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Rainer U Pliquett, Arno Noll, Richard Ibe, Alexandra Katz, Charlotte Ackmann, Alexandra Schreiber, Matthias Girndt
BACKGROUND: Here, we report a case of central pontine demyelinization in a type-2 diabetes patient with hyperglycemia after a binge-eating attack in the absence of a relevant hyponatremia. CASE PRESENTATION: A 55-year-old, male type-2 diabetic patient with liver cirrhosis stage Child-Pugh B was admitted due to dysmetria of his right arm, gait disturbance, dizziness, vertigo, and polyuria, polydipsia after a binge-eating attack of sweets (a whole fruit cake and 2 Liters of soft drinks)...
March 12, 2018: BMC Endocrine Disorders
Felipe de Oliveira, José Alberto Landeiro, Igor de Castro
Background: Medulloblastoma is an embryonal neoplasm and accounts for 1% of all adult intracranial tumors. It is associated with many familiar cancer syndromes, but there is no known cause for medulloblastoma. Many studies have documented differences between childhood and adult medulloblastomas in terms of location, proliferation, and apoptotic indices. There are four histological groups - classic and the variant forms (desmoplastic/nodular, anaplasic, and large cell). There are four major subgroups according to molecular configuration: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4 with differences between them according to prognostic outcomes...
2018: Surgical Neurology International
Monir Mohar, Kosandra Hartman, Bronwyn Long, Peter Lee, Adrian Didita, Eric L Altschuler
We present a case of a patient with ataxia, dysmetria and hemiparesis following a stroke in the corona radiata. The patient had an excellent clinical course with near resolution of symptoms in two and a half weeks, and returned and back to work fully duty and full-time a couple of weeks later. We use a video of severeal neurological tests to demonstrate and characterize the dysmetria. Interestingly, a key characteristic of the dysmetria appears to be different from that seen in patients with dysmetria arising from a cerebellar, thalamic or pontine lesion...
February 6, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
Amandine Moroso, Aurélie Ruet, Delphine Lamargue-Hamel, Fanny Munsch, Mathilde Deloire, Jean-Christophe Ouallet, Stéphanie Cubizolle, Julie Charré-Morin, Aurore Saubusse, Thomas Tourdias, Vincent Dousset, Bruno Brochet
BACKGROUND: Cerebellar and cognitive dysfunction can occur early in clinically isolated syndrome (CIS). Eye tracking is a reliable tool for the evaluation of both subtle cerebellar symptoms and cognitive impairment. OBJECTIVES: To investigate the early cognitive profile using neuropsychological and ocular motor (OM) testing in CIS with and without cerebellar dysfunction with OM testing compared to healthy subjects (HS). METHODS: Twenty-eight patients and 12 HC underwent OM and neuropsychological testing...
February 15, 2018: Journal of the Neurological Sciences
Tridu R Huynh, Barbara Decker, Timothy J Fries, Ajay Tunguturi
PURPOSE: We report an unusual case of lateral medullary infarction presenting with orthostatic hypotension with pre-syncope without vertigo or Horner's syndrome. METHODS: Case report with review of the literature. RESULTS: A 67-year-old man presented with pre-syncope and ataxia without vertigo. Initial brain CT and MRI were normal. Neurological evaluation revealed right-beating nystagmus with left gaze, vertical binocular diplopia, right upper-extremity dysmetria, truncal ataxia with right axial lateropulsion, and right-facial and lower extremity hypoesthesia...
January 24, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
Hidefumi Suzuki, Kyoko Hosokawa, Michio Ono, Yasuhiro Kojima, Masutaro Kanda, Hiroshi Shibasaki
A 24-year-old woman slowly developed mild unsteadiness of gait. Neurological examination revealed mild dysmetria of the left upper and lower limbs. Standing and gait were unsteady, and tandem gait was impossible. Cranial magnetic resonance imaging (MRI) showed an enlarged left cerebellar hemisphere with striated lines, a characteristic finding of Lhermitte-Duclos disease. She also had papules on the forehead, goiter, lactating adenoma, glycogenic acanthosis in the esophagus, café-au-lait spot, and hemangioma and keratosis on the dorsum of foot...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
Giuseppe Annunziata, Pamela Lobo, Cristian Carbuccia
BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American woman with hypertension and a past history of morbid obesity and uncontrolled diabetes status post gastric bypass four years prior to the visit (with significantly improved body mass index and hemoglobin A1c controlled at the time of the clinical encounter) presented to the office complaining of gradual onset of unsteadiness and recurrent falls for the past three years, as well as difficulties coordinating routine daily activities...
November 27, 2017: American Journal of Case Reports
Yuji Nakamura, Ayako Hattori, Mitsuko Nakashima, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Naoki Ando, Naomichi Matsumoto, Shinji Saitoh
Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3. A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age...
October 21, 2017: Brain & Development
Lakshmi Leishangthem, Sudhakar Reddy Satti
71-year-old woman with progressive left-sided, monocular diplopia and ptosis. Her symptoms mimicked ocular myasthenia, but she had an indirect carotid cavernous fistula (CCF). She was diagnosed with monocular myasthenia gravis (negative acetylcholinesterase antibody) after a positive ice test and started on Mestinon and underwent a thymectomy complicated by a brachial plexus injury. Months later, she developed left-sided proptosis and ocular bruit. She was urgently referred to neuro-interventional surgery and was diagnosed with an indirect high-flow left CCF, which was treated with Onyx liquid and platinum coil embolisation...
