keyword
MENU ▼
Read by QxMD icon Read
search

cerebellar signs

keyword
https://www.readbyqxmd.com/read/28701995/cerebellar-dysfunction-in-multiple-sclerosis
#1
REVIEW
Alastair Wilkins
Multiple sclerosis (MS) commonly affects the cerebellum causing acute and chronic symptoms. Cerebellar signs contribute significantly to clinical disability, and symptoms such as tremor, ataxia, and dysarthria are particularly difficult to treat. Increasing knowledge concerning the pathophysiology of cerebellar disease in MS from human postmortem studies, experimental models, and clinical trials has raised the hope that cerebellar symptoms will be better treated in the future.
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28687453/cerebellar-stroke-presenting-with-isolated-dizziness-brain-mri-in-136-patients
#2
Michael D Perloff, Nimesh S Patel, Carlos S Kase, Anuja U Oza, Barbara Voetsch, Jose R Romero
OBJECTIVE: To evaluate occurrence of cerebellar stroke in Emergency Department (ED) presentations of isolated dizziness (dizziness with a normal exam and negative neurological review of systems). METHODS: A 5-year retrospective study of ED patients presenting with a chief complaint of "dizziness or vertigo", without other symptoms or signs in narrative history or on exam to suggest a central nervous system lesion, and work-up included a brain MRI within 48h. Patients with symptoms commonly peripheral in etiology (nystagmus, tinnitus, gait instability, etc...
June 22, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28680780/immediate-remote-cerebellar-hemorrhage-and-seizure-following-revision-lumbosacral-fusion
#3
Alvin Y Chan, Jeffrey P Mullin, Edward Benzel, William Bingaman
Cerebellar hemorrhage (CH) is a rare but devastating complication following spine surgery. It is associated with a compromise to dura integrity and typically has a delayed post-operative onset. Here, we describe a patient who suffered a CH that presented with a generalized tonic-clonic (GTC) seizure immediately after a revision lumbar fusion. The patient did not regain consciousness from anesthesia prior to the hemorrhage. There are no reports indicating that CHs can occur abruptly following a spine surgery...
May 30, 2017: Curēus
https://www.readbyqxmd.com/read/28673510/eye-movements-in-essential-tremor-patients-with-parkinsonian-and-cerebellar-signs
#4
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...
May 17, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28669454/neurophysiological-studies-on-atypical-parkinsonian-syndromes
#5
REVIEW
Matteo Bologna, Antonio Suppa, Flavio Di Stasio, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli
There have been a relatively large number of experimental investigations using neurophysiological techniques in patients with atypical parkinsonian syndromes (APs), including progressive supranuclear palsy, cortico-basal syndrome and multiple system atrophy. Earlier studies focused on the startle, blink and trigemino-cervical reflexes and showed several brainstem abnormalities. Studies using transcranial magnetic stimulation have revealed a number of abnormalities in primary motor cortex and inter-hemispheric connectivity...
June 27, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28668775/towards-an-early-clinical-diagnosis-of-sporadic-cjd-vv2-ataxic-type
#6
Simone Baiardi, Anna Magherini, Sabina Capellari, Veronica Redaelli, Anna Ladogana, Marcello Rossi, Fabrizio Tagliavini, Maurizio Pocchiari, Giorgio Giaccone, Piero Parchi
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease (sCJD) includes a broad spectrum of clinical-pathological subtypes, which complicates the clinical differential diagnosis with other rapidly progressive neurological syndromes. AIM: To provide a better characterisation of clinical features and results of diagnostic investigations, especially at an early disease stage, in patients with sCJDVV2, the second most common sCJD subtype. METHODS: We evaluated neurological symptoms/signs, and results of brain diffusion-weighted resonance imaging (DW-MRI), electroencephalographic recordings (EEG) and cerebrospinal fluid (CSF) biomarker studies in 120 patients with a definite (n=93) or probable (n=27) diagnosis of sCJDVV2...
July 1, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28658676/a-novel-homozygous-sacs-mutation-identified-by-whole-exome-sequencing-in-a-consanguineous-family-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#7
Hui Zeng, Jian-Guang Tang, Yi-Feng Yang, Zhi-Ping Tan, Jie-Qiong Tan
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_014363: c.9495_9508del; p...
