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Cerebellar ataxia

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https://www.readbyqxmd.com/read/29143300/effect-of-restraining-the-base-of-support-on-the-other-biomechanical-features-in-patients-with-cerebellar-ataxia
#1
C Conte, Mariano Serrao, L Cuius, A Ranavolo, S Conforto, F Pierelli, L Padua
This study aimed to analyze the biomechanical consequences of reducing the base of support in patients with ataxia. Specifically, we evaluated the spatio-temporal parameters, upper- and lower-body kinematics, muscle co-activation, and energy recovery and expenditure. The gaits of 13 patients were recorded using a motion analysis system in unperturbed and perturbed walking conditions. In the latter condition, patients had to walk using the same step width and speed of healthy controls. The perturbed walking condition featured reduced gait speed, step length, hip and knee range of motion, and energy recovery and increased double support duration, gait variability, trunk oscillation, and ankle joint muscle co-activation...
November 15, 2017: Cerebellum
https://www.readbyqxmd.com/read/29141795/validity-and-reliability-of-the-international-cooperative-ataxia-rating-scale-icars-and-the-scale-for-the-assessment-and-rating-of-ataxia-sara-in-multiple-sclerosis-patients-with-ataxia
#2
Yeliz Salcı, Ayla Fil, Hilal Keklicek, Barış Çetin, Kadriye Armutlu, Anıl Dolgun, Aslı Tuncer, Rana Karabudak
BACKGROUND: Ataxia is an extremely common problem in multiple sclerosis (MS) patients. Thus, appropriate scales are required for detailed assessment of this issue. The aim of our study was to investigate the reliability and validity of the Turkish version of the International Cooperative Ataxia Rating Scale (ICARS) and Scale for the Assessment and Rating of Ataxia (SARA), which are widely used in ataxia evaluation in the context of other cerebellar diseases. METHOD: This cross-sectional study included 80 MS patients with Kurtzke cerebellar functional system score (C-FSS) greater than zero and slight pyramidal involvement...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141551/noninvasive-cerebellar-stimulation-as-a-complement-tool-to-pharmacotherapy
#3
Roberta Ferrucci, Tommaso Bocci, Francesca Cortese, Fabiana Ruggiero, Alberto Priori
Cerebellar ataxias represent a wide and heterogeneous group of diseases characterized by balance and coordination disturbance, dysarthria, dyssynergia and adyadococinesia, caused by a dysfunction in the cerebellum. In recent years there has been growing interest in discovering therapeutical strategy for specific forms of cerebellar ataxia. Together with pharmacological studies, there has been growing interest in non-invasive cerebellar stimulation techniques to improve ataxia and limb coordination. Both transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) are non-invasive techniques to modulate cerebro and cerebellar cortex excitability using magnetic or electric fields...
November 14, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/29137817/beyond-als-and-ftd-the-phenotypic-spectrum-of-tbk1-mutations-includes-psp-like-and-cerebellar-phenotypes
#4
Carlo Wilke, Jonathan Baets, Jan L De Bleecker, Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe, Matthis Synofzik
Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains to be elucidated. Using next-generation panel-sequencing of neurodegenerative disease genes, we identified a TBK1 index patient presenting with a progressive supranuclear palsy-like syndrome. Consecutively, we screened the whole-exome sequencing data of 439 index subjects presenting with various neurodegenerative syndromes outside the ALS-FTD spectrum for TBK1 mutations...
October 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29130973/frequency-aetiology-and-outcome-of-small-cerebellar-infarction
#5
Zeljka Calic, Cecilia Cappelen-Smith, Ramesh Cuganesan, Craig S Anderson, Miriam Welgampola, Dennis J Cordato
BACKGROUND AND PURPOSE: Strokes due to small (<2 cm) cerebellar infarction are under-recognised, and their profile and aetiology have not been well characterised. We aimed to determine the frequency, clinical features, aetiology, and outcome of small as compared to large cerebellar infarction. METHODS: This study is a retrospective analysis of clinical and imaging features of a prospectively assessed series of 108 consecutive patients with acute cerebellar infarction admitted to Liverpool Hospital, Sydney, NSW, Australia, during 2011-2015...
November 2, 2017: Cerebrovascular Diseases Extra
https://www.readbyqxmd.com/read/29128742/corrigendum-to-harmony-as-a-convergence-attractor-that-minimizes-the-energy-expenditure-and-variability-in-physiological-gait-and-the-loss-of-harmony-in-cerebellar-ataxia-clin-biomech-48-2017-15-23
#6
Mariano Serrao, Giorgia Chini, Marco Iosa, Carlo Casali, Giovanni Morone, Carmela Conte, Fabiano Bini, Franco Marinozzi, Gianluca Coppola, Francesco Pierelli, Francesco Draicchio, Alberto Ranavolo
No abstract text is available yet for this article.
