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About 2,825 results

ALLMedicine™ Spinocerebellar Ataxia Center

Research & Reviews  1,104 results

Clinical and genetic characterization of CACNA1A-related disease.
https://doi.org/10.1111/cge.14180
Clinical Genetics; Lipman AR, Fan X et. al.

Jun 21st, 2022 - Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. With increasing use of clinical genetic testing, associations have expanded to include developmen...

Cerebellar contribution to threat probability in a SCA6 mouse model.
https://doi.org/10.1093/hmg/ddac135
Human Molecular Genetics; Bohne P, Rybarski M et. al.

Jun 17th, 2022 - Fear and anxiety have proven to be essential during the evolutionary process. However, the mechanisms involved in recognizing and categorizing threat probability (i.e. low to high) to elicit the appropriate defensive behavior has yet to be determi...

Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ata...
https://doi.org/10.1242/dmm.049514
Disease Models & Mechanisms; Mayoral-Palarz K, Neves-Carvalho A et. al.

Jun 7th, 2022 - Spinocerebellar Ataxia Type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction. We exa...

ANO10 Function in Health and Disease.
https://doi.org/10.1007/s12311-022-01395-3 10.1212/WNL.0000000000004246 10.1038/nature13984 10.1038/nature25024 10.1085/jgp.201711957 10.1146/annurev.physiol.67.032003.154341 10.1016/j.gep.2008.11.002 10.1002/dvdy.21676 10.1038/aps.2011.48 10.1152/physrev.00039.2011 10.3390/ijms21114065 10.1074/jbc.M109.065367 10.1073/pnas.1822025116 10.1038/ncb944 10.1016/j.cellsig.2016.11.006 10.1016/j.ajhg.2010.10.015 10.1007/s00415-014-7476-7 10.1093/nar/gkx1153 10.2119/molmed.2014.00219 10.1007/s00424-016-1898-2 10.1113/jphysiol.2010.189506 10.1007/s00424-013-1428-4 10.1096/fj.13-243436 10.1007/s00424-014-1559-2 10.1074/jbc.C109.000869 10.1002/jcp.24230 10.1021/acs.biochem.6b00176 10.1096/fj.201600797RR 10.1001/jamaneurol.2014.193 10.1080/13554794.2019.1655064 10.1159/000445109 10.1093/brain/aww079 10.1186/1750-1172-8-173 10.1007/s00415-011-6276-6 10.1002/mds.26816 10.1007/s12311-020-01180-0 10.1002/mdc3.12396 10.1016/j.celrep.2020.108570 10.1007/s00415-018-9141-z 10.1111/cge.12140 10.1038/jhg.2014.75 10.3988/jcn.2020.16.2.333 10.1016/j.parkreldis.2020.08.040 10.1007/s10528-020-09952-3 10.1038/mp.2017.5 10.1002/cam4.2909 10.1093/neuonc/noz088 10.1016/j.ygeno.2020.12.028 10.1172/JCI200420216 10.1007/s12311-010-0182-9 10.1001/jamaneurol.2017.5121 10.1038/s41436-018-0007-7 10.1007/s12311-018-0969-7 10.1001/jamaneurol.2014.3918 10.1001/jamaneurol.2014.1944
Cerebellum (London, England); Chrysanthou A, Ververis A et. al.

Jun 2nd, 2022 - Anoctamin 10 (ANO10), also known as TMEM16K, is a transmembrane protein and member of the anoctamin family characterized by functional duality. Anoctamins manifest ion channel and phospholipid scrambling activities and are involved in many physiol...

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Clinicaltrials.gov  16 results

Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia
https://clinicaltrials.gov/ct2/show/NCT03378414

May 9th, 2022 - This is a random, open label, and parallel controled experiment. 45 patients are selected and sign consent forms, then divided into three groups. Doctors collect the basic information of patient (including age,height, mental condition, vital sign,...

Trial in Adult Subjects With Spinocerebellar Ataxia
https://clinicaltrials.gov/ct2/show/NCT02960893

Apr 28th, 2022 - The study was conducted in 2 phases: Randomization Phase (8 weeks) followed by an open-label Extension Phase (48 weeks). During the Randomization Phase, participants received either Troriluzole 140 mg or matching placebo up to 8 weeks. Participant...

Identification of Biomarkers in Spinocerebellar Ataxia 3
https://clinicaltrials.gov/ct2/show/NCT03885167

Feb 11th, 2022 - Participants will undergo a SARA exam, a lumbar puncture and a blood draw. A lumbar puncture is a procedure in which a small amount of the spinal fluid that surrounds the brain and spinal cord is removed by inserting a needle in the lower back. Pa...

Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
https://clinicaltrials.gov/ct2/show/NCT04529252

Oct 14th, 2021 - The investigators are initiating a new program dedicated to the research and study of neurodegenerative forms of spinocerebellar ataxia as well and other nucleotide repeat diseases with the exclusion of Huntington's Disease. The analysis will be c...

Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL)
https://clinicaltrials.gov/ct2/show/NCT03347344

Jun 21st, 2021 - Inherited cerebellar ataxias are genetically heterogeneous neurological disorders. They are characterized by ataxic gait and cerebellar dysarthria that progresses over time with loss of ambulation and speech. The mutations by expansions of CAG tri...

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News  10 results

Biohaven's Drug for Neurological Disease Fails Late-Stage Study
https://www.medscape.com/viewarticle/974435

May 24th, 2022 - (Reuters) - Biohaven Pharmaceutical said on Monday its experimental drug for patients with spinocerebellar ataxia, a genetic disease that affects the nervous system, failed to meet the main goal of a late-stage study. Spinocerebellar ataxia (SCA) ...

Certifying Medical Cannabis: What APRNs Need to Know
https://www.medscape.com/viewarticle/943249

Jan 5th, 2021 - A patient asks an advanced practice registered nurse (APRN) to approve them for "medical marijuana." What are the clinician's responsibilities? The first hurdle is legal. In 18 states, an APRN has the legal authority to certify a patient to use ma...

Genetic Screens Yield Potential Therapies for Neurodegenerative Diseases
https://www.mdedge.com/neurology/article/156680/rare-diseases/genetic-screens-yield-potential-therapies-neurodegenerative

Feb 2nd, 2018 - SAN DIEGO—Cross-species genetic screens are helping researchers find molecules that modulate the proteins that cause adult neurodegenerative disease, according to a lecture delivered at the 142nd Annual Meeting of the American Neurological Associa.

Neurologists Review the Data on Treatments for Spinocerebellar Ataxias
https://www.mdedge.com/neurology/article/141127/movement-disorders/neurologists-review-data-treatments-spinocerebellar

Jun 23rd, 2017 - MIAMI—Advances in genetic testing have enabled precise identification of many spinocerebellar ataxias, but no pharmacologic therapy for the disorders has been approved, according to an overview presented at the First Pan American Parkinson’s Disea.

Treatments Mitigate Certain Cases of Cerebellar Ataxia
https://www.mdedge.com/neurology/article/99267/movement-disorders/treatments-mitigate-certain-cases-cerebellar-ataxia

Apr 29th, 2015 - Most cerebellar ataxias cannot be cured, but cases that result from metabolic, hereditary, inflammatory, and immune-mediated etiologies can be treated with disease-modifying therapies, according to a review article published online ahead of print.

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