keyword
MENU ▼
Read by QxMD icon Read
search

spinocerebellar

keyword
https://www.readbyqxmd.com/read/29777722/ca-2-signaling-and-spinocerebellar-ataxia
#1
REVIEW
Chihiro Hisatsune, Kozo Hamada, Katsuhiko Mikoshiba
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite the great diversity and distinct functionalities of the SCA-related genes, accumulating evidence supports the occurrence of a common pathophysiological event among several hereditary SCAs...
May 16, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29777115/a-randomized-controlled-pilot-trial-of-game-based-training-in-individuals-with-spinocerebellar-ataxia-type-3
#2
Ray-Yau Wang, Fang-Yi Huang, Bing-Wen Soong, Shih-Fong Huang, Yea-Ru Yang
Exergames are interactive video games used for exercise and may have therapeutic value in people with degenerative ataxia. The purpose of this study was to investigate potential effects of exergaming training on cerebellar ataxia in people with spinocerebellar ataxia type 3 (SCA3). Nine individuals with SCA3 were recruited and randomized to either exergaming or conventional group for a 4-week training period. The severity of ataxia was measured as the primary outcome by the Scale for the Assessment and Rating of Ataxia (SARA) and by the directional control of the limit of stability test...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29772202/rnp-granule-assembly-via-ataxin-2-disordered-domains-is-required-for-long-term-memory-and-neurodegeneration
#3
Baskar Bakthavachalu, Joern Huelsmeier, Indulekha P Sudhakaran, Jens Hillebrand, Amanjot Singh, Arnas Petrauskas, Devasena Thiagarajan, M Sankaranarayanan, Laura Mizoue, Eric N Anderson, Udai Bhan Pandey, Eric Ross, K VijayRaghavan, Roy Parker, Mani Ramaswami
Human Ataxin-2 is implicated in the cause and progression of amyotrophic lateral sclerosis (ALS) and type 2 spinocerebellar ataxia (SCA-2). In Drosophila, a conserved atx2 gene is essential for animal survival as well as for normal RNP-granule assembly, translational control, and long-term habituation. Like its human homolog, Drosophila Ataxin-2 (Atx2) contains polyQ repeats and additional intrinsically disordered regions (IDRs). We demonstrate that Atx2 IDRs, which are capable of mediating liquid-liquid phase transitions in vitro, are essential for efficient formation of neuronal mRNP assemblies in vivo...
May 16, 2018: Neuron
https://www.readbyqxmd.com/read/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#4
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29763923/bidirectional-connections-between-depression-and-ataxia-severity-in-spinocerebellar-ataxia-type-3-patients
#5
Min-Ting Lin, Jin-Shan Yang, Ping-Ping Chen, Mei-Zhen Qian, Hui-Xia Lin, Xiao-Ping Chen, Xian-Jin Shang, Dan-Ni Wang, Yu-Chao Chen, Bin Jiang, Yi-Jun Chen, Wan-Jin Chen, Ning Wang, Shi-Rui Gan
BACKGROUND: Spinocerebellar ataxia type 3 (SCA3), which is the most common subtype of SCA worldwide, exhibits common neuropsychological symptoms such as depression. However, the contribution of depression to the severity of SCA3 has not yet been thoroughly investigated. METHODS: The present study investigated the prevalence of depression using Beck depression inventory in 104 molecularly confirmed SCA3 patients from China. The putative risk factors for depression and whether the depression could affect the severity of ataxia were established by multivariable linear regression models...
May 15, 2018: European Neurology
https://www.readbyqxmd.com/read/29758256/reduction-of-protein-kinase-a-mediated-phosphorylation-of-atxn1-s776-in-purkinje-cells-delays-onset-of-ataxia-in-a-sca1-mouse-model
#6
Judit M Pérez Ortiz, Nissa Mollema, Nicholas Toker, Carolyn J Adamski, Brennon O'Callaghan, Lisa Duvick, Jillian Friedrich, Michael A Walters, Jessica Strasser, Jon E Hawkinson, Huda Y Zoghbi, Christine Henzler, Harry T Orr, Sarita Lagalwar
Spinocerebellar ataxia type 1 (SCA1) is a polyglutamine (polyQ) repeat neurodegenerative disease in which a primary site of pathogenesis are cerebellar Purkinje cells. In addition to polyQ expansion of ataxin-1 protein (ATXN1), phosphorylation of ATXN1 at the serine 776 residue (ATXN1-pS776) plays a significant role in protein toxicity. Utilizing a biochemical approach, pharmacological agents and cell-based assays, including SCA1 patient iPSC-derived neurons, we examine the role of Protein Kinase A (PKA) as an effector of ATXN1-S776 phosphorylation...