October 19, 2017: BMJ Case Reports
Heidi I L Jacobs, David A Hopkins, Helen C Mayrhofer, Emiliano Bruner, Fred W van Leeuwen, Wijnand Raaijmakers, Jeremy D Schmahmann
The cerebellum has long been regarded as essential only for the coordination of voluntary motor activity and motor learning. Anatomical, clinical and neuroimaging studies have led to a paradigm shift in the understanding of the cerebellar role in nervous system function, demonstrating that the cerebellum appears integral also to the modulation of cognition and emotion. The search to understand the cerebellar contribution to cognitive processing has increased interest in exploring the role of the cerebellum in neurodegenerative and neuropsychiatric disorders...
July 28, 2017: Brain: a Journal of Neurology
Naoto Nagino, Hiraku Funakoshi, Takashi Shiga, Kuniyasu Saigusa
BACKGROUND: Spontaneous subclavian artery dissection is a rare etiology. Spontaneous artery dissection causing brain ischemia is rare in all ischemic strokes. However, in young to middle-aged patients with brain ischemia, spontaneous carotid or vertebral artery dissection causing ischemic stroke accounts for 10-25%. CASE REPORT: A 58-year-old man with a history of hypertension presented to the Emergency Department with a sudden onset of left-arm paresthesia and numbness followed by symptoms of vertigo and vomiting...
November 2017: Journal of Emergency Medicine
Gary Álvarez Bravo, Antonio Yusta Izquierdo, Guilherme Carvalho Monteiro, Irene Sánchez
OBJECTIVE: The aim of this case report is to highlight the importance of recognizing uncommon causes of cerebellar involvement. CASE PRESENTATION: A 45-year-old woman with no medical history who presented gait instability that appears suddenly and evolves rapidly in two weeks, causing frequent falls. Neurological examination revealed an inability to walk due to severe ataxia, accompanied by global hypotonia, appendicular dysmetria, opsoclonus and dysarthria. We studied this patient with cerebellar syndrome, obtaining as relevant findings global cerebellar atrophy in MRI (magnetic resonance imaging) and especially, considerably elevated levels of antibodies against thyroid peroxidase (TPO)...
November 15, 2017: Journal of Neuroimmunology
Mattia Vicario, Tito Calì, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J Lefeber, Enza Maria Valente, Enrico Bertini, Giuseppe Zanotti, Ginevra Zanni, Marisa Brini, Ernesto Carafoli
The neuron-restricted isoform 3 of the plasma membrane Ca(2+) ATPase plays a major role in the regulation of Ca(2+) homeostasis in the brain, where the precise control of Ca(2+) signaling is a necessity. Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. Interestingly, the presence of co-occurring mutations in additional genes suggest their synergistic action in generating the neurological phenotype as digenic modulators of the role of PMCA3 in the pathologies...
August 12, 2017: Biochimica et Biophysica Acta
Xavier Guell, John D E Gabrieli, Jeremy D Schmahmann
In this report, we analyze the relationship between embodied cognition and current theories of the cerebellum, particularly the Dysmetria of Thought theory and the concept of the Universal Cerebellar Transform (UCT). First, we describe the UCT and the Dysmetria of Thought theories, highlight evidence supporting these hypotheses and discuss their mechanisms, functions and relevance. We then propose the following relationships. (i) The UCT strengthens embodied cognition because it provides an example of embodiment where the nature and intensity of the dependence between cognitive, affective and sensorimotor processes are defined...
July 14, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
José O Oliveira, Soraya A Jorge Cecilio, Matheus Fernandes Oliveira, Leonardo R Takahashi, Alexandro R Galassi, Vanessa M Holanda, José M Rotta
Holmes' tremor (rubral tremor, cerebellar outflow tremor) is characterized by rest, intention and postural tremor, often localized to one upper extremity, associated with ipsilateral dysmetria and dysdiadochokinesia. We describe a case of successful treatment of Holmes' tremor with unilateral nucleus ventralis intermedius (VIM) thalamotomy. The subject is a 43-year-old woman with unremarkable previous medical history. She presented with complete left hemiparesis in the context of human immunodeficiency syndrome and the magnetic resonance image disclosed a contrast-enhancing lesion in right brain peduncle, in topography of red nucleus...
October 2017: Journal of Neurosurgical Sciences
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C Tchan, François Maillot
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM)...
September 2017: Molecular Genetics and Metabolism Reports
E Yucesan, Sibel A Ugur Iseri, B Bilgic, Z Gormez, B Bakir Gungor, A Sarac, O Ozdemir, M Sagiroglu, H Gurvit, H Hanagasi, U Ozbek
SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings...
December 2017: Neurological Sciences
Magdalena Wójcik-Pędziwiatr, Elżbieta Mirek, Monika Rudzińska-Bar, Andrzej Szczudlik
Apart from intention tremor essential tremor (ET) patients may display other cerebellar signs, like dysmetria or tandem gait disturbances as well as parkinsonian signs like resting tremor, cogwheel sign, subtle bradykinesia. Previous reports claimed the occurrence of the eye movement abnormalities characteristic for dysfunction of cerebellar dorsal vermis in ET patients with concomitant cerebellar signs. There are no previous reports evaluating the eye movement abnormalities in ET patients with concomitant parkinsonian signs...
July 2017: Neurologia i Neurochirurgia Polska
Yasmine El-Shamayleh, Yoshiko Kojima, Robijanto Soetedjo, Gregory D Horwitz
Purkinje cells of the primate cerebellum play critical but poorly understood roles in the execution of coordinated, accurate movements. Elucidating these roles has been hampered by a lack of techniques for manipulating spiking activity in these cells selectively-a problem common to most cell types in non-transgenic animals. To overcome this obstacle, we constructed AAV vectors carrying the channelrhodopsin-2 (ChR2) gene under the control of a 1 kb L7/Pcp2 promoter. We injected these vectors into the cerebellar cortex of rhesus macaques and tested vector efficacy in three ways...
July 5, 2017: Neuron
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
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