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https://www.readbyqxmd.com/read/29624773/sleep-disorders-in-spinocerebellar-ataxia-type-10
#1
Ester London, Carlos H F Camargo, Alessandra Zanatta, Ana C Crippa, Salmo Raskin, Renato P Munhoz, Tetsuo Ashizawa, Hélio A G Teive
As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life. To our knowledge, there are no studies that investigate sleep disturbances in SCA10. Therefore, the aim of this study was to assess sleep disturbances in patients with SCA10. Twenty-three SCA10 patients and 23 healthy controls were recruited...
April 6, 2018: Journal of Sleep Research
https://www.readbyqxmd.com/read/29575033/neurochemical-abnormalities-in-premanifest-and-early-spinocerebellar-ataxias
#2
James M Joers, Dinesh K Deelchand, Tianmeng Lyu, Uzay E Emir, Diane Hutter, Christopher M Gomez, Khalaf O Bushara, Lynn E Eberly, Gülin Öz
OBJECTIVE: To investigate whether early neurochemical abnormalities are detectable by high field magnetic resonance spectroscopy (MRS) in individuals with spinocerebellar ataxias (SCAs) 1, 2, 3 and 6, including patients without manifestation of ataxia. METHODS: A cohort of 100 subjects (N=18-21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia (SARA) <10 for all genotypes, and 22 matched controls) was scanned at 7 tesla to obtain neurochemical profiles of the cerebellum and brainstem...
March 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29553382/survival-in-patients-with-spinocerebellar-ataxia-types-1-2-3-and-6-eurosca-a-longitudinal-cohort-study
#3
Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Durr, Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobanska, Anna Sulek, Tanja Schmitz-Hübsch, Ludger Schöls, Holger Hengel, Bela Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Massimo Pandolfo, Jörg B Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Thomas Klockgether, Sophie Tezenas du Montcel
BACKGROUND: Spinocerebellar ataxias are dominantly inherited progressive ataxia disorders that can lead to premature death. We aimed to study the overall survival of patients with the most common spinocerebellar ataxias (SCA1, SCA2, SCA3, and SCA6) and to identify the strongest contributing predictors that affect survival. METHODS: In this longitudinal cohort study (EUROSCA), we enrolled men and women, aged 18 years or older, from 17 ataxia referral centres in ten European countries; participants had positive genetic test results for SCA1, SCA2, SCA3, or SCA6 and progressive, otherwise unexplained, ataxias...
April 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29476441/association-between-body-mass-index-and-disease-severity-in-chinese-spinocerebellar-ataxia-type-3-patients
#4
Jin-Shan Yang, Ping-Ping Chen, Min-Ting Lin, Mei-Zhen Qian, Hui-Xia Lin, Xiao-Ping Chen, Xian-Jin Shang, Dan-Ni Wang, Yu-Chao Chen, Bin Jiang, Yi-Jun Chen, Ning Wang, Wan-Jin Chen, Shi-Rui Gan
Spinocerebellar ataxia type 3 (SCA3), the most common subtype of SCA worldwide, is caused by mutation of CAG repeats expansion in ATXN3. Body mass index (BMI) is an important modulatory factor in the progression of neurodegenerative disorders such as Huntington disease and amyotrophic lateral sclerosis. However, its relevance in SCA3 is not well understood. In this study, BMI was investigated in 134 molecularly confirmed SCA3 patients and 136 healthy controls from China. The multivariable linear regression models were performed to establish the putative risk factors for BMI, and whether BMI could affect the severity of ataxia...
February 23, 2018: Cerebellum
https://www.readbyqxmd.com/read/29476013/karyopherin-%C3%AE-3-is-a-key-protein-in-the-pathogenesis-of-spinocerebellar-ataxia-type-3-controlling-the-nuclear-localization-of-ataxin-3
#5
Anna Sergeevna Sowa, Elodie Martin, Inês Morgado Martins, Jana Schmidt, Reinhard Depping, Jonasz Jeremiasz Weber, Franziska Rother, Enno Hartmann, Michael Bader, Olaf Riess, Hervé Tricoire, Thorsten Schmidt
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a CAG expansion in the ATXN3 gene leading to a polyglutamine expansion in the ataxin-3 protein. The nuclear presence and aggregation of expanded ataxin-3 are critical steps in disease pathogenesis. To identify novel therapeutic targets, we investigated the nucleocytoplasmic transport system by screening a collection of importins and exportins that potentially modulate this nuclear localization. Using cell, Drosophila , and mouse models, we focused on three transport proteins, namely, CRM1, IPO13, KPNA3, and their respective Drosophila orthologs Emb, Cdm, and Kap-α3...