May 11, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29756284/factors-associated-with-atxn2-cag-caa-repeat-intergenerational-instability-in-spinocerebellar-ataxia-type-2
#7
L E Almaguer-Mederos, J M L Mesa, Y González-Zaldívar, D Almaguer-Gotay, D Cuello-Almarales, R Aguilera-Rodríguez, N S Falcón, S Gispert, G Auburger, L Velázquez-Pérez
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a CAG/CAA repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (LNA, Q24-31) were significantly more unstable upon maternal transmissions. In contrast, expanded alleles (EA, Q32-750) were significantly more unstable during paternal transmissions, in correlation with repeat length...
May 14, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29753755/polarization-sensitive-optical-coherence-tomography-reveals-gray-matter-and-white-matter-atrophy-in-sca1-mouse-models
#8
Chao J Liu, Orion Rainwater, H Brent Clark, Harry T Orr, Taner Akkin
Spinocerebellar ataxia type 1 (SCA1) is a fatal inherited neurodegenerative disease. In this study, we demonstrate the label-free optical imaging methodology that can detect, with a high degree of sensitivity, discrete areas of degeneration in the cerebellum of the SCA1 mouse models. We used ATXN1[82Q] and ATXN1[30Q]-D776 mice in which the transgene is directed only to Purkinje cells. Molecular layer, granular layer, and white matter regions are analyzed using the intrinsic contrasts provided by polarization-sensitive optical coherence tomography...
May 10, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29741614/loss-of-cerebellar-glutamate-transporters-eaat4-and-glast-differentially-affects-the-spontaneous-firing-pattern-and-survival-of-purkinje-cells
#9
Emma M Perkins, Yvonne L Clarkson, Daumante Suminaite, Alastair R Lyndon, Kohichi Tanaka, Jeffrey D Rothstein, Paul Skehel, David J A Wyllie, Mandy Jackson
Loss of excitatory amino acid transporters (EAATs) has been implicated in a number of human diseases including spinocerebellar ataxias, Alzhiemer's disease and motor neuron disease. EAAT4 and GLAST/EAAT1 are the two predominant EAATs responsible for maintaining low extracellular glutamate levels and preventing neurotoxicity in the cerebellum, the brain region essential for motor control. Here using genetically modified mice we identify new critical roles for EAAT4 and GLAST/EAAT1 as modulators of Purkinje cell (PC) spontaneous firing patterns...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29740392/anti-saccades-in-cerebellar-ataxias-reveal-a-contribution-of-the-cerebellum-in-executive-functions
#10
Elena Pretegiani, Pietro Piu, Francesca Rosini, Pamela Federighi, Valeria Serchi, Gemma Tumminelli, Maria Teresa Dotti, Antonio Federico, Alessandra Rufa
Objective: Increasing evidence suggests a cerebellar contribution to modulate cognitive aspects of motor behavior and executive functions. Supporting findings come from studies on patients with neurodegenerative diseases, in which however, given the extent of the disease, the specific role of the cerebellum, could not be clearly isolated. Anti-saccades are considered a sensitive tool to test executive functions. The anti-saccade underlying neural network, consisting of different cortical areas and their downstream connections including the lateral cerebellum, has been largely clarified...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29737427/serum-neurofilament-light-is-increased-in-multiple-system-atrophy-of-cerebellar-type-and-in-repeat-expansion-spinocerebellar-ataxias-a-pilot-study
#11
Carlo Wilke, Friedemann Bender, Stefanie N Hayer, Kathrin Brockmann, Ludger Schöls, Jens Kuhle, Matthis Synofzik
Blood biomarkers in degenerative ataxias are still largely missing. Here, we aimed to provide piloting proof-of-concept that serum Neurofilament light (NfL) could offer a promising peripheral blood biomarker in degenerative ataxias. Specifically, as a marker of neuronal damage, NfL might (1) help to differentiate multiple system atrophy of cerebellar type (MSA-C) from sporadic adult-onset ataxia (SAOA), and (2) show increases in repeat-expansion spinocerebellar ataxias (SCAs) which might be amenable to treatment in the future...
May 8, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29734917/body-composition-in-spinocerebellar-ataxia-type-3-and-10-patients-comparative-study-with-control-group
#12
Christiane de M B Almeida Leite, Maria Eliana M Schieferdecker, Caroline Frehner, Renato P Munhoz, Tetsuo Ashizawa, Hélio A G Teive
BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative genetic diseases characterized by movement disorders that can affect nutritional status and body composition. This study sought to assess body composition in SCA3 and SCA10 patients. METHODS: Anthropometric assessments and bioelectric impedance analysis were performed in 46 SCA3 and SCA10 patients and 76 controls of both genders. RESULTS: Of the patients, 69.6% had SCA3 and 58...
May 7, 2018: Nutritional Neuroscience
https://www.readbyqxmd.com/read/29726814/structure-of-the-human-lipid-gated-cation-channel-trpc3
#13
Chen Fan, Wooyoung Choi, Weinan Sun, Juan Du, Wei Lu
The TRPC channels are crucially involved in store-operated calcium entry and calcium homeostasis, and they are implicated in human diseases such as neurodegenerative disease, cardiac hypertrophy, and spinocerebellar ataxia. We present a structure of the full-length human TRPC3, a lipid-gated TRPC member, in a lipid-occupied, closed state at 3.3 Angstrom. TRPC3 has four elbow-like membrane reentrant helices prior to the first transmembrane helix. The TRP helix is perpendicular to, and thus disengaged from, the pore-lining S6, suggesting a different gating mechanism from other TRP subfamily channels...
