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Cerebellar syndrome

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https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#1
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716249/high-risk-of-early-conversion-to-multiple-sclerosis-in-clinically-isolated-syndromes-with-dissemination-in-space-at-baseline
#2
Lorenzo Gaetani, Fulvia Fanelli, Ilenia Riccucci, Paolo Eusebi, Paola Sarchielli, Carlo Pozzilli, Paolo Calabresi, Luca Prosperini, Massimiliano Di Filippo
INTRODUCTION: Multiple sclerosis (MS) usually presents at onset with a clinically isolated syndrome (CIS). According to 2010 McDonald criteria, a diagnosis of MS can be made if CIS patients satisfy clinical/MRI criteria of both dissemination in time (DIT) and space (DIS). OBJECTIVE: The aim of this study was to analyze the follow-up data and possible prognostic factors of CIS patients satisfying DIS MRI criteria. PATIENTS AND METHODS: We performed a retrospective, multicenter study across 2 Italian centers...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714395/five-decades-of-cuprizone-an-updated-model-to-replicate-demyelinating-diseases
#3
Jose M Vega-Riquer, Gerardo Mendez-Victoriano, Raul A Morales-Luckie, Oscar Gonzalez-Perez
Multiple sclerosis, Guillain-Barré syndrome, peripheral nerve polyneuropathy and others comprise a group of demyelinating diseases characterized by progressive (and eventually irreversible) loss of oligodendrocytes and myelin sheaths in the white matter of the brain. To date, the etiology of these disorders is not well known and no effective treatments are currently available. Therefore, further research is needed to gain a better understand and treat these patients. To accomplish this goal, it is necessary to have appropriate animal models that closely resemble the pathophysiology of these diseases...
July 17, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28713626/recurrent-hemorrhage-in-hemangioblastoma-involving-the-posterior-fossa-case-report
#4
Eric Marvin, Asad S Akhter, Jeroen R Coppens
BACKGROUND: Hemangioblastomas (HGBs) are the most common primary intra-axial posterior fossa tumor in adults. Although spontaneous hemorrhage of these tumors is exceedingly rare, despite their vascular nature, we describe a case of recurrent hemorrhage with associated tonsillar herniation, and demonstrate that a surgical approach can provide a suitable outcome. CASE DESCRIPTION: A 54-year-old female with von Hippel-Lindau (VHL) syndrome presented with acute loss of consciousness and Glasgow Coma Scale (GCS) was 4...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28711739/homozygous-c-359del-variant-in-mgme1-is-associated-with-early-onset-cerebellar-ataxia
#5
Malavika Hebbar, Katta M Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28707717/an-autopsied-case-of-corticobasal-degeneration-presenting-with-frontotemporal-dementia-followed-by-myoclonus
#6
Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Mari Yoshida
A Japanese woman developed frontotemporal dementia (FTD)-like symptoms of abnormal behavior, such as stereotyped behavior and disinhibition. The patient developed these symptoms at the age of 59 years, although aphasia symptoms were not apparent at early disease stages. Progressive parkinsonism was dominant on the left side, and conspicuous myoclonus was recognized in the late disease stage. MRI indicated severe, right side-dominant frontotemporal lobe atrophy with white matter degeneration. Brainstem and cerebellar atrophy were also observed...
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28706504/hypertrophic-olivary-degeneration-and-palatal-or-oculopalatal-tremor
#7
REVIEW
Caroline Tilikete, Virginie Desestret
Hypertrophic degeneration of the inferior olive is mainly observed in patients developing palatal tremor (PT) or oculopalatal tremor (OPT). This syndrome manifests as a synchronous tremor of the palate (PT) and/or eyes (OPT) that may also involve other muscles from the branchial arches. It is associated with hypertrophic inferior olivary degeneration that is characterized by enlarged and vacuolated neurons, increased number and size of astrocytes, severe fibrillary gliosis, and demyelination. It appears on MRI as an increased T2/FLAIR signal intensity and enlargement of the inferior olive...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28698159/identification-of-novel-and-hotspot-mutations-in-the-channel-domain-of-itpr1-in-two-patients-with-gillespie-syndrome
#8
M L Dentici, S Barresi, M Nardella, E Bellacchio, P Alfieri, A Bruselles, F Pantaleoni, A Danieli, G Iarossi, M Cappa, E Bertini, M Tartaglia, G Zanni
ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation of Ca2+ homeostasis. Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar atrophy. Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris hypoplasia. Dominant or recessive ITPR1 mutations have been recently associated with this form of syndromic ataxia...
July 8, 2017: Gene
https://www.readbyqxmd.com/read/28689294/cerebellar-disease-associated-with-anti-glutamic-acid-decarboxylase-antibodies-review
#9
REVIEW
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological syndromes have been recognized associated to GAD antibodies. Among those disorders, cerebellar ataxia (CA) is one of the most common, along with stiff-person syndrome. Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. These symptoms may be preceded by the so-called "brainstem attacks", where manifestations consistent with transient dysfunction of the brainstem may be observed...
