Stimulation of Superior Cerebellar Peduncles in a Patient with Cerebral Palsy.

Tremor Other Hyperkinet Mov (N Y) 2020 Oct 7;10:38. Epub 2020 Oct 7.

Department of Neurosurgery, Center for Functional Neurosurgery, Ruijin Hospital, affiliated with Shanghai Jiaotong University School of Medicine, Shanghai, CN.

Background: Globus pallidus internus (GPi) deep brain stimulation (DBS) is widely used in patients with isolated dystonia; however, its use remains controversial in patients with acquired dystonia and cerebral palsy.

Case Presentation: We report the first case of a cerebral palsy patient, who failed to recover 2 years after GPi DBS; DBS was administered on both superior cerebellar peduncles (SCPs) and dentate nuclei (DNs). The monopolar stimulation results suggested that DBS was better administered via the SCPs than via the DNs. Read More

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http://dx.doi.org/10.5334/tohm.551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546102PMC
October 2020

Esophageal Gastrointestinal Stromal Tumor with Rare Intracranial Metastasis.

Case Rep Gastrointest Med 2020 11;2020:8842006. Epub 2020 Oct 11.

Serviço de Medicina Interna, ULSAM-Hospital de Santa Luzia, Viana Do Castelo, Portugal.

. Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors and constitute the largest group of nonepithelial digestive neoplasms. However, they do not represent more than 1% of primary digestive tumors. Read More

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http://dx.doi.org/10.1155/2020/8842006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576366PMC
October 2020

Bilateral Vertebral Artery Dissection: A Case Report with Literature Review.

Case Rep Med 2020 25;2020:8180926. Epub 2020 May 25.

Internal Medicine Department, Beaumont Hospital, Royal Oak, MI, USA.

Vertebral artery dissection (VAD) is a rare cause of ischemic stroke in young patients. The largely nonspecific symptoms and delayed presentation pose a serious diagnostic challenge. Medical management with either anticoagulation or antiplatelet therapy is recommended, but there are no reports of successful dual therapy. Read More

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http://dx.doi.org/10.1155/2020/8180926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568148PMC

Identification of a Twelve-Gene Signature and Establishment of a Prognostic Nomogram Predicting Overall Survival for Medulloblastoma.

Front Genet 2020 3;11:563882. Epub 2020 Sep 3.

Department of Neurosurgery and Neuro-Oncology, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, China.

Background: Medulloblastoma is the common pediatric malignant tumor with poor prognosis in cerebellum. However, MB is always with clinical heterogeneity. To provide patients with more clinically beneficial treatment strategies, there is a pressing need to develop a new prognostic prediction model as a supplement to the prediction outcomes of clinical judgment. Read More

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http://dx.doi.org/10.3389/fgene.2020.563882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495025PMC
September 2020

Reduced Global-Brain Functional Connectivity of the Cerebello-Thalamo-Cortical Network in Patients With Dry Eye Disease.

Front Hum Neurosci 2020 25;14:572693. Epub 2020 Sep 25.

Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

The pathophysiology of patients with dry eye disease (DED) is associated with abnormal functional connectivity (FC). The present study aims to probe alterations of voxel-wise brain-wide FC in patient with DED at rest in an unbiased way. A total of 20 patients with DED and 23 controls matched by age, sex, and years of education underwent resting-state functional magnetic resonance imaging scans. Read More

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http://dx.doi.org/10.3389/fnhum.2020.572693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546321PMC
September 2020

S100B Impairs Oligodendrogenesis and Myelin Repair Following Demyelination Through RAGE Engagement.

Front Cell Neurosci 2020 4;14:279. Epub 2020 Sep 4.

Neuron Glia Biology in Health and Disease, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Lisboa, Portugal.

Increased expression of S100B and its specific receptor for advanced glycation end products (RAGE) has been described in patients with multiple sclerosis (MS), being associated with an active demyelinating process. We previously showed that a direct neutralization of S100B reduces lysophosphatidylcholine (LPC)-induced demyelination and inflammation using an demyelinating model. However, whether S100B actions occur through RAGE and how oligodendrogenesis and remyelination are affected are not clarified. Read More

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http://dx.doi.org/10.3389/fncel.2020.00279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7500156PMC
September 2020

Investigation on the Alteration of Brain Functional Network and Its Role in the Identification of Mild Cognitive Impairment.

