Neuropsychological, neurocognitive, vestibular, and neuroimaging correlates of exposure to repetitive low-level blast waves: evidence from four nonoverlapping samples of Canadian breachers - Vartanian O, Coady L, Blackler K, Fraser B, Cheung B.
INTRODUCTION: We assessed the utility of a battery of neuropsychological, neurocognitive, physiological (balance, ataxia, postural tremor), and neuroimaging measures for studying the effects of blast waves in breachers-a population repeatedly exposed to lo... (Source: SafetyLit)
Source: SafetyLit - November 5, 2020 Category: International Medicine & Public Health Tags: Burns, Electricity, Explosions, Fire, Scalds Source Type: news

The effects of dual task cognitive interference and fast-paced walking on gait, turns, and falls in men and women with FXTAS - O'Keefe JA, Guan J, Robertson E, Biskis A, Joyce J, Ouyang B, Liu Y, Carnes D, Purcell N, Berry-Kravis E, Hall DA.
We examined the impact of dual-task (DT) cognitive-motor interference and fast-paced (FP) gai... (Source: SafetyLit)
Source: SafetyLit - November 2, 2020 Category: International Medicine & Public Health Tags: Distraction, Fatigue, Chronobiology, Vigilance, Workload Source Type: news

Mayo Clinic: diagnostic, therapeutic advance for rare neurodegenerative disorder
(Mayo Clinic) Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3) ? a disease that has no cure. They also have clarified the role of a gene target associated with the disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 21, 2020 Category: International Medicine & Public Health Source Type: news

Toxin-induced cerebellar disorders - Dolbec K, Dobbs MR, Ibraheem M.
The cerebellum plays an important role in motor and nonmotor systems, with damage resulting in clinical manifestations presenting as weakness, ataxia, dysarthria, and nystagmus. There are numerous environmental and industrial agents as well as medications ... (Source: SafetyLit)
Source: SafetyLit - October 14, 2020 Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news

BioShin, Biohaven's Asia-Pacific Subsidiary, Raises $60M in Series A Funding to Advance Neuroscience Pipeline in Asia-Pacific Region
Initiating NURTEC ODT Phase 3 study for acute migraine in China and Korea, and China registrational study of troriluzole in Spinocerebellar Ataxia in 4Q20 Named Donnie McGrath as BioShin President and Executive Chairman, and Karl Lintel as BioShin Chief... Biopharmaceuticals, Personnel, Venture Capital Biohaven Pharmaceutical Holding Company, BioShin , NURTEC ODT (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - September 28, 2020 Category: Pharmaceuticals Source Type: news

Unintentional overdose of hyoscine hydrobromide in a young child - Xuereb G, Calleja T, Borg J, Pace D.
A 4-year-old girl presented with confusion, ataxia and hallucinations 3 hours after an accidental overdose of 108 μg per kg of hyoscine hydrobromide (Kwells Kids). She was hypotensive and tachycardic at presentation. Investigations revealed QTc prolongati... (Source: SafetyLit)
Source: SafetyLit - September 18, 2020 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Artificial intelligence and fractal dimension for monitoring ataxia
(Universit à di Bologna) A new Unibo-led project won the Spring Seed Grant by Telethon Foundation. Researchers will work to develop innovative techniques and cutting-edge computational approaches to fight rare and extremely debilitating diseases such as Friedreich's and spinocerebellar ataxia. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 18, 2020 Category: International Medicine & Public Health Source Type: news

Gene therapy corrects the cardiac effects of Friedreich's ataxia
(Mary Ann Liebert, Inc./Genetic Engineering News) Gene therapy was successfully used to overcome the cardiac effects of Freidreich's ataxia (FA) in a mouse model of the disease (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 18, 2020 Category: International Medicine & Public Health Source Type: news

New molecule to repair and restore brain and spinal cord function
A molecule created by researchers can restore lost connections in the spinal cord and brain of mice with neurological disorders including cerebellar ataxia, Alzheimer’s disease and spinal cord injury. (Source: Medical Research Council General News)
Source: Medical Research Council General News - August 27, 2020 Category: Research Source Type: news

A synthetic synaptic organizer protein restores glutamatergic neuronal circuits
Neuronal synapses undergo structural and functional changes throughout life, which are essential for nervous system physiology. However, these changes may also perturb the excitatory–inhibitory neurotransmission balance and trigger neuropsychiatric and neurological disorders. Molecular tools to restore this balance are highly desirable. Here, we designed and characterized CPTX, a synthetic synaptic organizer combining structural elements from cerebellin-1 and neuronal pentraxin-1. CPTX can interact with presynaptic neurexins and postsynaptic AMPA-type ionotropic glutamate receptors and induced the formation of excita...
Source: ScienceNOW - August 26, 2020 Category: Science Authors: Suzuki, K., Elegheert, J., Song, I., Sasakura, H., Senkov, O., Matsuda, K., Kakegawa, W., Clayton, A. J., Chang, V. T., Ferrer-Ferrer, M., Miura, E., Kaushik, R., Ikeno, M., Morioka, Y., Takeuchi, Y., Shimada, T., Otsuka, S., Stoyanov, S., Watanabe, M., T Tags: Biochemistry, Neuroscience, Online Only r-articles Source Type: news