May 4, 2018: ELife
https://www.readbyqxmd.com/read/29725949/far-infrared-radiation-improves-motor-dysfunction-and-neuropathology-in-spinocerebellar-ataxia-type-3-mice
#14
Shin-Wu Liu, Jui-Chih Chang, Sheng-Fei Chuang, Ko-Hung Liu, Wen-Ling Cheng, Hui-Ju Chang, Huei-Shin Chang, Ta-Tsung Lin, Ching-Liang Hsieh, Wei-Yong Lin, Mingli Hsieh, Shou-Jen Kuo, Chin-San Liu
Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine neurodegenerative disease resulting from the misfolding and accumulation of a pathogenic protein, causing cerebellar dysfunction, and this disease currently has no effective treatments. Far-infrared radiation (FIR) has been found to protect the viability of SCA3 cells by preventing mutant ataxin-3 protein aggregation and promoting autophagy. However, this possible treatment still lacks in vivo evidence. This study assessed the effect of FIR therapy on SCA3 in vivo by using a mouse model over 28 weeks...
May 3, 2018: Cerebellum
https://www.readbyqxmd.com/read/29725948/neuromagnetic-cerebellar-activity-entrains-to-the-kinematics-of-executed-finger-movements
#15
Brice Marty, V Wens, M Bourguignon, G Naeije, S Goldman, V Jousmäki, X De Tiège
This magnetoencephalography (MEG) study aims at characterizing the coupling between cerebellar activity and the kinematics of repetitive self-paced finger movements. Neuromagnetic signals were recorded in 11 right-handed healthy adults while they performed repetitive flexion-extensions of right-hand fingers at three different movement rates: slow (~ 1 Hz), medium (~ 2 Hz), and fast (~ 3 Hz). Right index finger acceleration was monitored with an accelerometer. Coherence analysis was used to index the coupling between right index finger acceleration and neuromagnetic signals...
May 3, 2018: Cerebellum
https://www.readbyqxmd.com/read/29725839/executive-dysfunction-in-patients-with-spinocerebellar-ataxia-type-3
#16
Itaru Tamura, Asako Takei, Shinsuke Hamada, Hiroyuki Soma, Michio Nonaka, Sanae Homma, Fumio Moriwaka
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 3(SCA3). We examined 15 patients with genetically confirmed SCA3 and 15 healthy control subjects matched for age, years of education, and intellectual ability. We administered verbal memory (word recall and word recognition) and executive function tasks (word fluency test, forward and backward digit and visual span tests, Kana Pick-out Test, Trail Making Test, and conflicting instructions and a Go/NoGo task from the Frontal Assessment Battery)...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29720801/spinocerebellar-ataxia-21-in-a-turkish-child
#17
Faruk Incecik, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29720794/evaluation-of-various-movement-disorders-in-patients-of-genetically-proven-spinocerebellar-ataxia-a-study-from-a-tertiary-care-center-in-northern-india
#18
Divya M Radhakrishnan, Vinay Goyal, Achal Kumar Srivastava, Garima Shukla, Madhuri Behari
Background: Movement disorders are one of the prominent nonataxic symptoms in patients of spinocerebellar ataxia (SCA). The type of movement disorder may provide clinical clue to the type of SCA. Objective: The objective of this study is to evaluate various movement disorders in patients of genetically proven SCAs and to establish a probable clinico-genetic correlation. Methods: Ninety-Five patients of genetically proven SCAs were assessed for the presence of various movement disorders...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#19
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29715545/multiple-system-atrophy-and-cag-repeat-length-a-genetic-screening-of-polyglutamine-disease-genes-in-italian-patients
#20
Alessia Mongelli, Lidia Sarro, Elena Rizzo, Lorenzo Nanetti, Nicoletta Meucci, Gianni Pezzoli, Stefano Goldwurm, Franco Taroni, Caterina Mariotti, Cinzia Gellera
Multiple system atrophy (MSA) is an adult onset, progressive, neurodegenerative disorder of unknown etiology characterized by autonomic dysfunction, parkinsonism (MSA-P) and cerebellar ataxia (MSA-C). The phenotypic spectrum may present overlapping features with other neurodegenerative diseases, particularly the autosomal dominant inherited polyglutamine disorders. To investigate the possible contribution of CAG expansions in the MSA phenotype, we analyzed the triplet repeat length in the autosomal dominant causative genes for spinocerebellar ataxia (SCA) type 1, 2, 3, 6, 7, 17, dentatorubral-pallidoluysian atrophy (DRPLA) and Huntington disease (HD) in a cohort of 246 Italian MSA patients...
April 28, 2018: Neuroscience Letters
keyword
keyword
36062
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"