February 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29458753/challenges-in-sleep-stage-r-scoring-in-patients-with-autosomal-dominant-spinocerebellar-ataxias-sca1-sca2-and-sca3-and-oculomotor-abnormalities-a-whole-night-polysomnographic-evaluation
#6
Doniparthi Venkata Seshagiri, Arun Sasidharan, Gulshan Kumar, Pramod Kumar Pal, Sanjeev Jain, Bindu M Kutty, Ravi Yadav
OBJECTIVES: Spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. Oculomotor abnormality is one of the most frequent manifestations. This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring. METHODS: The study was carried out using 36 genetically positive SCA patients...
February 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29444500/generation-of-induced-pluripotent-stem-cell-line-zzui004-a-from-urine-sample-of-a-patient-with-spinocerebellar-ataxia-type-3
#7
Yanlin Wang, Changhe Shi, Zhilei Wang, Huifang Sun, Zhihua Yang, Fan Zhang, Yutao Liu, Han Liu, Chenyang Jiang, Shoutao Zhang, Yuming Xu, Xuejun Wen
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of the ATXN3 gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech. Urine cells (UCs) of a SCA3 patient were successfully translated to induced pluripotent stem cells (iPSCs) by using the Sendai virus delivery system. ZZUi004-A cell line may provide a robust platform for further study of SCA3 pathogenesis as well as drug testing and gene therapy research...
April 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29427114/pharmacological-therapies-for-machado-joseph-disease
#8
Sara Duarte-Silva, Patrícia Maciel
Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia type 3 (SCA3), is the most common autosomal dominant ataxia worldwide. MJD integrates a large group of disorders known as polyglutamine diseases (polyQ). To date, no effective treatment exists for MJD and other polyQ diseases. Nevertheless, researchers are making efforts to find treatment possibilities that modify the disease course or alleviate disease symptoms. Since neuroimaging studies in mutation carrying individuals suggest that in nervous system dysfunction begins many years before the onset of any detectable symptoms, the development of therapeutic interventions becomes of great importance, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427113/molecular-mechanisms-and-cellular-pathways-implicated-in-machado-joseph-disease-pathogenesis
#9
Clévio Nóbrega, Ana Teresa Simões, Joana Duarte-Neves, Sónia Duarte, Ana Vasconcelos-Ferreira, Janete Cunha-Santos, Dina Pereira, Magda Santana, Cláudia Cavadas, Luís Pereira de Almeida
Machado-Joseph disease (MJD) is a dominantly inherited disorder originally described in people of Portuguese descent, and associated with the expansion of a CAG tract in the coding region of the causative gene MJD1/ATX3. The CAG repeats range from 10 to 51 in the normal population and from 55 to 87 in SCA3/MJD patients. MJD1 encodes ataxin-3, a protein whose physiological function has been linked to ubiquitin-mediated proteolysis. Despite the identification of the causative mutation, the pathogenic process leading to the neurodegeneration observed in the disease is not yet completely understood...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427112/planning-future-clinical-trials-for-machado-joseph-disease
#10
Jonas Alex Morales Saute, Laura Bannach Jardim
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG repeat expansion at ATXN3 gene. Only a few treatments were evaluated in randomized clinical trials (RCT) in SCA3/MJD patients, with a lack of evidence for both disease-modifying and symptomatic therapies. The present chapter discuss in detail major methodological issues for planning future RCT for SCA3/MJD. There are several potential therapies for SCA3/MJD with encouraging preclinical results...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427111/towards-the-identification-of-molecular-biomarkers-of-spinocerebellar-ataxia-type-3-sca3-machado-joseph-disease-mjd
#11
Manuela Lima, Mafalda Raposo
Whereas spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) remains an untreatable disorder, disease-modifying compounds have begun being tested in the context of clinical trials; their success is dependent on the sensitivity of the methods used to measure subtle therapeutic benefits. Thus, efforts are being made to propose a battery of potential outcome measures, including molecular biomarkers (MBs), which remain to be identified; MBs are particularly pertinent if SCA3 trials are expected to enroll preataxic subjects...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29422848/mri-signal-abnormalities-of-the-inferior-olivary-nuclei-in-spinocerebellar-ataxia-type-2
#12
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias...
September 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/29318784/divalproex-sodium-modulates-nuclear-localization-of-ataxin-3-and-prevents-cellular-toxicity-caused-by-expanded-ataxin-3
#13
Zi-Jian Wang, Aoife Hanet, Daniel Weishäupl, Inês M Martins, Anna S Sowa, Olaf Riess, Thorsten Schmidt
BACKGROUND & AIMS: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin-3 protein. Nuclear localization of the affected protein is a key event in the pathology of SCA3 via affecting nuclear organization, transcriptional dysfunction, and seeding aggregations, finally causing neurodegeneration and cell death...