Front Neurosci 2020 30;14:558434. Epub 2020 Sep 30.

Division of Interdisciplinary Medicine and Biotechnology, Department of Medicine, Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA, United States.

Mild cognitive impairment (MCI) is generally regarded as a prodromal stage of Alzheimer's disease (AD). In coping with the challenges caused by AD, we analyzed resting-state functional magnetic resonance imaging data of 82 MCI subjects and 93 normal controls (NCs). The alteration of brain functional network in MCI was investigated on three scales, including global metrics, nodal characteristics, and modular properties. Read More

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http://dx.doi.org/10.3389/fnins.2020.558434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556272PMC
September 2020

Timing to surgery of Chiari malformation type 1 affects complication types: An analysis of 13,812 patients.

J Craniovertebr Junction Spine 2020 Jul-Sep;11(3):232-236. Epub 2020 Aug 14.

Department of Orthopedics, NYU Langone Orthopedic Hospital, New York, USA.

Background: Chiari malformations (CM) are congenital defects due to hypoplasia of the posterior fossa with cerebellar herniation into the foramen magnum and upper spinal canal. Despite the vast research done on this neurological and structural syndrome, clinical features and management options have not yet conclusively evolved. Quantification of proper treatment planning, can lead to potential perioperative benefits based on diagnoses and days to procedure. Read More

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http://dx.doi.org/10.4103/jcvjs.JCVJS_67_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546060PMC

Isoniazid: A rare drug-induced cause for bilateral dentate nuclei hyperintensity.

Indian J Radiol Imaging 2020 Apr-Jun;30(2):218-221. Epub 2020 Jul 13.

Senior Consultant Radiologist and HOD, Consultant Radiologist, Consultant Radiologist, Department of Radiology and Imaging Sciences, Meenakshi Hospital, Tanjore, Tamil Nadu, India.

Dentate nucleus, the largest deep nucleus of the cerebellum, is affected by numerous conditions, including leukodystrophies, toxins, drugs, infections, and various metabolic and inflammatory conditions. This case report is a drug-induced cerebellitis, caused by isoniazid (INH), characterized in magnetic resonance imaging (MRI) as bilateral dentate nuclei hyperintensity. Isoniazid, an antituberculosis therapy (ATT) drug, is both neurotoxic and hepatotoxic but cerebellitis is a rare complication. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_421_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546307PMC

Distant Coupling between RNA Editing and Alternative Splicing of the Osmosensitive Cation Channel Tmem63b.

J Biol Chem 2020 Oct 25. Epub 2020 Oct 25.

the Model Animal Research Center, Nanjing University, China.

Post-transcriptional modifications of pre-mRNAs expand the diversity of proteomes in higher eukaryotes. In brain, these modifications diversify the functional output of many critical neuronal signal molecules. In this study, we identified a brain-specific A-to-I RNA editing that changed glutamine to arginine (Q/R) at exon 20 and an alternative splicing of exon 4 in , which encodes a ubiquitously expressed osmosensitive cation channel. Read More

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http://dx.doi.org/10.1074/jbc.RA120.016049DOI Listing
October 2020

Systemic dendrimer-drug nanomedicines for long-term treatment of mild-moderate cerebral palsy in a rabbit model.

J Neuroinflammation 2020 Oct 25;17(1):319. Epub 2020 Oct 25.

Department of Anesthesiology and Critical Care, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Background: Neuroinflammation mediated by microglia plays a central role in the pathogenesis of perinatal/neonatal brain injury, including cerebral palsy (CP). Therapeutics mitigating neuroinflammation potentially provide an effective strategy to slow the disease progression and rescue normal brain development. Building on our prior results which showed that a generation-4 hydroxyl poly(amidoamine) (PAMAM) dendrimer could deliver drugs specifically to activated glia from systemic circulation, we evaluated the sustained efficacy of a generation-6 (G6) hydroxyl-terminated PAMAM dendrimer that showed a longer blood circulation time and increased brain accumulation. Read More

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http://dx.doi.org/10.1186/s12974-020-01984-1DOI Listing
October 2020

Parvovirus-induced encephalitis in a juvenile raccoon.

J Vet Diagn Invest 2020 Oct 26:1040638720967381. Epub 2020 Oct 26.

