keyword
https://read.qxmd.com/read/38423193/blood-and-cerebellar-abundance-of-atxn3-splice-variants-in-spinocerebellar-ataxia-type-3-machado-joseph-disease
#21
JOURNAL ARTICLE
Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M Santana, Luis Pereira de Almeida, Jon Infante, Bart P van de Warrenburg, Jeroen J de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, Olaf Riess, Maria do Carmo Costa, Manuela Lima
Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, undergoes alternative splicing. Ataxin-3 protein isoforms differ in their toxicity, suggesting that certain ATXN3 splice variants may be crucial in driving the selective toxicity in SCA3. Using RNA-seq datasets we identified and determined the abundance of annotated ATXN3 transcripts in blood (n = 60) and cerebellum (n = 12) of SCA3 subjects and controls...
February 27, 2024: Neurobiology of Disease
https://read.qxmd.com/read/38421662/atxn7-related-cone-rod-dystrophy-the-integrated-functional-evaluation-of-the-cerebellum-cermoi-study
#22
JOURNAL ARTICLE
Marco Nassisi, Giulia Coarelli, Benoit Blanchard, Charlotte Dubec-Fleury, Karima Drine, Nicolas Kitic, Serge Sancho, Rania Hilab, Sophie Tezenas du Montcel, Candice Junge, Roger Lane, H Moore Arnold, Alexandra Durr, Isabelle Audo
IMPORTANCE: Reliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. OBJECTIVE: To identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers. DESIGN, SETTING, AND PARTICIPANTS: This article presents baseline data from a cross-sectional natural history study conducted in Paris, France, reference centers for rare diseases from May 2020 to April 2021...
February 29, 2024: JAMA Ophthalmology
https://read.qxmd.com/read/38421660/retinal-end-points-for-atxn7-related-spinocerebellar-ataxia
#23
JOURNAL ARTICLE
Jacque L Duncan
No abstract text is available yet for this article.
February 29, 2024: JAMA Ophthalmology
https://read.qxmd.com/read/38419591/novel-heterozygous-prph2-variant-identified-in-a-patient-with-spinocerebellar-ataxia-type-14-and-macular-dystrophy
#24
JOURNAL ARTICLE
Tugche S Chen, Narin Sheri, David S Ehmann, Matthew D Benson
PURPOSE: To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel PRPH2 variant. METHODS: Case report. RESULTS: A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy. She had no history of using medications with recognized toxic macular effects. Subsequent genetic testing confirmed a novel heterozygous missense variant of unknown significance in PRPH2 ( PRPH2 : c...
February 29, 2024: Ophthalmic Genetics
https://read.qxmd.com/read/38419568/fatigue-impacts-quality-of-life-in-people-with-spinocerebellar-ataxias
#25
JOURNAL ARTICLE
Ruo-Yah Lai, Christian Rummey, Christian J Amlang, Chi-Ying R Lin, Tiffany X Chen, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Sarah H Ying, Chiadi U Onyike, Theresa A Zesiewicz, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Matthew R Burns, Puneet Opal, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo
BACKGROUND: Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated. OBJECTIVES: To study the prevalence of fatigue in SCAs, the factors contributing to fatigue, and the influence of fatigue on quality of life. METHODS: Fatigue was assessed in 418 participants with SCA1, SCA2, SCA3, and SCA6 from the Clinical Research Consortium for the Study of Cerebellar Ataxia using the Fatigue Severity Scale...
February 29, 2024: Movement Disorders Clinical Practice
https://read.qxmd.com/read/38419473/tongue-protrusion-and-feeding-dystonia-can-develop-in-ppp2r2b-related-spinocerebellar-ataxia
#26
JOURNAL ARTICLE
Shermyn Neo, Francesca Magrinelli, Carla Cordivari, Kailash P Bhatia
No abstract text is available yet for this article.
February 28, 2024: Movement Disorders Clinical Practice
https://read.qxmd.com/read/38419144/digital-gait-measures-capture-1-year-progression-in-early-stage-spinocerebellar-ataxia-type-2
#27
JOURNAL ARTICLE
Jens Seemann, Lina Daghsen, Matthieu Cazier, Jean-Charles Lamy, Marie-Laure Welter, Martin A Giese, Matthis Synofzik, Alexandra Durr, Winfried Ilg, Giulia Coarelli
BACKGROUND: With disease-modifying drugs in reach for cerebellar ataxias, fine-grained digital health measures are highly warranted to complement clinical and patient-reported outcome measures in upcoming treatment trials and treatment monitoring. These measures need to demonstrate sensitivity to capture change, in particular in the early stages of the disease. OBJECTIVE: Our aim is to unravel gait measures sensitive to longitudinal change in the-particularly trial-relevant-early stage of spinocerebellar ataxia type 2 (SCA2)...
