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Cerebellar syndrome

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https://www.readbyqxmd.com/read/28431631/neuroimaging-findings-in-joubert-syndrome-with-c5orf42-gene-mutations-a-milder-form-of-molar-tooth-sign-and-vermian-hypoplasia
#1
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28418820/case-241-hemiparkinsonism-hemiatrophy-spect-with-99m-tc-trodat-1-and-muscle-mr-imaging-abnormalities
#2
Thiago Cardoso Vale, Flávia Cristina de Lima Pinto, José Luiz Pedroso, Marília Alves Dos Reis, Ilza Rosa Batista, Rodrigo Affonseca Bressan, René Leandro Magalhães Rivero, Renato Adam Mendonça, Orlando G Barsottini
History A 43-year-old right-handed man presented with a history of progressive mild left-sided weakness and slowness of movements. Symptoms began 4 years earlier, and the patient noticed a progressive decline in his daily routine due to gait difficulties in the past year. There was no history of head trauma, surgery, drug therapy, smoking, or alcohol abuse, nor was there any relevant family history. Examination revealed normal cognition (29 of 30 points on the Mini-Mental State Examination and 27 of 30 points on the Montreal Cognitive Assessment) and normal cerebellar, sensory, cranial nerve, and autonomic function...
May 2017: Radiology
https://www.readbyqxmd.com/read/28416787/a-family-with-hereditary-cerebellar-ataxia-finally-confirmed-as-gerstmann-straussler-scheinker-syndrome-with-p102l-mutation-in-prnp-gene
#3
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28410279/ocular-motor-manifestations-of-multiple-sclerosis
#4
Elodie Nerrant, Caroline Tilikete
BACKGROUND: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system leading to disability, especially in young patients. Acute or chronic lesions of MS within the brainstem and the cerebellum frequently result in ocular motor disorders. EVIDENCE ACQUISITION: This review encompasses the spectrum of ocular motor disorders in patients with MS emphasizing prevalence, examination findings, diagnostic features, functional consequences, classification of MS course, and management of these disturbances of ocular motility...
April 13, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28407743/new-drugs-new-toxicities-severe-side-effects-of-modern-targeted-and-immunotherapy-of-cancer-and-their-management
#5
REVIEW
Frank Kroschinsky, Friedrich Stölzel, Simone von Bonin, Gernot Beutel, Matthias Kochanek, Michael Kiehl, Peter Schellongowski
Pharmacological and cellular treatment of cancer is changing dramatically with benefits for patient outcome and comfort, but also with new toxicity profiles. The majority of adverse events can be classified as mild or moderate, but severe and life-threatening complications requiring ICU admission also occur. This review will focus on pathophysiology, symptoms, and management of these events based on the available literature.While standard antineoplastic therapy is associated with immunosuppression and infections, some of the recent approaches induce overwhelming inflammation and autoimmunity...
April 14, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/28400822/pacemaker-placement-in-patients-with-stroke-mediated-autonomic-dysregulation
#6
Ali A Alsaad, Christopher O Austin, Maisha T Robinson, Michael B Phillips
Lateral medullary syndrome (LMS) is an ischemic disease of the medulla oblongata, which involves the territory of the posterior inferior cerebellar artery. Lateral medullary syndrome is often missed as the cause of autonomic dysregulation in patients with recent brain stem stroke. Due to the location of the baroreceptor regulatory center in the lateral medulla oblongata, patients with LMS occasionally have autonomic dysregulation-associated clinical manifestations. We report a case of LMS-associated autonomic dysregulation...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28395678/systemic-lupus-erythematosus-a-possible-cause-of-non-alcoholic-wernicke-s-encephalopathy
#7
M T L Nyo, D Magazi, M M T M Ally
We report a young woman with systemic lupus erythematosus (SLE) and an acute cerebellar ataxia. A history of poor appetite and vomiting preceded the inco-ordination. Ataxia in SLE has been well described, but is nevertheless uncommon. The clinical triad of mild confusion, ataxia and ophthalmoplegia also raised the possibility of Wernicke's encephalopathy (WE). The diagnosis of WE was further supported by the magnetic resonance imaging features. Owing to overlapping causal factors, this case illustrates the complexity of diagnosing and managing neuropsychiatric syndromes in a patient with SLE...
