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cerebellar signs

Christian Wächter, Lee E Eiden, Nedye Naumann, Candan Depboylu, Eberhard Weihe
BACKGROUND: The majority of investigations on HIV-associated neurocognitive disorders (HAND) neglect the cerebellum in spite of emerging evidence for its role in higher cognitive functions and dysfunctions in common neurodegenerative diseases. METHODS: We systematically investigated the molecular and cellular responses of the cerebellum as contributors to lentiviral infection-induced neurodegeneration, in the simian immunodeficiency virus (SIV)-infected rhesus macaque model for HIV infection and HAND...
October 14, 2016: Journal of Neuroinflammation
Taylor J Yaw, Nick D Jeffery, Brandon Cain, Amanda Fales-Williams, Bianca A Zaffarano
A juvenile, male crested pekin duck ( Anas platyrhynchos f dom) was presented for neurologic signs suggestive of cerebellar disease. Physical examination revealed microphthalmia, erratic head movements, and ataxia. Computed tomography scan of the head and neck regions revealed 2 full-thickness skull-bone defects within the caudal portion of the cranium. The cerebellum appeared to be ventrally compressed by a homogeneous, triangular, fluid-attenuating region (0-10 Hounsfield units). A craniectomy was performed, and a presumed peripheral cerebral cyst was removed with suction and gentle dissection...
September 2016: Journal of Avian Medicine and Surgery
Julián Benito-León, Ángela Domingo-Santos
BACKGROUND: Orthostatic tremor (OT) remains among the most intriguing and poorly understood of movement disorders. Compared to Parkinson's disease or even essential tremor, there are very few articles addressing more basic science issues. In this review, we will discuss the findings of main case series on OT, including data on etiology, pathophysiology, diagnostic approach, treatment strategies, and outcome. METHODS: Data for this review were identified by searching PUBMED (January 1966 to August 2016) for the terms "orthostatic tremor" or "shaky leg syndrome," which yielded 219 entries...
2016: Tremor and Other Hyperkinetic Movements
E Y Scott, M C T Penedo, J D Murray, C J Finno
Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype...
October 5, 2016: Cerebellum
Héla Fourati, Emna Ellouze, Mourad Ahmadi, Dhouha Chaari, Fatma Kamoun, Ines Hsairi, Chahnez Triki, Zeineb Mnif
l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal symptoms, and seizures Goffette et al. [1]. This leukencephalopathy was first described in 1980 Duran et al. [2]. Brain magnetic resonance imaging (MRI) demonstrates nonspecific subcortical white matter (WM) loss, cerebellar atrophy and changes in dentate nuclei and putamen Steenweg et al...
2016: European Journal of Radiology Open
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
Bruno L Anjos, Paulo V Peixoto, Saulo A Caldas, Daniel Bhaltazar, Ticiana N França, Aníbal G Armién
Plant intoxications in wildlife are difficult to diagnose, are overlooked, or are sometimes even neglected. Hence, factors that induce wild animals to ingest poisonous plants have not been sufficiently documented. An outbreak of glycoprotein storage disease in sambar deer ( Cervus unicolor ), induced by ingestion of the swainsonine-containing plant, common wireweed (Sida carpinifolia), is reported. Nine out of 55 deer held by a zoo in Brazil were affected. The poisoning was characterized by emaciation and neurologic signs followed by unexpected death in some of the animals...
September 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Karl Frontzek, Manuela Pfammatter, Silvia Sorce, Assunta Senatore, Petra Schwarz, Rita Moos, Katrin Frauenknecht, Simone Hornemann, Adriano Aguzzi
Prions are the infectious agents causing transmissible spongiform encephalopathies (TSE), progressive, inexorably lethal neurological diseases. Antibodies targeting the globular domain (GD) of the cellular prion protein PrPC trigger a neurotoxic syndrome morphologically and molecularly similar to prion disease. This phenomenon raises the question whether such antibodies induce infectious prions de novo. Here we exposed cerebellar organotypic cultured slices (COCS) to the neurotoxic antibody, POM1. We then inoculated COCS homogenates into tga20 mice, which overexpress PrPC and are commonly utilized as sensitive indicators of prion infectivity...