June 29, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28648566/disrupted-implicit-motor-sequence-learning-in-schizophrenia-and-bipolar-disorder-revealed-with-ambidextrous-serial-reaction-time-task
#8
Adrian Andrzej Chrobak, Katarzyna Siuda-Krzywicka, Grzegorz Przemysław Siwek, Anna Tereszko, Weronika Janeczko, Anna Starowicz-Filip, Marcin Siwek, Dominika Dudek
BACKGROUND: Impairment of implicit motor sequence learning was shown in schizophrenia (SZ) and, most recently, in bipolar disorder (BD), and was connected to cerebellar abnormalities. The goal of this study was to compare implicit motor sequence learning in BD and SZ. METHODS: We examined 33 patients with BD, 33 patients with SZ and 31 healthy controls with a use of ambidextrous Serial Reaction Time Task (SRTT), which allows exploring asymmetries in performance depending on the hand used...
June 23, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28644064/frequent-vomiting-attacks-in-a-patient-with-lhermitte-duclos-disease-a-rare-pathophysiology-of-cerebellar-lesions
#9
Chika Somagawa, Tomonori Ono, Ryoko Honda, Hiroshi Baba, Takeshi Hiu, Ryujiro Ushijima, Keisuke Toda, Kei Sato, Masahiro Ito, Keisuke Tsutsumi
Lhermitte-Duclos disease (LDD) is a neurological disease caused by a hamartomatous lesion in the cerebellum. Clinically, LDD is commonly associated with progressive space-occupying lesion effects in the posterior fossa, increasing intracranial pressure, occlusive hydrocephalus, and focal neurological deficits of adjacent structures. The authors report the case of a 10-year-old boy with LDD who had been suffering from vomiting attacks (VAs). These VAs had been brief in duration but extremely frequent, and they had been resistant to antiemetic drugs since the early postnatal period...
June 23, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#10
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#11
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28623566/clinical-and-molecular-genetic-features-of-cerebrotendinous-xanthomatosis-patients-in-chinese-families
#12
Chen Chen, Yue Zhang, Hui Wu, Yi-Min Sun, Ye-Hua Cai, Jian-Jun Wu, Jian Wang, Ling-Yun Gong, Zheng-Tong Ding
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The features of Chinese CTX patients reported previously were also reviewed. Three novel mutations of p.Arg513Cys, c...
June 17, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28622494/laryngeal-neuropathy-in-adult-goats-with-copper-deficiency
#13
R F A Sousa, V M Almeida, J E Neto, C W A Nascimento, G X Medeiros, R M T Medeiros, F Riet-Correa, F S Mendonça
The aim of this study was to elucidate the cause of a neurological syndrome characterized by stridor in adult goats with clinical signs of copper deficiency. The main clinical signs consisted of apathy, emaciation, pale mucous membranes, mucous nasal discharge, dyspnea, severe achromotrichia, diffuse alopecia, torpor, ataxia, and stridor. When the goats were forced to move, the stridor increased. In a herd of 194 Toggenburg goats, 10 adult goats with clinical signs of copper deficiency were removed from the herd and divided into 2 groups: group 1, which consisted of 4 nannies and 1 buck with stridor, and group 2, which consisted of 4 nannies and 1 buck without stridor...
July 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28619489/predictors-of-outcomes-in-fourth-ventricular-epidermoid-cysts-a-case-report-and-a-review-of-literature
#14
REVIEW
Lawrance K Chung, Joel S Beckett, Vera Ong, Carlito Lagman, Daniel T Nagasawa, Isaac Yang, Won Kim
OBJECTIVE: To present an illustrative case of fourth ventricular epidermoid cyst and review the literature to identify predictors of surgical outcomes. METHODS: A case of fourth ventricular epidermoid cyst is presented and a systematic review of five popular databases was performed by independent authors. Stepwise logistic regression was performed to identify clinical predictors of outcomes. RESULTS: A 21-year-old female presented with 3 months of headaches and visual obscurations and was diagnosed with a multi-lobulated mass in the fourth ventricle...
