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https://www.readbyqxmd.com/read/29116546/sir-gordon-morgan-holmes-1876-1965-one-of-the-founders-of-modern-neurology
#1
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/29116080/structural-basis-for-high-affinity-actin-binding-revealed-by-a-%C3%AE-iii-spectrin-sca5-missense-mutation
#2
Adam W Avery, Michael E Fealey, Fengbin Wang, Albina Orlova, Andrew R Thompson, David D Thomas, Thomas S Hays, Edward H Egelman
Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caused by mutations in the cytoskeletal protein β-III-spectrin. Previously, a SCA5 mutation resulting in a leucine-to-proline substitution (L253P) in the actin-binding domain (ABD) was shown to cause a 1000-fold increase in actin-binding affinity. However, the structural basis for this increase is unknown. Here, we report a 6.9 Å cryo-EM structure of F-actin complexed with the L253P ABD. This structure, along with co-sedimentation and pulsed-EPR measurements, demonstrates that high-affinity binding caused by the CH2-localized mutation is due to opening of the two CH domains...
November 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/29111377/mass-spectrometry-analyses-of-normal-and-polyglutamine-expanded-ataxin-3-reveal-novel-interaction-partners-involved-in-mitochondrial-function
#3
Line V Kristensen, Felix S Oppermann, Matthias J Rauen, Karina Fog, Thorsten Schmidt, Jana Schmidt, Tina Harmuth, Rasmus Hartmann-Petersen, Kenneth Thirstrup
Deubiquitinating enzymes (DUBs) play important roles in a variety of cellular processes, including regulation of protein homeostasis. The DUB ataxin-3 is an enzyme implicated in protein quality control mechanisms. In the neurodegenerative disease spinocerebellar ataxia type 3 (SCA3), ataxin-3 contains an expanded polyglutamine (polyQ) stretch that leads to aggregation of the protein and neuronal dysfunction. Increasing the understanding of ataxin-3 protein interaction partners could help to elucidate disease mechanisms...
October 27, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29111027/sequence-configuration-of-spinocerebellar-ataxia-type-8-repeat-expansions-in-a-japanese-cohort-of-797-ataxia-subjects
#4
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/29106465/a-strategy-for-multimodal-data-integration-application-to-biomarkers-identification-in-spinocerebellar-ataxia
#5
Imene Garali, Isaac M Adanyeguh, Farid Ichou, Vincent Perlbarg, Alexandre Seyer, Benoit Colsch, Ivan Moszer, Vincent Guillemot, Alexandra Durr, Fanny Mochel, Arthur Tenenhaus
The growing number of modalities (e.g. multi-omics, imaging and clinical data) characterizing a given disease provides physicians and statisticians with complementary facets reflecting the disease process but emphasizes the need for novel statistical methods of data analysis able to unify these views. Such data sets are indeed intrinsically structured in blocks, where each block represents a set of variables observed on a group of individuals. Therefore, classical statistical tools cannot be applied without altering their organization, with the risk of information loss...
July 3, 2017: Briefings in Bioinformatics
https://www.readbyqxmd.com/read/29101844/early-corticospinal-tract-damage-in-prodromal-sca2-revealed-by-eeg-emg-and-emg-emg-coherence
#6
Luis Velázquez-Pérez, Johannes Tünnerhoff, Roberto Rodríguez-Labrada, Reidenis Torres-Vega, Yusely Ruiz-Gonzalez, Paolo Belardinelli, Jacqueline Medrano-Montero, Nalia Canales-Ochoa, Yanetza González-Zaldivar, Yaimeé Vazquez-Mojena, Georg Auburger, Ulf Ziemann
OBJECTIVE: Clinical data suggest early involvement of the corticospinal tract (CST) in spinocerebellar ataxia type 2 (SCA2). Here we tested if early CST degeneration can be detected in prodromal SCA2 mutation carriers by electrophysiological markers of CST integrity. METHODS: CST integrity was tested in 15 prodromal SCA2 mutation carriers, 19 SCA2 patients and 25 age-matched healthy controls, using corticomuscular (EEG-EMG) and intermuscular (EMG-EMG) coherence measures in upper and lower limb muscles...
October 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29100951/distinct-cerebellar-regions-related-to-motor-and-cognitive-performance-in-sca6-patients
#7
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/29100096/dominant-mutations-in-grm1-cause-spinocerebellar-ataxia-type-44
#8
Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B E Becker, Andrea H Németh
No abstract text is available yet for this article.
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29089256/dystonia-and-ataxia-progression-in-spinocerebellar-ataxias
#9
Pei-Hsin Kuo, Shi-Rui Gan, Jie Wang, Raymond Y Lo, Karla P Figueroa, Darya Tomishon, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
BACKGROUND: Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known. OBJECTIVES: To study clinical characteristics and ataxia progression in SCAs with and without dystonia. METHODS: We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia...
