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https://www.readbyqxmd.com/read/27898603/an-ultra-high-field-study-of-cerebellar-pathology-in-early-relapsing-remitting-multiple-sclerosis-using-mp2rage
#1
Mário João Fartaria, Kieran OʼBrien, Alexandra Şorega, Guillaume Bonnier, Alexis Roche, Pavel Falkovskiy, Gunnar Krueger, Tobias Kober, Meritxell Bach Cuadra, Cristina Granziera
OBJECTIVES: The aim of this study was to study focal cerebellar pathology in early stages of multiple sclerosis (MS) using ultra-high-field magnetization-prepared 2 inversion-contrast rapid gradient-echo (7T MP2RAGE). MATERIALS AND METHODS: Twenty early-stage relapsing-remitting MS patients underwent an MP2RAGE acquisition at 7 T magnetic resonance imaging (MRI) (images acquired at 2 different resolutions: 0.58 × 0.58 × 0.58 mm, 7T_0.58, and 0.75 × 0.75 × 0...
November 28, 2016: Investigative Radiology
https://www.readbyqxmd.com/read/27892702/slowly-progressive-motor-neuron-disease-with-multi-system-involvement-related-to-p-e121g-sod1-mutation
#2
Guillaume Taieb, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Serge Lumbroso, Kevin Mouzat, William Camu
We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27882168/monozygotic-twins-with-infantile-neuroaxonal-dystrophy-a-case-report-and-literature-review
#3
Haifeng Li, Yan Zou, Xinhua Bao, Hui Wang, Jiangping Wang, Huiying Jin, Yuping Che, Xiaoyan Tang
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease with early onset. PLA2G6 gene mutations have been identified in the majority individuals with INAD. In future, molecular diagnosis of INAD will replace the invasive biopsies used previously. In the present report, monozygotic male twins with INAD were referred The Children's Hospital (Zhejiang University School of Medicine, Zhejiang, China) at fifteen months old for delayed development. The older brother was found to have developmental stagnation when he was 6 months old...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#4
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
Objective: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN. Method: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging...
November 21, 2016: Neuropsychology
https://www.readbyqxmd.com/read/27862915/a-de-novo-missense-mutation-in-the-inositol-1-4-5-triphosphate-receptor-type-1-gene-causing-severe-pontine-and-cerebellar-hypoplasia-expanding-the-phenotype-of-itpr1-related-spinocerebellar-ataxia-s
#5
Tessa van Dijk, Peter Barth, Liesbeth Reneman, Bart Appelhof, Frank Baas, Bwee Tien Poll-The
We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a patient with severe pontocerebellar hypoplasia. The mutation results in an amino acid substitution of a highly conserved isoleucine by asparagine (p. I2550N) in the transmembrane domain. Mutations and deletions of the ITPR1 gene are associated with several types of autosomal dominant spinocerebellar ataxia, varying in age of onset and severity. Patients have signs of cerebellar ataxia and at most, a mild cerebellar atrophy on MRI...
November 9, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862279/pet-and-mri-detection-of-early-and-progressive-neurodegeneration-in-spinocerebellar-ataxia-type-36
#6
Pablo Aguiar, Julio Pardo, Manuel Arias, Beatriz Quintáns, Montse Fernández-Prieto, Rocío Martínez-Regueiro, José-Manuel Pumar, Jesús Silva-Rodríguez, Álvaro Ruibal, María-Jesús Sobrido, Julia Cortés
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. METHODS: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27858718/finger-to-nose-test-findings-in-alzheimer-s-disease
#7
David Bergeron, Antoine Vermette, Justine De La Sablonnière, Anne-Marie Cayer, Robert Laforce, Rémi W Bouchard
The finger-to-nose test is routinely performed during the clinical assessment of patients with cognitive impairments. Although widely known to screen for cerebellar dysfunction by unmasking appendicular ataxia, we have found that this test could also be interpreted from a cognitive perspective. We describe two typical signs observed at the finger-to-nose test in Alzheimer's disease (AD) patients: the "second finger syndrome" and the "distal pressure sign". By retrospectively reviewing the medical records 461 patients followed at our academic memory clinic, we found that these signs are commonplace in AD, but not in vascular dementia or subjective cognitive impairment...
November 14, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27858381/fatal-rupture-of-dissecting-anterior-inferior-cerebellar-artery-aneurysm-as-an-unexpected-complication-after-anterior-skull-base-surgery-a-case-report
#8
Eyyub S Al-Beyati, Ihsan Dogan, Agahan Ünlü, Melih Bozkurt
Aneurysm of the anterior inferior cerebellar artery (AICA) is a very rare entity and the manifestation and manipulation of such aneurysms remain contentious. In this paper, we report a case where a successful surgery for an olfactory groove meningioma was performed and the patient discharged but readmitted to hospital with loss of consciousness and subsequently passed away three hours after re-admission. The patient was diagnosed with subarachnoid hemorrhage. The cause of the fatal subarachnoid hemorrhage was rupture of a new onsetting AICA dissecting aneurysm which had provided neither clinical nor radiological signs before the operation...