March 29, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28393013/neural-substrates-of-motor-and-cognitive-dysfunctions-in-sca2-patients-a-network-based-statistics-analysis
#8
G Olivito, M Cercignani, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs. It has been shown that patients affected by SCA2 present also cognitive impairments and psychiatric symptoms. The cerebellum is known to modulate cortical activity and to contribute to distinct functional networks related to higher-level functions beyond motor control. It is therefore conceivable that one or more networks, rather than isolated regions, may be dysfunctional in cerebellar degenerative diseases and that an abnormal connectivity within specific cerebello-cortical regions might explain the widespread deficits typically observed in patients...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#9
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
March 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28390064/pgap3-related-hyperphosphatasia-with-mental-retardation-syndrome-report-of-10-new-patients-and-a-homozygous-founder-mutation
#10
M S Abdel-Hamid, M Y Issa, G A Otaify, S F Abdel-Ghafar, H M Elbendary, M S Zaki
Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. Herein, we describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Eight patients had cleft palate, four had postnatal microcephaly and five had seizures. Neuroimaging findings showed thin corpus callosum in 9 patients, mild ventriculomegaly in 3 patients and variable degrees of cerebellar vermis hypoplasia in 4 patients, a finding not previously reported in patients with HPMRS...
April 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28388629/a-tubulin-alpha-8-mouse-knockout-model-indicates-a-likely-role-in-spermatogenesis-but-not-in-brain-development
#11
Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Tubulin alpha 8 (Tuba8) is the most divergent member of the highly conserved alpha tubulin family, and uniquely lacks two key post-translational modification sites. It is abundantly expressed in testis and muscle, with lower levels in the brain. We previously identified homozygous hypomorphic TUBA8 mutations in human subjects with a polymicrogyria (PMG) syndrome, suggesting its involvement in development of the cerebral cortex. We have now generated and characterized a Tuba8 knockout mouse model. Homozygous mice were confirmed to lack Tuba8 protein in the testis, but did not display PMG and appeared to be neurologically normal...
2017: PloS One
https://www.readbyqxmd.com/read/28386688/beyond-the-midbrain-atrophy-wide-spectrum-of-structural-mri-finding-in-cases-of-pathologically-proven-progressive-supranuclear-palsy
#12
REVIEW
Keita Sakurai, Aya M Tokumaru, Keigo Shimoji, Shigeo Murayama, Kazutomi Kanemaru, Satoru Morimoto, Ikuko Aiba, Motoo Nakagawa, Yoshiyuki Ozawa, Masashi Shimohira, Noriyuki Matsukawa, Yoshio Hashizume, Yuta Shibamoto
PURPOSE: Recently, it has been recognized that pathologically proven progressive supranuclear palsy (PSP) cases are classified into various clinical subtypes with non-uniform symptoms and imaging findings. This article reviews essential imaging findings, general information, and advanced magnetic resonance imaging (MRI) techniques for PSP and presents these MRI findings of pathologically proven typical and atypical PSP cases for educational purposes. METHODS: With the review of literatures, notably including atypical pathologically proven PSP cases, MRI and clinical information of 15 pathologically proven typical and atypical PSP cases were retrospectively evaluated...
April 6, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28386581/paraneoplastic-cerebellar-degeneration-in-a-patient-with-a-primary-fallopian-tube-adenocarcinoma-a-case-report-and-brief-review
#13
Mario Campero, Alberto E Selman
We describe a 65-year-old woman with subacute cerebellar syndrome expressed as severe ataxia, and the presence of anti Purkinje cell antibodies (Anti-Yo). A small adnexal mass was only evident on PET CT with the pathological feature of fallopian tube adenocarcinoma. Anti-Yo antibodies have been strongly associated with paraneoplastic cerebellar degeneration, and nearly always associated to ovarian adenocarcinomas. Few cases have been reported in which this paraneoplastic syndrome has been related to fallopian tube adenocarcinoma...