Baker Institute for Animal Health, Department of Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, NY.

A juvenile raccoon was euthanized because of severe neurologic signs. At postmortem examination, no significant gross lesions were present. Histologic evaluation demonstrated nonsuppurative encephalitis in thalamus, brainstem, and hippocampus, cerebellar Purkinje cell loss, as well as poliomyelitis and demyelination of the spinal cord. Read More

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http://dx.doi.org/10.1177/1040638720967381DOI Listing
October 2020

Normal Mouse Brain Proteome II: Analysis of Brain Regions by High-resolution Mass Spectrometry.

Cancer Genomics Proteomics 2020 Nov-Dec;17(6):757-767

Proteomics Research Unit, Biomedical Research Foundation of the Academy of Athens, Athens, Greece

Background/aim: Proteomics technologies provide fundamental insights into the high organizational complexity and diversity of the central nervous system. In the present study, high-resolution mass spectrometry (MS) was applied in order to identify whole-proteome content of anatomically distinct and functionally specific mouse brain regions.

Materials And Methods: Brains from eight 8-week-old C57BL/6N normal male mice were separated into seven anatomically district regions. Read More

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http://dx.doi.org/10.21873/cgp.20230DOI Listing

Differential value of external anal- and urethral-sphincter electromyography in multiple system atrophy cerebellar type and spinocerebellar ataxias.

J Clin Neurosci 2020 Oct 15;80:16-22. Epub 2020 Aug 15.

Department of Neurology, Sixth Medical Center of Chinese PLA General Hospital, Beijing, China. Electronic address:

Objective: Clinically differentiating multiple system atrophy cerebellar type (MSA-C) and spinocerebellar ataxias (SCAs) is challenging, especially at early disease stages, because of their similarities in clinical manifestation and imaging results. The purpose of this study was to explore the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) for distinguishing between MSA-C and SCAs.

Methods: A total of 51 subjects, including 33 MSA-C and 18 SCAs, were recruited. Read More

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http://dx.doi.org/10.1016/j.jocn.2020.07.067DOI Listing
October 2020

Validation of housekeeping genes as an internal control for gene expression studies in the brain of ovariectomized rats treated with tibolone.

Gene 2020 Oct 21:145255. Epub 2020 Oct 21.

Unidad de Investigación Médica en Farmacología, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Av. Cuauhtémoc 330, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address:

Introduction: In the central nervous system (CNS), tibolone actions are mainly modulated through its interaction with estrogen receptors and progesterone and androgen receptors. Several studies have reported the expression of sex hormone receptors in the CNS using the RTPCR endpoint technique. Although some studies have validated reference genes for rat brain tissue in different experimental conditions, no suitable reference genes in brain tissue from ovariectomized rats treated with tibolone have been reported. Read More

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http://dx.doi.org/10.1016/j.gene.2020.145255DOI Listing
October 2020

Silver nanocolloid affects hindbrain vascular formation during medaka embryogenesis.

Environ Toxicol 2020 Oct 24. Epub 2020 Oct 24.

Graduate School of Life Sciences, Toyo University, Itakura, Japan.

Angiogenesis is essential for the normal development of an embryo. Silver nanocolloid (SNC) is known to induce vascular malformation in the medaka embryo. We focused on the development of the central arteries (CtAs) in the hindbrain of Japanese medaka. Read More

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http://dx.doi.org/10.1002/tox.23047DOI Listing
October 2020

Thiamine Deficiency Increases Intrinsic Excitability of Mouse Cerebellar Purkinje Cells.

Cerebellum 2020 Oct 24. Epub 2020 Oct 24.

Graduate Program in Neuroscience, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Thiamine deficiency is associated with cerebellar dysfunction; however, the consequences of thiamine deficiency on the electrophysiological properties of cerebellar Purkinje cells are poorly understood. Here, we evaluated these parameters in brain slices containing cerebellar vermis. Adult mice were maintained for 12-13 days on a thiamine-free diet coupled with daily injections of pyrithiamine, an inhibitor of thiamine phosphorylation. Read More

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http://dx.doi.org/10.1007/s12311-020-01202-xDOI Listing
October 2020

Proposed radiological score for the evaluation of isolated fourth ventricle treated by endoscopic aqueductoplasty.

Childs Nerv Syst 2020 Oct 24. Epub 2020 Oct 24.