January 9, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29279305/friedreich-and-dominant-ataxias-quantitative-differences-in-cerebellar-dysfunction-measurements
#14
Audrey Tanguy Melac, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa, Sylvia Boesch, Thomas Klopstock, Jennifer Müller Vom Hagen, Thomas Klockgether, Katrin Bürk, Jörg B Schulz, Kathrin Reetz, Massimo Pandolfo, Alexandra Durr, Sophie Tezenas du Montcel
BACKGROUND: Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction. METHODS: We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained...
December 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29251109/human-olfactory-ensheathing-cell-transplantation-improves-motor-function-in-a-mouse-model-of-type-3-spinocerebellar-ataxia
#15
Jeanne Hsieh, Jen-Wei Liu, Horng-Jyh Harn, Kuo-Wei Hsueh, Karthyayani Rajamani, Yu-Chen Deng, Chih-Min Chia, Woei-Cheang Shyu, Shinn-Zong Lin, Tzyy-Wen Chiou
Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that affects the cerebellum and spinal cord. Among the 40 types of SCA, SCA type 3 (SCA3), also referred to as Machado-Joseph disease, is the most common. In the present study, we investigated the therapeutic effects of intracranial transplantation of human olfactory ensheathing cells (hOECs) in the ATXN3-84Q mouse model of SCA3. Motor function begins to decline in ATXN3-84Q transgenic mice at approximately 13 weeks of age. ATXN3-84Q mice that received intracranial hOEC transplantation into the dorsal raphe nucleus of the brain exhibited significant improvements in motor function, as measured by the rotarod performance test and footprint pattern analysis...
October 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29247688/caffeic-acid-and-resveratrol-ameliorate-cellular-damage-in-cell-and-drosophila-models-of-spinocerebellar-ataxia-type-3-through-upregulation-of-nrf2-pathway
#16
Yu-Ling Wu, Jui-Chih Chang, Wei-Yong Lin, Chien-Chun Li, Mingli Hsieh, Haw-Wen Chen, Tsu-Shing Wang, Wen-Tzu Wu, Chin-San Liu, Kai-Li Liu
Polyglutamine (polyQ)-expanded mutant ataxin-3 protein, which is prone to misfolding and aggregation, leads to cerebellar neurotoxicity in spinocerebellar ataxia type 3 (SCA3), an inherited PolyQ neurodegenerative disease. Although the exact mechanism is unknown, the pathogenic effects of mutant ataxin-3 are associated with dysregulation of transcription, protein degradation, mitochondrial function, apoptosis, and antioxidant potency. In the present study we explored the protective role and possible mechanism of caffeic acid (CA) and resveratrol (Res) in cells and Drosophila expressing mutant ataxin-3...
February 1, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29241561/arabidopsis-mterf6-is-required-for-leaf-patterning
#17
Pedro Robles, Eva Núñez-Delegido, Almudena Ferrández-Ayela, Raquel Sarmiento-Mañús, José Luis Micol, Víctor Quesada
To enhance our understanding of the roles of mitochondrial transcription termination factors (mTERFs) in plants, we have taken a reverse genetic approach in Arabidopsis thaliana. One of the mutants isolated carried a novel allele of the mTERF6 gene, which we named mterf6-5. mTERF6 is a chloroplast and mitochondrial localised protein required for the maturation of chloroplast isoleucine tRNA. The mterf6-5 plants are pale and exhibit markedly reduced growth, and altered leaf and chloroplast development. Our qRT-PCR analyses revealed mis-expression of several plastid, mitochondrial and nuclear genes in mterf6-5 plants...
January 2018: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/29229556/experimental-and-clinical-strategies-for-treating-spinocerebellar-ataxia-type-3
#18
REVIEW
Zijian Wang
Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine (polyQ) tract in the ataxin-3 protein. To date, there is no effective therapy available to prevent progression of this disease. However, clinical strategies for alleviating various symptoms are imperative to promote a better quality of life for SCA3/MJD patients. Furthermore, experimental therapeutic strategies, including gene silencing or mutant protein clearance, mutant polyQ protein modification, stabilizing the native protein conformation, rescue of cellular dysfunction and neuromodulation to slow the progression of SCA3/MJD, have been developed...
February 10, 2018: Neuroscience
https://www.readbyqxmd.com/read/29214039/clinical-and-genetic-analysis-of-spinocerebellar-ataxia-type-7-sca7-in-zambian-families
#19
Masharip Atadzhanov, Danielle C Smith, Mwila H Mwaba, Omar K Siddiqi, Alan Bryer, L Jacquie Greenberg
Background: To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29111377/mass-spectrometry-analyses-of-normal-and-polyglutamine-expanded-ataxin-3-reveal-novel-interaction-partners-involved-in-mitochondrial-function
#20
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...
January 2018: Neurochemistry International
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