October 13, 2016: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27858371/hyperammonemia-as-a-presenting-feature-in-two-siblings-with-fbxl4-variants
#9
Sarah U Morton, Edward G Neilan, Roy W A Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne, Kyriacos Markianos, Sanjay P Prabhu, Pankaj B Agrawal
Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in FBXL4 who each presented in the neonatal period with hyperammonemia, low plasma levels of aspartate, low urine levels of tricarboxylic acid cycle intermediates suggesting a defect in anaplerosis, and cerebellar hypoplasia in addition to lactic acidosis and other classic signs of mitochondrial encephalomyopathy...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#10
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27857932/the-neck-and-posterior-fossa-combined-penetrating-injury-a-case-report
#11
Hyun Jin Han, Jun Ho Jung, Chang Ki Hong, Yong Bae Kim
Here we report a case of penetrating neck injury to the posterior fossa that was shown, using high-resolution computed tomography (HRCT) and digital subtraction angiography (DSA), to involve no vascular injury. A 54-year-old man was brought to the emergency department after a penetrating injury to the left side of the posterior neck and occipital area with a knife. He was in an intoxicated state and could not communicate readily. On initial examination, his vital signs were stable and there was no active bleeding from the penetrating site...
October 2016: Korean Journal of Neurotrauma
https://www.readbyqxmd.com/read/27855656/combined-focal-myoclonus-and-dystonia-secondary-to-a-cerebellar-hemorrhage-a-case-report
#12
Guangxun Shen, Guangxian Nan, Chae-Won Shin, Hyeyoung Park, Kwee-Yum Lee, Beomseok Jeon
BACKGROUND: Myoclonus is a clinical sign characterized by sudden, brief jerky, shock-like involuntary movements of a muscle or group of muscles. Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Cases of myoclonus or dystonia secondary to a structural lesion in the cerebellum have been reported. However, there has never been a reported case of combined myoclonus and dystonia secondary to a cerebellar lesion...
November 17, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27848124/reversible-cerebral-vasoconstriction-syndrome-and-posterior-reversible-encephalopathy-syndrome-associated-with-intracranial-hypotension
#13
Katharina Feil, Robert Forbrig, Franziska S Thaler, Julian Conrad, Suzette Heck, Franziska Dorn, Hans-Walter Pfister, Andreas Straube
BACKGROUND: Reversible cerebral vasoconstriction syndrome (RCVS) and posterior reversible encephalopathy syndrome (PRES) are both rare disorders. The pathophysiology of both diseases is not yet fully understood. METHODS: We report the unique case of a 19-year-old comatose woman who was brought to the ER after a series of generalized tonic-clonic seizures 6 days post peridural anesthesia for cesarean section. Vital signs and initial laboratory testing including urine analysis and drug screening were unremarkable...
November 15, 2016: Neurocritical Care
https://www.readbyqxmd.com/read/27832354/neuropsychological-improvement-after-posterior-fossa-arachnoid-cyst-drainage
#14
M L Cuny, M Pallone, H Piana, N Boddaert, C Sainte-Rose, L Vaivre-Douret, P Piolino, S Puget
PURPOSE: Posterior fossa arachnoid cysts (PFAC) are mostly considered as benign lesions of the cerebellum. Although many studies have shown the major role of the cerebellum in modulating movement, language, cognition, and social interaction, there are few studies on the cognitive impact and surgical decompression of PFAC. METHODS: We present the cases of two brothers successively diagnosed with PFAC and neuropsychological delay. After multidisciplinary discussion with the boys' parents, it was decided to drain these lesions...
November 10, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27825990/garcinia-kola-aqueous-suspension-prevents-cerebellar-neurodegeneration-in-long-term-diabetic-rat-a-type-1-diabetes-mellitus-model
#15
Mohammed Farahna, Paul F Seke Etet, Sayed Y Osman, Kıymet K Yurt, Naheed Amir, Lorella Vecchio, Isınsu Aydin, Yousef H Aldebasi, Azimullah Sheikh, John C Chijuka, Süleyman Kaplan, Abdu Adem
ETHNOPHARMACOLOGICAL RELEVANCE: The development of compounds able to improve metabolic syndrome and mitigate complications caused by inappropriate glycemic control in type 1 diabetes mellitus is challenging. The medicinal plant with established hypoglycemic properties Garcinia kola Heckel might have the potential to mitigate diabetes mellitus metabolic syndrome and complications. AIM OF THE STUDY: We have investigated the neuroprotective properties of a suspension of G...