July 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28689259/differential-diagnosis-of-parkinsonism-by-a-combined-use-of-diffusion-kurtosis-imaging-and-quantitative-susceptibility-mapping
#10
Kenji Ito, Chigumi Ohtsuka, Kunihiro Yoshioka, Hiroyuki Kameda, Suguru Yokosawa, Ryota Sato, Yasuo Terayama, Makoto Sasaki
PURPOSE: We investigated whether diffusion kurtosis imaging (DKI) and quantitative susceptibility mapping (QSM) could detect pathological changes that occur in Parkinson's disease (PD), multiple system atrophy with predominant parkinsonism (MSA-P) or predominant cerebellar ataxia (MSA-C), and progressive supranuclear palsy syndrome (PSPS) and thus be used for differential diagnosis that is often difficult. METHODS: Seventy patients (41 with PD, 6 with MSA-P, 7 with MSA-C, 16 with PSPS) and 20 healthy controls were examined using a 3...
July 8, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28677370/neuronal-vacuolation-and-spinocerebellar-degeneration-associated-with-altered-neurotransmission
#11
Aggeliki Giannakopoulou
<i>Inherited neurodegenerative disorders are debilitating diseases that occur across different species, such as the domestic dog (Canis lupus familiaris), and many are caused by mutations in the same genes as corresponding human conditions. In the present study, we report an inherited neurodegenerative condition, termed 'neuronal vacuolation and spinocerebellar degeneration' (NVSD) which affects neonatal or young dogs, mainly Rottweilers, which recently has been linked with the homozygosity for the RAB3GAP1:c...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28669454/neurophysiological-studies-on-atypical-parkinsonian-syndromes
#12
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
#13
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/28664031/large-scale-structural-alteration-of-brain-in-epileptic-children-with-scn1a-mutation
#14
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko
OBJECTIVE: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic children with SCN1A mutation compared to healthy control subjects...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28664015/central-hypoventilation-syndrome-complicated-with-lateral-medullary-infarction-after-endovascular-treatment-of-the-vertebral-artery-dissecting-aneurysm-a-case-report
#15
Katsuhiro Tanaka, Hideki Kanamaru, Atsunori Morikawa, Kenji Kawaguchi
Lateral medullary infarction rarely leads to central hypoventilation syndrome (CHS). CHS is a life-threatening disorder characterized by hypoventilation during sleep. We report the first case of CHS as a complication of lateral medullary infarction after endovascular treatment. A 65-year-old man presented twice with severe headache. Computed tomography revealed subarachnoid hemorrhage and cerebral angiography showed a right vertebral dissecting aneurysm involving the posterior inferior cerebellar artery. After emergent endovascular patent artery occlusion, he developed Wallenberg syndrome and experienced apnea and a conscious disturbance episode due to CHS on postoperative days 6 and 16...
October 2016: NMC Case Rep J
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#16
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
April 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28646959/is-chickenpox-so-bad-what-do-we-know-about-immunity-to-varicella-zoster-virus-and-what-does-it-tell-us-about-the-future
#17
Anne A Gershon
Varicella and zoster continue to cause significant morbidity and even mortality in children and adults. Complications include bacterial superinfection, central nervous system manifestations such as meningitis, encephalitis, and cerebellar ataxia, and pain syndromes especially post herpetic neuralgia. Many developed countries but not all, are now administering live attenuated varicella vaccine routinely, with a decrease in the incidence of disease, providing personal and herd immunity. There is some controversy, however, in some countries concerning whether a decrease in the circulation of wild type virus will result in loss of immunity to VZV in persons who have already had varicella...
June 2017: Journal of Infection
https://www.readbyqxmd.com/read/28645295/identification-of-the-flotillin-1-2-heterocomplex-as-a-target-of-autoantibodies-in-bona-fide-multiple-sclerosis
#18
S Hahn, G Trendelenburg, M Scharf, Y Denno, S Brakopp, B Teegen, C Probst, K P Wandinger, M Buttmann, A Haarmann, F Szabados, M Vom Dahl, T Kümpfel, P Eichhorn, H Gold, F Paul, S Jarius, N Melzer, W Stöcker, L Komorowski
BACKGROUND: Autoantibodies, in particular those against aquaporin-4 and myelin-oligodendrocyte glycoprotein (MOG), aid as biomarkers in the differential diagnosis of demyelination. Here, we report on discovery of autoantibodies against flotillin in patients with multiple sclerosis (MS). METHODS: The target antigen was identified by histo-immunoprecipitation using the patients' sera and cryosections of rat or pig cerebellum combined with mass spectrometrical analysis...
June 23, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#19
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
https://www.readbyqxmd.com/read/28638259/global-alert-zika-virus-an-emerging-arbovirus
#20
REVIEW
Zulal Ozkurt, Esra Cinar Tanriverdi
Zika virus (ZIKV) is an arbovirus of the Flavivirus genus, and it has an envelope and a single RNA molecule. In early 2016, the World Health Organization declared ZIKV infection to be an emerging global health threat. The major transmission route of the virus to humans is Aedes mosquitoes. ZIKV can be transmitted between humans by transplacental, perinatal, and sexual routes and via blood and body fluids. ZIKV infection usually results in a mild and self-limiting disease with low-grade fever, conjunctivitis, and periorbital edema...
June 2017: Eurasian Journal of Medicine
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