February 28, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38412102/probing-cerebellar-circuit-dysfunction-in-rodent-models-of-spinocerebellar-ataxia-by-means-of-in%C3%A2-vivo-two-photon-calcium-imaging
#28
JOURNAL ARTICLE
Christopher Douthwaite, Christoph Tietje, XiaoQian Ye, Sabine Liebscher
Purkinje neuron degeneration characterizes spinocerebellar ataxia type 1, yet the comprehension of the impact on the broader cerebellar circuit remains incomplete. We here detail simultaneous in vivo two-photon calcium imaging of diverse neuronal populations in the cerebellar cortex of Sca1 mice while they are navigating a virtual environment. We outline surgical procedures and protocols to chronically record from identical neurons, and we detail data post-processing and analysis to delineate disease-related alterations in neuronal activity and sensorimotor-driven response properties...
February 26, 2024: STAR protocols
https://read.qxmd.com/read/38404918/pharmacological-inhibition-of-acetylcholinesterase-improves-the-locomotion-defective-phenotype-of-a-sca3-c-elegans-model
#29
JOURNAL ARTICLE
Franziska Pohl, Victoria Lindsay-McGee, Paul Kong Thoo Lin, Patricia Maciel, Andreia Teixeira-Castro
Inhibition of acetylcholinesterase (AChE) is a common used treatment option for Alzheimer's disease. However, there has been limited research on the potential use of AChE inhibitors for the treatment of Machado-Joseph disease (MJD)/Spinocerebellar Ataxia 3 (SCA3), in spite of the positive results using AChE inhibitors in patients with other inherited ataxias. MJD/SCA3, the most common form of dominant Spinocerebellar Ataxia worldwide, is caused by an expansion of the polyglutamine tract within the ataxin-3 protein, and is characterized by motor impairments...
2024: microPublication. Biology
https://read.qxmd.com/read/38396270/correction-to-a-chinese-family-with-digenic-tbp-stub1-spinocerebellar-ataxia
#30
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
No abstract text is available yet for this article.
February 24, 2024: Cerebellum
https://read.qxmd.com/read/38396267/novel-genotype-phenotype-correlations-differential-cerebellar-allele-specific-methylation-and-a-common-origin-of-the-atttc-n-insertion-in-spinocerebellar-ataxia-type-37
#31
JOURNAL ARTICLE
Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueñas
Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peninsula with a pure cerebellar syndrome. SCA37 patients carry a pathogenic intronic (ATTTC)n repeat insertion flanked by two polymorphic (ATTTT)n repeats in the Disabled-1 (DAB1) gene leading to cerebellar dysregulation. Herein, we determine the precise configuration of the pathogenic 5'(ATTTT)n-(ATTTC)n-3'(ATTTT)n SCA37 alleles by CRISPR-Cas9 and long-read nanopore sequencing, reveal their epigenomic signatures in SCA37 lymphocytes, fibroblasts, and cerebellar samples, and establish new molecular and clinical correlations...
February 23, 2024: Human Genetics
https://read.qxmd.com/read/38393916/comparison-of-prognosis-and-cognitive-function-of-holistic-neurological-disease-tochigi-neurological-disease-cohort-study
#32
JOURNAL ARTICLE
Kosuke Matsuzono, Takafumi Mashiko, Reiji Koide, Hiroaki Yoshizumi, Shigeru Fujimoto
BACKGROUND: While many studies focus on the prognosis of individual neurological diseases, very few comprehensively compare and analyze real-world data of these diseases. OBJECTIVE: To address this gap in knowledge, in this study, we comprehensively analyzed the real-life data of patients with neurological diseases. METHODS: We prospectively enrolled patients with neurological diseases at three hospitals from December 1, 2016 to September 30, 2020...
February 19, 2024: Journal of Alzheimer's Disease: JAD
https://read.qxmd.com/read/38383154/genotype-specific-spinal-cord-damage-in-spinocerebellar-ataxias-an-enigma-ataxia-study
#33
JOURNAL ARTICLE
Thiago Junqueira Ribeiro Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Leo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto R M Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes C França, Ian H Harding
BACKGROUND: Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset. METHODS: Upper spinal cord (vertebrae C1-C4) cross-sectional area (CSA) and eccentricity (flattening) were assessed using MRI data from nine sites within the ENIGMA-Ataxia consortium, including 364 people with ataxic SCA, 56 individuals with preataxic SCA and 394 nonataxic controls...
February 21, 2024: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/38382935/-recent-clinical-advances-in-hereditary-spinocerebellar-degeneration
#34
JOURNAL ARTICLE
Ichiro Yabe
Spinocerebellar degeneration (SCD) is a neurodegenerative disorder characterized by cerebellar ataxia and other multisystem manifestations, such as Parkinsonism and pyramidal tract symptoms. No effective treatment is available for SCD. Approximately one-third of the cases of SCD are inherited, and the remaining two-third are sporadic, including multiple system atrophy. This article provides an overview of hereditary SCD, its clinical features, recent treatment advances, biomarkers, role of genomic medicine, and future treatment prospects...