October 23, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29078305/%C3%AE-iii-spectrin-spinocerebellar-ataxia-type-5-mutation-reveals-a-dominant-cytoskeletal-mechanism-that-underlies-dendritic-arborization
#10
Adam W Avery, David D Thomas, Thomas S Hays
A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding domain (ABD) of β-III-spectrin causes high-affinity actin binding and decreased thermal stability in vitro. Here we show in mammalian cells, at physiological temperature, that the mutant ABD retains high-affinity actin binding. Significantly, we provide evidence that the mutation alters the mobility and recruitment of β-III-spectrin in mammalian cells, pointing to a potential disease mechanism. To explore this mechanism, we developed a Drosophila SCA5 model in which an equivalent mutant Drosophila β-spectrin is expressed in neurons that extend complex dendritic arbors, such as Purkinje cells, targeted in SCA5 pathogenesis...
October 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29064469/movement-disorders-patients-with-spinocerebellar-ataxia-38-benefit-from-dha-supplementation
#11
Heather Wood
No abstract text is available yet for this article.
October 23, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29061563/rescue-of-atxn3-neuronal-toxicity-in-c-elegans-by-chemical-modification-of-er-stress
#12
Yasmin Fardghassemi, Arnaud Tauffenberger, Sarah Gosselin, J Alex Parker
Background: Polyglutamine expansion diseases are a group of hereditary neurodegenerative disorders that develop when a CAG repeat in the causative genes are unstably expanded above a certain threshold. The expansion of trinucleotide CAG repeats cause hereditary adult-onset neurodegenerative disorders such as Huntington's disease, dentatorubral-pallidoluysian atrophy, spinobulbar muscular atrophy and multiple forms of spinocerebellar ataxia (SCA). The most common dominantly inherited spinocerebellar ataxia is the type 3 (SCA3) also known as Machado-Joseph disease (MJD), is an autosomal dominant, progressive neurological disorder...
October 23, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29057148/postural-tremor-and-ataxia-progression-in-spinocerebellar-ataxias
#13
Shi-Rui Gan, Jie Wang, Karla P Figueroa, Stefan M Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
BACKGROUND: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. METHODS: We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29054954/cerebellar-ataxia-and-neuropathy-as-presenting-features-of-hepatitis-b-related-cirrhosis-and-portal-hypertension
#14
Arunmozhi Elavarasi, Deepa Dash, Manjari Tripathi, Rohit Bhatia
Adult onset cerebellar dysfunction with neuropathy is a commonly encountered condition and is usually due to genetic causes such as spinocerebellar ataxia, gluten ataxia, alcohol related, toxic, degenerative, immune mediated, paraneoplastic causes and so on. Ataxia and neuropathy as presenting features of hepatitis-B related liver disease are very rare and have not been reported so far.
October 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#15
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053796/exome-sequencing-and-network-analysis-identifies-shared-mechanisms-underlying-spinocerebellar-ataxia
#16
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbeek
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29046994/peripheral-markers-of-autophagy-in-polyglutamine-diseases
#17
Giorgia Puorro, Angela Marsili, Francesca Sapone, Chiara Pane, Anna De Rosa, Peluso Silvio, Giuseppe De Michele, Alessandro Filla, Francesco Saccà
Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington's disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0...
October 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29046784/the-role-of-gene-variants-in-the-pathogenesis-of-neurodegenerative-disorders-as-revealed-by-next-generation-sequencing-studies-a-review
#18
REVIEW
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29031602/microstructural-mri-basis-of-the-cognitive-functions-in-patients-with-spinocerebellar-ataxia-type-2
#19
G Olivito, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Cercignani, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum. The particular atrophy pattern results in some typical clinical features mainly including motor deficits. In addition, the presence of cognitive impairments, involving language, visuospatial and executive functions, has been also shown in SCA2 patients and it is now widely accepted as a feature of the disease. The aim of the study is to investigate the microstructural patterns and the anatomo-functional substrate that could account for the cognitive symptomatology observed in SCA2 patients...
October 12, 2017: Neuroscience
https://www.readbyqxmd.com/read/29019918/protein-misfolding-and-aggregation-as-a-therapeutic-target-for-polyglutamine-diseases
#20
REVIEW
Toshihide Takeuchi, Yoshitaka Nagai
The polyglutamine (polyQ) diseases, such as Huntington's disease and several types of spinocerebellar ataxias, are a group of inherited neurodegenerative diseases that are caused by an abnormal expansion of the polyQ tract in disease-causative proteins. Proteins with an abnormally expanded polyQ stretch undergo a conformational transition to β-sheet rich structure, which assemble into insoluble aggregates with β-sheet rich amyloid fibrillar structures and accumulate as inclusion bodies in neurons, eventually leading to neurodegeneration...
October 11, 2017: Brain Sciences
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