November 9, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/29127364/comparing-ataxias-with-oculomotor-apraxia-a-multimodal-study-of-aoa1-aoa2-and-at-focusing-on-video-oculography-and-alpha-fetoprotein
#7
L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anheim
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125827/early-cerebellar-deficits-in-mitochondrial-biogenesis-and-respiratory-chain-complexes-in-the-kiko-mouse-model-of-friedreich-ataxia
#8
Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M Clark, Yi Na Dong, Sarah M Halawani, David R Lynch
Friedreich ataxia (FRDA), the most common recessive inherited ataxia, results from deficiency of frataxin, a small mitochondrial protein crucial for iron-sulphur cluster formation and ATP production. Frataxin deficiency is associated with mitochondrial dysfunction in FRDA patients and animal models; however, early mitochondrial pathology in FRDA cerebellum remains elusive. Using frataxin knock-in/knockout (KIKO) mice and KIKO mice carrying the mitoDendra transgene, we show early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in this FRDA model...
November 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29121830/acute-reversible-toxic-encephalopathy-during-capecitabine-and-oxaliplatin-treatment
#9
João Godinho, Mafalda Casa-Nova, Teresa Mesquita, Maria João Baptista, Francisco Araújo, José Vale, José Luís Passos Coelho
Introduction Capecitabine is a fluoropyrimidine commonly used in the treatment of colorectal cancer which may cause central nervous system toxicity, namely cerebellar dysfunction. Case report We describe a 77-year-old man undergoing adjuvant treatment of colon cancer with capecitabine and oxaliplatin who presented with acute cerebellar ataxia and encephalopathy that progressed to coma. Diagnosis of toxic encephalopathy was made after the exclusion of alternative causes of neurological dysfunction and complete resolution of clinical findings with permanent discontinuation of chemotherapy...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29119930/anti-oxidant-drugs-novelties-and-clinical-implications-in-cerebellar-ataxias
#10
Emanuele Barca, Valentina Emmanuele, Salvatore DiMauro, Antonio Toscano, Catarina M Quinzii
Background Hereditary cerebellar ataxias are a group of disorders characterized by heterogeneous clinical manifestations, progressive clinical course and diverse genetic causes. No disease modifying treatments are yet available for many of these disorders. Oxidative stress has been recurrently identified in different progressive cerebellar diseases, and it represents a widely investigated target for treatment. Objective To review the main aspects and new perspectives of antioxidant therapy in cerebellar ataxias ranging from bench to bedside Method This article is a summary of the state-of-the-art on the use of antioxidant molecules in cerebellar ataxia treatments...
November 9, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/29118481/role-of-cytology-in-early-diagnosis-of-cerebrotendinous-xanthomas
#11
Shreosee Roy, Arghya Bandyopadhyay, Kaushik Bose, Soumi Bhattacharyya
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestenol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects, and premature death from arteriosclerosis. Because it is a treatable cause of cerebellar ataxia and dementia, its early diagnosis is desirable. Here, we have reported the case of an 11-year-old boy with this disorder who was diagnosed based on the cytological findings of fine needle aspiration and clinical features...
October 2017: Journal of Cytology
https://www.readbyqxmd.com/read/29116546/sir-gordon-morgan-holmes-1876-1965-one-of-the-founders-of-modern-neurology
#12
Jarosław Jerzy Sak, Andrzej Grzybowski, Jacek Baj
Sir Gordon Morgan Holmes (1876-1965) was one of the most important founders of modern neurology and a great teacher and scientist. He was the first scientist to challenge the theory of the unitary function of the cerebellum and described cerebellar disorders. Holmes together with Thomas Grainger Stewart (1877-1957) described 40 cases of the rebound phenomenon in cerebellar disease (Stewart-Holmes maneuver or Stewart-Holmes test). He also described the symptoms of inherited neurodegenerative spinocerebellar ataxia involving the olivary nucleus (Gordon-Holmes syndrome)...