November 5, 2016: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/27824897/functional-plasticity-after-unilateral-vestibular-midbrain-infarction-in-human-positron-emission-tomography
#16
Sandra Becker-Bense, Hans-Georg Buchholz, Bernhard Baier, Mathias Schreckenberger, Peter Bartenstein, Andreas Zwergal, Thomas Brandt, Marianne Dieterich
The aim of the study was to uncover mechanisms of central compensation of vestibular function at brainstem, cerebellar, and cortical levels in patients with acute unilateral midbrain infarctions presenting with an acute vestibular tone imbalance. Eight out of 17 patients with unilateral midbrain infarctions were selected on the basis of signs of a vestibular tone imbalance, e.g., graviceptive (tilts of perceived verticality) and oculomotor dysfunction (skew deviation, ocular torsion) in F18-fluordeoxyglucose (FDG)-PET at two time points: A) in the acute stage, and B) after recovery 6 months later...
2016: PloS One
https://www.readbyqxmd.com/read/27816346/-neuro-langerhans-cell-histiocytosis
#17
Loïc Le Guennec, Nadine Martin-Duverneuil, Karima Mokhtari, Maria Santiago-Ribeiro, Eléonore Bayen, Antoine Del Cul, Daniel Delgadillo, Aurélie Kas, Carine Courtillot, Julien Haroche, Fleur Cohen, Jean Donadieu, Khê Hoang-Xuan, Ahmed Idbaih
Langerhans cell histiocytosis (LCH) is a rare multisystemic disease. LCH is characterized by proliferation of myeloid progenitors with altered differentiation program and similar phenotypic features to epidermal dendritic cells termed Langerhans cell. LCH cells express CD1a+ and langerin and exhibit BRAF V600E mutation in ∼50% of cases. Neurological involvement or neuro-LCH is observed in 5 to 10% of cases. Three subtypes of neuro-LCH are individualized. The tumor type, accounting for 45% of neuro-LCH, affect mainly young adults...
November 2, 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27815992/contralateral-hearing-loss-and-facial-palsy-in-an-operated-case-of-vestibular-schwannoma-case-report
#18
Abhijit Warade, Pawan Chawla, Anshu Warade, Ketan Desai
INTRODUCTION: Contralateral ear hearing loss (CHL) is an extremely rare but a potentially devastating complication in a patient with already compromised hearing due to a Vestibular schwannoma (VS). Our patient had CHL accompanied by contralateral facial palsy. Our case is only the second case reported in literature to the best of our knowledge. PRESENTATION OF CASE: A 55-year elderly male presented with right sided sensorineural hearing loss, cerebellar signs and Grade II House & Brackmann (H&B) facial nerve weakness for last1-year...
October 17, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27807855/atypical-scrapie-in-australia
#19
R W Cook, J Bingham, A S Besier, C L Bayley, M Hawes, P L Shearer, M Yamada, J Bergfeld, D T Williams, D J Middleton
BACKGROUND: Since its initial detection in Norway in 1998, atypical scrapie ('atypical/Nor98 scrapie') has been reported in sheep in the majority of European countries (including in regions free of classical scrapie) and in the Falkland Islands, the USA, Canada, New Zealand and Australia. CASE SERIES: The diagnosis in Australia of atypical scrapie in four Merino and one Merino-cross sheep showing clinical signs of neurological disease was based on the detection of grey matter neuropil vacuolation (spongiform change) in the brain (particularly in the molecular layer of the cerebellar cortex) and associated abnormal prion protein (PrP(Sc) ) deposition in both grey and white matter...
November 3, 2016: Australian Veterinary Journal
https://www.readbyqxmd.com/read/27802825/mog-igg-in-nmo-and-related-disorders-a-multicenter-study-of-50-patients-part-3-brainstem-involvement-frequency-presentation-and-outcome
#20
Sven Jarius, Ingo Kleiter, Klemens Ruprecht, Nasrin Asgari, Kalliopi Pitarokoili, Nadja Borisow, Martin W Hümmert, Corinna Trebst, Florence Pache, Alexander Winkelmann, Lena-Alexandra Beume, Marius Ringelstein, Oliver Stich, Orhan Aktas, Mirjam Korporal-Kuhnke, Alexander Schwarz, Carsten Lukas, Jürgen Haas, Kai Fechner, Mathias Buttmann, Judith Bellmann-Strobl, Hanna Zimmermann, Alexander U Brandt, Diego Franciotta, Kathrin Schanda, Friedemann Paul, Markus Reindl, Brigitte Wildemann
BACKGROUND: Myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) are present in a subset of aquaporin-4 (AQP4)-IgG-negative patients with optic neuritis (ON) and/or myelitis. Little is known so far about brainstem involvement in MOG-IgG-positive patients. OBJECTIVE: To investigate the frequency, clinical and paraclinical features, course, outcome, and prognostic implications of brainstem involvement in MOG-IgG-positive ON and/or myelitis. METHODS: Retrospective case study...
November 1, 2016: Journal of Neuroinflammation
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