Biotech Vico Therapeutics raises $31 million (€27 million) in Series A financing round to advance therapies for rare central nervous system diseases
AON-platform with focus on therapies nearing phase I trials for forms of Spinocerebellar Ataxia and Huntington Disease Other early discovery stage RNA editing platform focuses on RETT syndrome Funding led by LSP, co-led by Kurma Partners, supported b... Biopharmaceuticals, Neurology, Venture Capital Vico Therapeutics, RNA modulating therapies (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - July 29, 2020 Category: Pharmaceuticals Source Type: news

Exercise offers 'profound' benefits for Friedreich's ataxia, research suggests
(University of Virginia Health System) Well-timed exercise programs may slow the progression of Friedreich's ataxia, which robs patients of their ability to walk, new research suggests. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - June 16, 2020 Category: International Medicine & Public Health Source Type: news

A natural amino acid could be a novel treatment for polyglutamine diseases
(Osaka University) Researchers from Osaka University, National Center of Neurology and Psychiatry, and Niigata University identified the amino acid arginine as a potential disease-modifying drug for polyglutamine diseases, including familial spinocerebellar ataxia and Huntington disease. Using various mice models of polyglutamine diseases, they showed that arginine prevents polyglutamine protein aggregation, improves motor function and suppresses neurodegeneration of mice. The results of this study could facilitate the clinical use of arginine for polyglutamine diseases that are, to date, incurable. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - May 25, 2020 Category: Biology Source Type: news

Genetic doppelgaengers: Emory research provides insight into two neurological puzzles
(Emory Health Sciences) Insight into the pathological mechanisms behind two devastating neurodegenerative diseases: the most common inherited form of amyotrophic lateral sclerosis/ frontotemporal dementia (ALS/FTD) and spinocerebellar ataxia type 36 (SCA36). Expanded repeats lead to peptide gobbledygook in both, but with critical differences. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 5, 2020 Category: International Medicine & Public Health Source Type: news

Pediatric perampanel poisoning - Qozi M, Cantrell FL.
Highlights • 0.77 mg/kg perampanel caused drowsiness, ataxia and bradycardia in a child. • 0.25 mg/kg perampanel caused quick onset ataxia in a child that resolved in 6 h. • Pediatric perampanel exposures can resemble benzodiazapine exposure... (Source: SafetyLit)
Source: SafetyLit - May 4, 2020 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Some COVID Patients Develop Guillain-Barre
The symptoms of the disorder "include weakness, areflexia [absence of reflexes], paresthesia [tingling], and in some cases facial weakness and ataxia [poor balance]," Geraci said. (Source: WebMD Health)
Source: WebMD Health - April 21, 2020 Category: Consumer Health News Source Type: news

Progressive ataxia and falls in a 62 year old woman - Jedidi Z, Bianchi E, Moonen V, Jedidi H, Serre CH, Maquet P, Moonen G.
We discuss the diagnostic workup of a 62 year old woman without any significant past medical history. We take this opportunity to point out three aspects : 1. The necessary contextualization of the whole process allowing to avoid unrealistic differentials;... (Source: SafetyLit)
Source: SafetyLit - March 16, 2020 Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news

Friedreich's Ataxia Syndrome
Title: Friedreich's Ataxia SyndromeCategory: Diseases and ConditionsCreated: 2/25/2020 12:00:00 AMLast Editorial Review: 2/25/2020 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - February 25, 2020 Category: Pediatrics Source Type: news

Visual impairment following a suicide attempt with a crossbow - Feenstra FA, Aggenbach L, Rijtema G, Buunk AM, Stirler VMA.
BACKGROUND: B álint's syndrome is characterized by the triad of ocular apraxia, dorsal simultanagnosia and optic ataxia. It most commonly occurs following bilateral parieto-occipital brain injury, for which several aetiologies have been described. CASE DES... (Source: SafetyLit)
Source: SafetyLit - February 24, 2020 Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news

Exploring risk of falls and dynamic unbalance in cerebellar ataxia by inertial sensor assessment - Caliandro P, Conte C, Iacovelli C, Tatarelli A, Castiglia SF, Reale G, Serrao M.
BACKGROUND: Patients suffering from cerebellar ataxia have extremely variable gait kinematic features. We investigated whether and how wearable inertial sensors can describe the gait kinematic features among ataxic patients. METHODS: We enrolled 17... (Source: SafetyLit)
Source: SafetyLit - December 23, 2019 Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news