November 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29116466/breast-cancer-related-paraneoplastic-neurologic-disease
#13
Brittany L Murphy, Nicholas L Zalewski, Amy C Degnim, Andrew McKeon, Eoin P Flanagan, Sean J Pittock, Elizabeth B Habermann
PURPOSE: Paraneoplastic neurologic disease (PND) is an aberrant immune-mediated response against the nervous system triggered by malignancy. Given the rarity, a paucity of data describing breast cancer-related PND (BC-PND) exists; we sought to further examine this specific patient population. METHODS: We retrospectively identified patients at our institution from 1997 to 2016 with BC-PND. Retrospective review with a descriptive analysis determined factors associated with PND and BC, which were compared to national breast cancer median of age (61 years) and average stage at diagnosis (60% local disease)...
November 7, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29114288/lhermitte-duclos-disease-a-rare-cause-of-cerebellar-ataxia
#14
Sanjay Pandey, Neelav Sarma
The aim of this study is to describe a case of Lhermitte-Duclos disease (LDD), which is an extremely rare cause of cerebellar ataxia. LDD is an extremely rare type of benign cerebellar mass and usually manifest as features of raised intracranial pressure and cerebellar dysfunction. Patients may remain asymptomatic for many years, and detection of tumor may be by chance on routine magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). A 29-year-old female presented to the outdoor patient department with 18 months history of a headache, which was moderate to severe in intensity, throbbing in nature, localized to the right side of the head, and associated with nausea and photophobia...
October 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29111419/diagnosis-of-multiple-system-atrophy
#15
REVIEW
Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Horacio Kaufmann
Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias...
October 23, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29111027/sequence-configuration-of-spinocerebellar-ataxia-type-8-repeat-expansions-in-a-japanese-cohort-of-797-ataxia-subjects
#16
Yajun Hu, Yuji Hashimoto, Takashi Ishii, Mamut Rayle, Kazumasa Soga, Nozomu Sato, Michi Okita, Miwa Higashi, Kokoro Ozaki, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokota
Spinocerebellar ataxia type 8 (SCA8), an autosomal dominant neurodegenerative disorder showing slowly progressive cerebellar ataxia, is caused by a tri-nucleotide CTG repeat expansion (CTGexp) in the SCA8 gene. As the CTGexp is not fully penetrant, the significance of screening CTGexp in ataxia subjects remains obscure. We tested SCA8 CTGexp in a cohort of 797 ataxia subjects, and if present, its sequence configuration was analyzed. CTGexp was found in 16 alleles from 14 individuals, 2 of which was homozygous for CTGexp...
November 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#17
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29104740/cerebellum-and-neurodegenerative-diseases-beyond-conventional-magnetic-resonance-imaging
#18
REVIEW
Enricomaria Mormina, Maria Petracca, Giulia Bommarito, Niccolò Piaggio, Sirio Cocozza, Matilde Inglese
The cerebellum plays a key role in movement control and in cognition and cerebellar involvement is described in several neurodegenerative diseases. While conventional magnetic resonance imaging (MRI) is widely used for brain and cerebellar morphologic evaluation, advanced MRI techniques allow the investigation of cerebellar microstructural and functional characteristics. Volumetry, voxel-based morphometry, diffusion MRI based fiber tractography, resting state and task related functional MRI, perfusion, and proton MR spectroscopy are among the most common techniques applied to the study of cerebellum...
October 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/29100951/distinct-cerebellar-regions-related-to-motor-and-cognitive-performance-in-sca6-patients
#19
Zubir Rentiya, Noore-Sabah Khan, Ezgi Ergun, Sarah H Ying, John E Desmond
OBJECTIVE: To demonstrate a correlation between anatomic regional changes in Spinocerebellar Ataxia type 6 (SCA6) patients and measures of cognitive performance on neuropsychological tests. METHODS: Neurocognitive testing was conducted on 24 SCA6 and 28 control subjects. For each cognitive test, SCA6 patients were compared against the controls using Student's t-test. For the cerebellar patients, using voxel based morphometry, correlations between cerebellar gray matter volume at each voxel and performance on the neuropsychological exams were calculated using the Pearson correlation coefficient implemented in SPM8...
October 31, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/29099286/fdg-pet-in-creutzfeldt-jakob-disease-analysis-of-clinical-pet-correlation
#20
Dimitri Renard, Giovanni Castelnovo, Laurent Collombier, Eric Thouvenot, Vincent Boudousq
OBJECTIVE: To assess the relationship between clinical pattern and cerebral glucose metabolism on [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) in Creutzfeldt-Jakob disease (CJD). METHODS: Predefined clinical signs (ataxia, visual, pyramidal, myoclonus, limb apraxia, limb dystonia, sensory, parkinsonism, and corticobasal syndrome [CBS]) and FDG-PET data were assessed in consecutive CJD patients. Two types of statistical parametric mapping (SPM) analyses, using stringent level of significance p<0...
November 3, 2017: Prion
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