Department of Surgery, Faculty of Medicine and Department of Pediatric Neurosurgery of Hospital das Clínicas, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

Purpose: Evidence supporting the effectiveness of endoscopic aqueductoplasty (EA) for the treatment of isolated fourth ventricle (IFV) is limited to small surgical series of cases. Additionally, studies adopted different radiological outcome criteria, which makes it difficult to compare outcomes accurately. Thus, we aimed to develop a radiological score (RS) as an alternative assessment method for EA. Read More

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http://dx.doi.org/10.1007/s00381-020-04937-4DOI Listing
October 2020

Non-invasive assessment of cerebral microvascular changes for predicting postoperative cerebral hyperperfusion after surgical revascularisation for moyamoya disease: an arterial spin labelling MRI study.

Neuroradiology 2020 Oct 24. Epub 2020 Oct 24.

Department of Neurosurgery, Post Graduate institute of Medical Education and Research, Chandigarh, India.

Purpose: Cerebral hyperperfusion syndrome (CHPS) can result after anastomotic surgery as the reperfusion is established in chronically ischemic cerebral territories in patients of moyamoya disease (MMD). In this study, we have evaluated the feasibility of arterial spin labelling (ASL) perfusion MRI to predict cerebral hyperperfusion syndrome based on changes of cerebral blood flow (CBF) after revascularisation surgery in patients of MMD.

Methods: Our prospective study included 25 patients with MMD who underwent superficial temporal artery-middle cerebral artery (STA-MCA) bypass with or without dural/muscle synangiosis. Read More

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http://dx.doi.org/10.1007/s00234-020-02583-wDOI Listing
October 2020

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de novo CACNA1G gain-of-function pathogenic variants. All patients with SCA42ND show cerebellar atrophy and/or hypoplasia on neuroimaging and share common features such as dysmorphic features, global developmental delay, and axial hypotonia, all manifesting within the first year of life. To date, only 10 patients with SCA42ND have been reported with functionally confirmed gain-of-function variants, bearing either of two recurrent pathogenic variants. Read More

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http://dx.doi.org/10.1002/ajmg.a.61939DOI Listing
October 2020

Outcomes at 6 months are related to brain structural and white matter microstructural reorganization in idiopathic tinnitus patients treated with sound therapy.

Hum Brain Mapp 2020 Oct 24. Epub 2020 Oct 24.

Department of Radiology, Beijing Friendship Hospital, Capital Medical University, Beijing, People's Republic of China.

This study aimed to explore brain structural and white matter microstructural reorganization in the early stage of tinnitus and identify brain alterations that contribute to its relief after 6 months of sound therapy. We studied 64 patients with idiopathic tinnitus, including 29 patients who were categorized into an effective group (EG) and 35 who were categorized into an ineffective group (IG) according to the 6-month follow-up improvement of the Tinnitus Handicap Inventory score, along with 63 healthy controls (HCs). All participants underwent structural and diffusion tensor imaging scanning on a 3-T magnetic resonance system. Read More

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http://dx.doi.org/10.1002/hbm.25260DOI Listing
October 2020

A causal role for the cerebellum in semantic integration: a transcranial magnetic stimulation study.

Sci Rep 2020 Oct 23;10(1):18139. Epub 2020 Oct 23.

Department of Brain and Behavioral Sciences, University of Pavia, via Bassi 21, 27100, Pavia, Italy.

Mounting evidence suggests that the cerebellum, a structure previously linked to motor function, is also involved in a wide range of non-motor processes. It has been proposed that the cerebellum performs the same computational processes in both motor and non-motor domains. Within motor functions, the cerebellum is involved in the integration of signals from multiple systems. Read More

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http://dx.doi.org/10.1038/s41598-020-75287-zDOI Listing
October 2020

The Pathophysiology of Dystonic Tremors and Comparison with Essential Tremor.

J Neurosci 2020 Oct 22. Epub 2020 Oct 22.

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA, 20892-1428.

There are two types of dystonic tremor syndromes (DTS), dystonic tremor (DT) and tremor associated with dystonia (TAWD), and neither is understood. DTS likely share some mechanisms with non-tremulous dystonia, and there may also be overlaps with essential tremor. We studied 21 ET (8 females, 13 males) and 22 DTS human patients (10 females, 12 males), including 13 human patients with DT (DT; writer's cramp with writing tremor) and 9 human patients with tremor associated with dystonia (TAWD; cervical dystonia with hand tremor). Read More

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http://dx.doi.org/10.1523/JNEUROSCI.1181-20.2020DOI Listing
October 2020

CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.