May 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28382329/familial-childhood-onset-progressive-cerebellar-syndrome-associated-with-the-atp1a3-mutation
#14
Fatima Jaffer, Katherine Fawcett, David Sims, Andreas Heger, Henry Houlden, Michael G Hanna, Helen Kingston, Sanjay M Sisodiya
No abstract text is available yet for this article.
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28380698/myoclonus-epilepsy-and-ataxia-due-to-kcnc1-mutation-analysis-of-20-cases-and-k-channel-properties
#15
Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, João Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann, Eva Andermann, Krystyna Spodar, Anetta Lasek-Bal, Patrizia Riguzzi, Elena Pasini, Paolo Tinuper, Laura Licchetta, Elena Gardella, Matthias Lindenau, Annette Wulf, Rikke S Møller, Felix Benninger, Zaid Afawi, Guido Rubboli, Christopher A Reid, Snezana Maljevic, Holger Lerche, Anna-Elina Lehesjoki, Steven Petrou, Samuel F Berkovic
OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium (K(+) ) channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analysed clinical, electroclinical and neuroimaging data for twenty patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch clamp to explore biophysical properties of wild-type and mutant KV 3...
April 5, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28377827/anti-yo-mediated-paraneoplastic-cerebellar-degeneration-associated-with-pseudobulbar-affect-in-a-patient-with-breast-cancer
#16
Allison N Martin, Patrick M Dillon, David E Jones, David R Brenin, David A Lapides
Paraneoplastic cerebellar degeneration (PCD) is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA). Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28376086/novel-insights-into-slc25a46-related-pathologies-in-a-genetic-mouse-model
#17
Maria Eirini Terzenidou, Aikaterini Segklia, Toshimi Kano, Florentia Papastefanaki, Alexandros Karakostas, Maria Charalambous, Fotis Ioakeimidis, Maria Papadaki, Ismini Kloukina, Margarita Chrysanthou-Piterou, Martina Samiotaki, George Panayotou, Rebecca Matsas, Eleni Douni
The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia. SLC25A46 is an outer membrane protein, member of the Solute Carrier 25 (SLC25) family of nuclear genes encoding mitochondrial carriers, with a role in mitochondrial dynamics and cristae maintenance. Here we identified a loss-of-function mutation in the Slc25a46 gene that causes lethal neuropathology in mice...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28374239/radiological-imaging-findings-of-dyke-davidoff-masson-syndrome
#18
Erkan Gökçe, Murat Beyhan, Recep Sade
Radiological findings of Dyke-Davidoff-Masson syndrome (DDMS) in patients with different etiologies are presented in our study. The study included 12 patients (seven females, five males) for whom radiological examinations were requested due to reasons such as epilepsy, mental retardation, and/or hemiplegia. CT was performed in 12, MRI in 6, MRA in 1, and DSA in 1 patient. Following imaging findings were evaluated: cerebral and cerebellar involvement (laterality, encephalomalacia), affected territories, ventricular enlargement, sulcal enlargement, calvarial thickening, and paranasal sinus enlargement hyperaeration...
April 3, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28371804/muscle-pathology-as-a-diagnostic-clue-to-allgrove-syndrome
#19
Jens Reimann, Nicolai Kohlschmidt, Karen Tolksdorf, Joachim Weis, Klaus Kuchelmeister, Andreas Roos
Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in the differential diagnosis for multisystem conditions and should be known to pathologists who diagnose disorders of skeletal muscle...
March 22, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28370817/behavioral-and-neuroanatomical-analyses-in-a-genetic-mouse-model-of-2q13-duplication
#20
Keiko Kishimoto, Jun Nomura, Jacob Ellegood, Keita Fukumoto, Jason P Lerch, Daniel Moreno-De-Luca, Thomas Bourgeron, Kota Tamada, Toru Takumi
Duplications of human chromosome 2q13 have been reported in patients with neurodevelopmental disorder including autism spectrum disorder. Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 nephronophthisis and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem malformation, hypotonia, developmental delay, ataxia, and sometimes associated with cognitive impairment...
March 29, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
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