February 22, 2024: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/38376240/compressed-cerebellar-functional-connectome-hierarchy-in-spinocerebellar-ataxia-type-3
#35
JOURNAL ARTICLE
Xinyuan Liu, Jing Guo, Zhouyu Jiang, Xingli Liu, Hui Chen, Yuhan Zhang, Jian Wang, Chen Liu, Qing Gao, Huafu Chen
Spinocerebellar ataxia type 3 (SCA3) is an inherited movement disorder characterized by a progressive decline in motor coordination. Despite the extensive functional connectivity (FC) alterations reported in previous SCA3 studies in the cerebellum and cerebellar-cerebral pathways, the influence of these FC disturbances on the hierarchical organization of cerebellar functional regions remains unclear. Here, we compared 35 SCA3 patients with 48 age- and sex-matched healthy controls using a combination of voxel-based morphometry and resting-state functional magnetic resonance imaging to investigate whether cerebellar hierarchical organization is altered in SCA3...
February 15, 2024: Human Brain Mapping
https://read.qxmd.com/read/38363498/cerebellar-volumetry-in-ataxias-relation-to-ataxia-severity-and-duration
#36
JOURNAL ARTICLE
Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Faber
Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system atrophy of cerebellar type (MSA-C). Our cross-sectional data set comprised mutation carriers of SCA1 (N=12), SCA3 (N=62), SCA6 (N=14), as well as MSA-C patients (N=16). Cerebellar volumes were obtained from T1-weighted magnetic resonance images...
February 16, 2024: Cerebellum
https://read.qxmd.com/read/38357985/digital-measures-of-postural-sway-quantify-balance-deficits-in-spinocerebellar-ataxia
#37
JOURNAL ARTICLE
Vrutangkumar V Shah, Daniel Muzyka, Adam Jagodinsky, James McNames, Hannah Casey, Mahmoud El-Gohary, Kristen Sowalsky, Delaram Safarpour, Patricia Carlson-Kuhta, Jeremy D Schmahmann, Liana S Rosenthal, Susan Perlman, Fay B Horak, Christopher M Gomez
BACKGROUND: Maintaining balance is crucial for independence and quality of life. Loss of balance is a hallmark of spinocerebellar ataxia (SCA). OBJECTIVE: The aim of this study was to identify which standing balance conditions and digital measures of body sway were most discriminative, reliable, and valid for quantifying balance in SCA. METHODS: Fifty-three people with SCA (13 SCA1, 13 SCA2, 14 SCA3, and 13 SCA6) and Scale for Assessment and Rating of Ataxia (SARA) scores 9...
February 15, 2024: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/38348223/oxidative-stress-and-ion-channels-in-neurodegenerative-diseases
#38
REVIEW
Razan Orfali, Adnan Z Alwatban, Rawan S Orfali, Liz Lau, Noble Chea, Abdullah M Alotaibi, Young-Woo Nam, Miao Zhang
Numerous neurodegenerative diseases result from altered ion channel function and mutations. The intracellular redox status can significantly alter the gating characteristics of ion channels. Abundant neurodegenerative diseases associated with oxidative stress have been documented, including Parkinson's, Alzheimer's, spinocerebellar ataxia, amyotrophic lateral sclerosis, and Huntington's disease. Reactive oxygen and nitrogen species compounds trigger posttranslational alterations that target specific sites within the subunits responsible for channel assembly...
2024: Frontiers in Physiology
https://read.qxmd.com/read/38347269/serum-s100%C3%AE-levels-are-linked-with-cognitive-decline-and-peripheral-inflammation-in-spinocerebellar-ataxia-type-2
#39
JOURNAL ARTICLE
Yaimeé Vázquez-Mojena, Roberto Rodríguez-Labrada, Yanetsy Córdova-Rodríguez, Yennis Domínguez-Barrios, Mario E Fernández-Herrera, Karen León-Arcia, Nancy Pavón-Fuentes, Maria de Los Angeles Robinson-Agramonte, Luis Velázquez-Pérez
Experimental and clinical studies have indicated a potential role of the protein S100β in the pathogenesis and phenotype of neurodegenerative diseases. However, its impact on spinocerebellar ataxia type 2 (SCA2) remains to be elucidated. The objective of the study is to determine the serum levels of S100β in SCA2 and its relationship with molecular, clinical, cognitive, and peripheral inflammatory markers of the disease. Serum concentrations of S100β were measured by enzyme-linked immunosorbent assay in 39 SCA2 subjects and 36 age- and gender-matched controls...
February 12, 2024: Cerebellum
https://read.qxmd.com/read/38342844/a-chinese-family-with-digenic-tbp-stub1-spinocerebellar-ataxia
#40
JOURNAL ARTICLE
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical manifestations of SCATBP/STUB1 include not only ataxia but also obvious cognitive and behavioral impairment. Here, we describe a Chinese family with SCATBP/STUB1 and performed a literature search for similar cases. We identified a Chinese family with SCATBP/STUB1 and compare our clinical findings with other cases described in the literature so far...
February 12, 2024: Cerebellum
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