Dis Model Mech 2020 Oct 12;13(10). Epub 2020 Oct 12.

Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany

C-terminus of HSC70-interacting protein (CHIP) encoded by the gene is a co-chaperone and E3 ligase that acts as a key regulator of cellular protein homeostasis. Mutations in cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16) with widespread neurodegeneration manifesting as spastic-ataxic gait disorder, dementia and epilepsy. CHIP mice display severe cerebellar atrophy, show high perinatal lethality and impaired heat stress tolerance. Read More

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http://dx.doi.org/10.1242/dmm.045096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578354PMC
October 2020

Supra and infratentorial massive strokes in previously healthy young patients with SARS-CoV-2. The role of neurosurgery.

Neurocirugia (Astur) 2020 Sep 6. Epub 2020 Sep 6.

Neurocritical Intensive Unit, Universitary Hospital Clínico San Carlos, Madrid, Spain.

The coronavirus disease 2019 (COVID-19) has amazed by its distinct forms of presentation and severity. COVID-19 patients can develop large-scale ischemic strokes in previously healthy patients without risk factors, especially in patients who develop an acute respiratory distress syndrome (SARS-CoV-2). We hypothesize that ischemic events are usually the result of the combined process of a pro-inflammatory and pro-coagulant state plus vascular endothelial dysfunction probably potentiated by hypoxia, hemodynamic instability, and immobilization, as reported in other cases. Read More

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http://dx.doi.org/10.1016/j.neucir.2020.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474918PMC
September 2020

Revesz syndrome revisited.

Orphanet J Rare Dis 2020 Oct 23;15(1):299. Epub 2020 Oct 23.

Department of Pediatrics, University Medical Center Mannheim, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.

Background: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature.

Methods: To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe. Read More

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http://dx.doi.org/10.1186/s13023-020-01553-yDOI Listing
October 2020

Chronic Valproic Acid Administration Increases Plasma, Liver, and Brain Ammonia Concentration and Suppresses Glutamine Synthetase Activity.

Brain Sci 2020 Oct 21;10(10). Epub 2020 Oct 21.

Neuroimaging Research Branch, IRP, National Institute on Drug Abuse, National Institutes of Health, Biomedical Research Center, Baltimore, MD 21224, USA.

Asymptomatic valproic acid (VPA)-induced hyperammonemia in the absence of liver impairment is fairly common. However, the underlying mechanisms through which VPA causes elevation in plasma ammonia (NH) remains under investigation. Male Sprague Dawley rats ( = 72) were randomly allocated to receive VPA 400 mg/kg, 200 mg/kg, or vehicle IP daily for either 8, 14, or 28 consecutive days. Read More

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http://dx.doi.org/10.3390/brainsci10100759DOI Listing
October 2020

Fourth ventricle tumors in children: complications and influence of surgical approach.

J Neurosurg Pediatr 2020 Oct 23:1-10. Epub 2020 Oct 23.

1Department of Neurosurgery, Great Ormond Street Hospital for Children, London.

Objectives: The goal of this study was to characterize the complications and morbidity related to the surgical management of pediatric fourth ventricle tumors.

Methods: All patients referred to the authors' institution with posterior fossa tumors from 2002 to 2018 inclusive were screened to include only true fourth ventricle tumors. Preoperative imaging and clinical notes were reviewed to extract data on presenting symptoms; surgical episodes, techniques, and adjuncts; tumor histology; and postoperative complications. Read More

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http://dx.doi.org/10.3171/2020.6.PEDS2089DOI Listing
October 2020

Cognitive Dysfunction and Neurophysiological Mechanism of Breast Cancer Patients undergoing Chemotherapy Based on RS fMRI Images.

World Neurosurg 2020 Oct 20. Epub 2020 Oct 20.