June 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28617386/-l-2-hydroxyglutaric-aciduria-caused-by-a-new-mutation-in-the-l2hgdh-gene
#15
E V Saifullina, E Yu Zakharova, M V Kurkina, R V Magzhanov, E V Gaisina, E N Zakirova
The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment). The distinctive feature is the specific multifocal lesion of the white matter detected on MRI. The characteristic neuroimaging picture and positive results of biochemical and molecular genetic diagnosis were identified...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28606112/acute-cerebellitis-in-children-an-eleven-year-retrospective-multicentric-study-in-italy
#16
Laura Lancella, Susanna Esposito, Maria Luisa Galli, Elena Bozzola, Valeria Labalestra, Elena Boccuzzi, Andrzej Krzysztofiak, Laura Cursi, Guido Castelli Gattinara, Nadia Mirante, Danilo Buonsenso, Claudia Tagliabue, Luca Castellazzi, Carlotta Montagnani, Chiara Tersigni, Piero Valentini, Michele Capozza, Davide Pata, Maria Di Gangi, Piera Dones, Silvia Garazzino, Luca Baroero, Alberto Verrotti, Maria Luisa Melzi, Michele Sacco, Michele Germano, Filippo Greco, Elena Uga, Giovanni Crichiutti, Alberto Villani
BACKGROUND: Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of children with AC/ACA: the aim of the study is both to assess clinical, neuroimaging and electrophysiologic features of children with AC/ACA and to evaluate the correlation between clinical parameters, therapy and outcome. METHODS: A multicentric retrospective study was conducted on children ≤ 18 years old admitted to 12 Italian paediatric hospitals for AC/ACA from 01/01/2003 to 31/12/2013...
June 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28593553/prenatal-diagnosis-of-spina-bifida-from-intracranial-translucency-to-intrauterine-surgery
#17
Waldo Sepulveda, Amy E Wong, Francisco Sepulveda, Juan L Alcalde, Juan C Devoto, Felipe Otayza
Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign)...
June 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28592078/-treatment-of-single-one-stage-posterior-atlantoaxial-fixation-in-chiari-malformation
#18
L N Lu, R Zong, X B Xu, X G Yu, G Y Qiao
Objective: To explore the effects of surgical technique of single one-stage posterior C(1-2) screw rod fixation of Chiari malformation (CM) associated with occipitalization and without atlantoaxial dislocation. Methods: A total of 23 patients with CM treated between January 2014 and October 2015 in Department of Neurosurgery of Chinese People's Liberation Army General Hospital were retrospective reviewed. All of them were diagnosis with CM associated with occipitalization and without atlantoaxial dislocation, including 8 males and 15 females, aging from 11 to 57 years (mean (35...
June 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28588577/immune-reconstitution-inflammatory-syndrome-unmasking-or-worsening-aids-related-progressive-multifocal-leukoencephalopathy-a-literature-review
#19
REVIEW
Anna Fournier, Guillaume Martin-Blondel, Emmanuèle Lechapt-Zalcman, Julia Dina, Apolline Kazemi, Renaud Verdon, Emmanuel Mortier, Arnaud de La Blanchardière
Incidence of progressive multifocal leukoencephalopathy (PML) in HIV-infected patients has declined in the combined antiretroviral therapy (cART) era although a growing number of acquired immunodeficiency syndrome (AIDS)-related PML-immune reconstitution inflammatory syndromes (PML-IRIS) have been published during the same period. Therapeutic management of PML-IRIS is not consensual and mainly relies on corticosteroids. Our main aim was, in addition to provide a thoughtful analysis of published PML-IRIS cases, to assess the benefit of corticosteroids in the management of PML-IRIS, focusing on confirmed cases...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28587997/long-term-follow-up-of-two-siblings-with-adult-onset-neuronal-ceroid-lipofuscinosis-kufs-type-a
#20
Çiğdem Özkara, Ayşegül Gündüz, Tülin Coşkun, Bengi Gül Alpaslan, Burcu Zeydan, Şakir Delil, Mikko Muona, Anna-Elina Lehesjoki, Meral E Kızıltan
Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. We retrospectively analysed medical records and electrophysiological data in order to delineate evolution of clinical and electrophysiological findings. Electrophysiological studies included routine EEG and video-EEG, as well as polymyographic analysis of myoclonus and brainstem reflex studies...
June 6, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
keyword
keyword
32730
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"