2016: PloS One
Marieke Chamberon, Corinne Catale, Bernadette Kerrouche, Hanna Touré, Anne Laurent-Vannier, Dominique Brugel, Emmanuelle Pineau-Chardon, Aude Mariller, Ouarda Benkhaled, Virginie Kieffer, Miriam Beauchamp, Mathilde Chevignard
OBJECTIVE: Childhood acquired brain injury (ABI) is the leading cause of acquired disability in childhood, with significant consequences on independence, academic achievement and participation. The "Child and Adolescent Scale of Participation" (CASP; Bedell 2004) has been specifically developed to assess participation following childhood ABI. The aim of this study was to examine the psychometric properties of the French version of the Child and Adolescent Scale of Participation. MATERIAL/PATIENTS AND METHODS: Cross-sectional, monocentric study...
September 2016: Annals of Physical and Rehabilitation Medicine
Elena Laakmann, Isabell Witzel, Verena Scriba, Ulrich Grzyska, Christine Zu Eulenburg, Nicole Burchardi, Tobias Hesse, Florian Würschmidt, Tanja Fehm, Volker Möbus, Gunter von Minckwitz, Sibylle Loibl, Tjoung-Won Park-Simon, Volkmar Mueller
Evidence about distribution patterns of brain metastases with regard to breast cancer subtypes and its influence on the prognosis of patients is insufficient. Clinical data, cranial computed tomography (CT) and magnetic resonance imaging (MRI) scans of 300 breast cancer patients with brain metastases (BMs) were collected retrospectively in four centers participating in the Brain Metastases in Breast Cancer Registry (BMBC) in Germany. Patients with positive estrogen (ER), progesterone (PR), or human epidermal growth factor receptor 2 (HER2) statuses, had a significantly lower number of BMs at diagnosis...
2016: International Journal of Molecular Sciences
Andrea L Cheville, Jeffrey R Basford, Ian Parney, Ping Yang, Felix E Diehn
OBJECTIVES: To test whether the presence of patient- and imaging-level characteristics: 1) are associated with clinically meaningful changes in mobility among late stage cancer patients with metastatic brain involvement; and 2) can predict their risk of near-term functional decline. DESIGN: Prospective nested cohort study SETTING: Quaternary academic medical center PARTICIPANTS: The study population consisted of a nested cohort of the 66 patients with imaging confirmed brain metastases among a larger cohort of 311 patients with late stage lung cancer...
September 22, 2016: Archives of Physical Medicine and Rehabilitation
Aislinn J Williams, Zhenni Wang, Stephan F Taylor
New-onset psychotic symptoms often respond well to antipsychotic treatment; however, symptoms may be difficult to treat when an underlying brain malformation is present. Here, we present a case of atypical psychotic symptoms in the context of a congenital cerebellar malformation (Dandy-Walker variant). The patient ultimately improved with paliperidone palmitate after multiple antipsychotic medication trials (both oral and one long-acting injectable) were ineffective. Neuroimaging may provide valuable diagnostic and prognostic information in cases of new-onset psychosis with atypical features and treatment resistance, even in the absence of neurologic signs and symptoms...
September 23, 2016: Neurocase
Martin M Reich, Joachim Brumberg, Nicolò G Pozzi, Giorgio Marotta, Jonas Roothans, Mattias Åström, Thomas Musacchio, Leonardo Lopiano, Michele Lanotte, Ralph Lehrke, Andreas K Buck, Jens Volkmann, Ioannis U Isaias
Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity...
September 21, 2016: Brain: a Journal of Neurology
Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A Mayr, Ivo Baric, Felix Distelmaier, Holger Prokisch
To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions...