Department of Medical Imaging, Cancer Hospital of China Medical University, Liaoning Cancer Hospital & Institute, Shenyang, 110042, China;. Electronic address:

Thesis studied chemotherapy-related cognitive impairment via RS-fMRI and DTI. Chemotherapy were included 19 cases of patients with early breast cancer, neuropsychological tests were carried out before and after chemotherapy, RS-fMRI and DTI evaluation. In RS-fMRI with ReHo reflects brain activity. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.10.066DOI Listing
October 2020

Hippocampal connectivity in Amyotrophic Lateral Sclerosis (ALS): more than Papez circuit impairment.

Brain Imaging Behav 2020 Oct 23. Epub 2020 Oct 23.

Department of Advanced Medical and Surgical Sciences, MRI Research Center SUN-FISM, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.

Emerging evidence suggests that memory deficit in amyotrophic lateral sclerosis (ALS), a neurodegenerative disease with varying impairment of motor abilities and cognitive profile, may be independent from executive dysfunction. Our multimodal magnetic resonance imaging (MRI) approach, including resting state functional MRI (RS-fMRI), diffusion tensor imaging (DTI) and voxel-based morphometry (VBM), aimed to investigate structural and functional changes within and beyond the Papez circuit in non-demented ALS patients (n = 32) compared with healthy controls (HCs, n = 21), and whether these changes correlated with neuropsychological measures of verbal and non-verbal memory. We revealed a decreased functional connectivity between bilateral hippocampus, bilateral parahippocampal gyri and cerebellum in ALS patients compared with HCs. Read More

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http://dx.doi.org/10.1007/s11682-020-00408-1DOI Listing
October 2020

Growth cone repulsion to Netrin-1 depends on lipid raft microdomains enriched in UNC5 receptors.

Cell Mol Life Sci 2020 Oct 23. Epub 2020 Oct 23.

Department of Cell Biology, Physiology and Immunology, Faculty of Biology and Institute of Neurosciences, University of Barcelona, 08028, Barcelona, Spain.

During brain development, Uncoordinated locomotion 5 (UNC5) receptors control axonal extension through their sensing of the guidance molecule Netrin-1. The correct positioning of receptors into cholesterol-enriched membrane raft microdomains is crucial for the efficient transduction of the recognized signals. However, whether such microdomains are required for the appropriate axonal guidance mediated by UNC5 receptors remains unknown. Read More

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http://dx.doi.org/10.1007/s00018-020-03663-zDOI Listing
October 2020

Analysis of human hippocampal volumetry in relation to pattern separation ability in healthy young subjects.

Brain Behav 2020 Oct 23:e01878. Epub 2020 Oct 23.

Department of Neurosurgery, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.

Introduction: Hippocampal dentate gyrus related to pattern separation has attracted attention as an area for neurogenesis. However, the associations between the pattern separation and the volumes of hippocampal subfields in humans remain unknown.

Methods: 58 young adults were examined the memory task (pattern separation, pattern completion) and the hippocampal volumes. Read More

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http://dx.doi.org/10.1002/brb3.1878DOI Listing
October 2020

Task-related brain activity and functional connectivity in upper limb dystonia: a functional magnetic resonance imaging (fMRI) and functional near-infrared spectroscopy (fNIRS) study.

Neurophotonics 2020 Oct 19;7(4):045004. Epub 2020 Oct 19.

Hospital Israelita Albert Einstein, Instituto de Ensino e Pesquisa, São Paulo, SP, Brazil.

Dystonia is a dynamic and complex disorder. Real-time analysis of brain activity during motor tasks may increase our knowledge on its pathophysiology. Functional near-infrared spectroscopy (fNIRS) is a noninvasive method that enables the measurement of cortical hemodynamic activity in unconstrained environments. Read More

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http://dx.doi.org/10.1117/1.NPh.7.4.045004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569470PMC
October 2020

Powassan Virus Neuropathology and Genomic Diversity in Patients With Fatal Encephalitis.

Open Forum Infect Dis 2020 Oct 29;7(10):ofaa392. Epub 2020 Aug 29.

Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

Background: Powassan virus (POWV) is an emerging cause of severe encephalitis; very little is known about human pathogenicity due to challenges in diagnosis and viral RNA recovery. We present 3 patients with fatal encephalitis due to POWV lineage II (deer tick virus).

Methods: We obtained 27 unique samples, including from brain biopsy and autopsy, and used metagenomic sequencing, quantitative reverse transcriptase polymerase chain reaction, and a newly developed CRISPR-based diagnostic assay to perform the first detailed characterization of POWV compartmentalization and genomics between and within human subjects. Read More

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http://dx.doi.org/10.1093/ofid/ofaa392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7566439PMC
October 2020

Isolated Central Nervous System Metastasis From Neuroendocrine Carcinoma of the Cervix Without Pulmonary Metastasis.

Cureus 2020 Sep 30;12(9):e10728. Epub 2020 Sep 30.

Department of Surgery, University of Texas Rio Grande Valley School of Medicine, Edinburg, USA.

Neuroendocrine carcinoma of the cervix (NECC) accounts for 2% of all cervical cancers. Brain metastasis is rare, with few cases described in the literature, and is usually associated with preceding pulmonary metastasis. We describe an additional case of isolated brain metastasis without pulmonary metastasis from NECC and reflect on unique management. Read More

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http://dx.doi.org/10.7759/cureus.10728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574972PMC
September 2020

Neonatal Cerebellar Hemorrhage and Facial Nerve Palsy: An Unusual Association.

AJP Rep 2020 Jul 2;10(3):e262-265. Epub 2020 Sep 2.

Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy.

Cerebellar hemorrhage is rare in term newborns and is most often seen after traumatic birth. Lifelong sequelae include motor and cognitive impairment. We report the uncommon case of a late preterm infant born by spontaneous delivery who showed right peripheral facial palsy at 24 hours of life. Read More

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http://dx.doi.org/10.1055/s-0040-1715162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571563PMC

Bibliometric analysis of the top 100 most cited articles on the basilar artery.

Surg Neurol Int 2020 25;11:307. Epub 2020 Sep 25.

Adult Neurosurgery Department, Neuroscience National Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

Background: The basilar artery (BA) is one of the most critical vessels that supply blood to the brain stem, cerebellum, and parts of the cerebral hemispheres. Many studies on the BA from neurobiological, clinical, and experimental perspectives exist. This bibliometric study was aimed at identifying the most-cited articles related to the BA in different disciplines. Read More

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http://dx.doi.org/10.25259/SNI_424_2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568095PMC
September 2020

Idiopathic fourth ventricular outlet obstruction misdiagnosed as normal pressure hydrocephalus: A cautionary case.

Surg Neurol Int 2020 25;11:305. Epub 2020 Sep 25.

Section of Neurosurgery, Carilion Clinic, Roanoke, Virginia, United States.

Background: Fourth ventricular outlet obstruction is an infrequent but well-established cause of tetraventricular hydrocephalus characterized by marked dilatation of the ventricular system with ballooning of the foramina of Monro, Magendie, and Luschka. Multiple processes including inflammation, infection, hemorrhage, neoplasms, or congenital malformations are known to cause this pathological obstruction. However, true idiopathic fourth ventricular outlet obstruction is a rare phenomenon with only a limited number of cases reported in the literature. Read More

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http://dx.doi.org/10.25259/SNI_408_2020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568106PMC
September 2020

Moyamoya disease concurrent with dural arteriovenous fistula: A case report and literature review.

Exp Ther Med 2020 Dec 9;20(6):161. Epub 2020 Oct 9.

Department of Neurosurgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.

Moyamoya disease (MMD) and dural arteriovenous fistula (DAVF) are two distinct types of intracranial lesion that share different pathogenic mechanisms. Under rare circumstances, patients with MMD have been reported to have concurrent DAVF. The present case study reports on a 47-year-old male admitted due to sudden headache. Read More

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http://dx.doi.org/10.3892/etm.2020.9290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7571339PMC
December 2020

Imaging Review of Paraneoplastic Neurologic Syndromes.

AJNR Am J Neuroradiol 2020 Oct 22. Epub 2020 Oct 22.

From the Division of Neuroradiology, Department of Radiology (A.A.M., C.M.C., P.P.M., A.L.K., C.H.H., L.J.E., E.P.L., F.E.D.).

Paraneoplastic syndromes are systemic reactions to neoplasms mediated by immunologic or hormonal mechanisms. The most well-recognized paraneoplastic neurologic syndrome, both clinically and on imaging, is limbic encephalitis. However, numerous additional clinically described syndromes affect the brain, spinal cord, and peripheral nerves. Read More

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http://dx.doi.org/10.3174/ajnr.A6815DOI Listing
October 2020