October 6, 2016: American Journal of Human Genetics
Hye Yeon Lee, Min Jeong Kim, Bo-Ram Kim, Seong-Eun Koh, In-Sik Lee, Jongmin Lee
Bilateral paramedian thalamic infarction is a rare subtype of stroke caused by occlusion of the artery of Percheron, an uncommon variant originating from one of the posterior cerebral arteries. This type of stroke has several major clinical presentations: altered mental status, behavioral amnestic impairment, aphasia or dysarthria, ocular movement disorders, motor deficits, cerebellar signs, and others. Few cases of bilateral paramedian thalamic infarction-related pseudobulbar palsy characterized by dysarthria, dysphagia, and facial and tongue weakness have been reported...
August 2016: Annals of Rehabilitation Medicine
Zeynep Özözen Ayas, Dilcan Kotan, Yeşim Güzey Aras
INTRODUCTION: Autoimmune neurological syndrome is a group of disorders caused by cancer affecting nervous system by different immunological mechanisms. In this study, we aim to study the clinical symptoms, cerebrospinal fluid (CSF) findings, autoantibody tests, computed tomography (CT), magnetic resonance imaging (MRI) signs and treatment outcome of patients with autoimmune syndromes. METHODS: In this study, 7 patients (4 male, 3 female) diagnosed with autoimmune neurological syndrome were retrospectively examined...
October 6, 2016: Neuroscience Letters
Elzbieta Szmidt-Salkowska, Malgorzata Gawel, Zygmunt Jamrozik, Joanna Salkowska-Wanat, Damian Gawel, Anna Kaminska
UNLABELLED: Abnormal blink reflex (BR) is a result of reticular brainstem pathways dysfunction and seems to be one of the features of brain degenerative disorders. The aim of the study was to estimate the diagnostic value of blink reflex in neurodegenerative diseases such as: multisystem atrophy (MSA), progressive supranuclear palsy (PSP) and Parkinson disease (PD). Material consisted of 99 patients with clinically probable MSA (51), PSP (28) and PD (20). MSA patients were divided into two subgroups, with dominant cerebellar (MSA-C) and parkinsonian signs (MSA-P)...
2016: Neurologia i Neurochirurgia Polska
Liang Niu, Yinian Zhang, Qiao Li, Junqiang Dai, Hang Yin, Lei Duan, Hu Yang, Wentao Liang, Zhenwei Qin, Jianping Zhang, Yawen Pan
OBJECTIVE: Analyze the factors affecting postoperative outcomes in patients with solid cerebellar hemangioblastomas. PATIENTS AND METHODS: We retrospectively analyzed the clinical data of 22 patients with sporadic solid cerebellar hemangioblastomas. Data regarding the clinical materials and imaging features, diameter of the lesion, operative approaches and postoperative complications were analyzed in all patients. The factors that may affect the recovery of postoperative patients were analyzed by univariate analysis and logistic regression multivariate analysis...
November 2016: Clinical Neurology and Neurosurgery
Paola Caporali, Francesco Bruno, Giampiero Palladino, Jessica Dragotto, Laura Petrosini, Franco Mangia, Robert P Erickson, Sonia Canterini, Maria Teresa Fiorenza
Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disorder caused by defective intracellular trafficking of exogenous cholesterol. Purkinje cell (PC) degeneration is the main sign of cerebellar dysfunction in both NPC1 patients and animal models. It has been recently shown that a significant decrease in Sonic hedgehog (Shh) expression reduces the proliferative potential of granule neuron precursors in the developing cerebellum of Npc1 (-/-) mice. Pursuing the hypothesis that this developmental defect translates into functional impairments, we have assayed Npc1-deficient pups belonging to the milder mutant mouse strain Npc1 (nmf164) for sensorimotor development from postnatal day (PN) 3 to PN21...
2016: Acta Neuropathologica Communications
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