Suicide screening: how to recognize and treat at-risk adults - Williamson MLC, Hogue G, Cotter J, Roberman S, Neal G, Williamson B.
Worsening nausea, vomiting, and dizziness for 2-months, resulting in a 20-pound weight loss. Pruritus. Ataxia. Mild hearing loss, with reoccurring episodes of falls. Language: en... (Source: SafetyLit)
Source: SafetyLit - November 19, 2019 Category: International Medicine & Public Health Tags: Risk Factor Prevalence, Injury Occurrence Source Type: news

Medical News Today: Acute cerebellar ataxia: Everything you need to know
Acute cerebellar ataxia is a disorder in children that causes a loss of coordination and movement control. Learn about the causes and treatments in this article. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - October 31, 2019 Category: Consumer Health News Tags: Pediatrics / Children's Health Source Type: news

Tissue-Engineered Human Models of Cardiac Disease: A Case Study of...
Friedreich’s ataxia (FRDA) is an autosomal recessive disease that affects mainly the peripheral and central nervous systems, and heart. Currently, there are few effective treatments to manage...(PRWeb October 17, 2019)Read the full story at https://www.prweb.com/releases/tissue_engineered_human_models_of_cardiac_disease_a_case_study_of_friedreichs_ataxia_frda_upcoming_webinar_hosted_by_xtalks/prweb16653222.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - October 17, 2019 Category: Pharmaceuticals Source Type: news

Scientists Designed a Drug for Just One Patient. Her Name Is Mila.
An achievement in ultra-personalized medicine also raises questions about fairness and regulation. (Source: NYT Health)
Source: NYT Health - October 10, 2019 Category: Consumer Health News Authors: Gina Kolata Tags: Drugs (Pharmaceuticals) Genetics and Heredity Disabilities Ataxia-Telangiectasia (Genetic Disease) Medicine and Health Children and Childhood Boston Children ' s Hospital Food and Drug Administration New England Journal of Medicine B Source Type: news

TP53, ATM Comutation Might Help Guide Lung-Cancer Immunotherapy TP53, ATM Comutation Might Help Guide Lung-Cancer Immunotherapy
In patients with non-small-cell lung cancer (NSCLC), the presence of tumor protein p53 (TP53) and ataxia-telangiectasia mutated (ATM) comutation might indicate better response to immune-checkpoint inhibitors (ICIs), according to Chinese researchers.Reuters Health Information (Source: Medscape Allergy Headlines)
Source: Medscape Allergy Headlines - October 3, 2019 Category: Allergy & Immunology Tags: Hematology-Oncology News Source Type: news

Health-related quality of life and depressive symptoms in Friedreich ataxia - P érez-Flores J, Hernández-Torres A, Montón F, Nieto A.
PURPOSE: Friedreich ataxia (FRDA) is a chronic, progressive and highly disabling cerebellar degenerative disease. Despite this, little attention has been paid to the health-related quality of life (HRQOL) in this disease. The aim of the present study was t... (Source: SafetyLit)
Source: SafetyLit - October 1, 2019 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

REGENXBIO Announces New License Agreement with Pfizer for the Treatment of Friedreich's Ataxia Using NAV(R) AAV9 Vector
ROCKVILLE, Md., July 31, 2019 -- (Healthcare Sales & Marketing Network) -- REGENXBIO Inc. (Nasdaq: RGNX), a leading clinical-stage biotechnology company seeking to improve lives through the curative potential of gene therapy based on its proprietary NAV T... Biopharmaceuticals, Neurology, Licensing REGENXBIO, Pfizer, Friedreich's ataxia, movement disorder (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - July 31, 2019 Category: Pharmaceuticals Source Type: news

Canine companion helps man with rare genetic disorder that leaves him confined to a wheelchair
Matthew Lafleur, 33, from Opelousas, Louisiana, was diagnosed with Friedreich's Ataxia when he was 11 years old. He now gets around with the help of his new service dog named Zeego. (Source: the Mail online | Health)
Source: the Mail online | Health - July 4, 2019 Category: Consumer Health News Source Type: news

Exclusive: Bala Cynwyd company raises $25.8M
The six-year-old biopharm company's new drug candidate targets Friedreich ’s Ataxia, a progressive disease that affects multiple body systems. (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 20, 2019 Category: American Health Authors: John George Source Type: news

Woman who thought she was clumsy is diagnosed with degenerative condition and now needs a walker
Madelyn Frederick, 20, from Dallas, Texas, was diagnosed in March 2013 with Friedreich's Ataxia, a rare genetic disease that affects the nervous system and causes a progressive loss of movement. (Source: the Mail online | Health)
Source: the Mail online | Health - May 15, 2019 Category: Consumer Health News Source Type: news

Woman who called herself 'clumsy' discovers she has a genetic disorder that makes her trip
Kelly Barendt, 26, from Strongsville, Ohio, was diagnosed at age 18 which had Friedreich's Ataxia, a rare genetic disease that affects the nervous system and causes a progressive loss of movement. (Source: the Mail online | Health)
Source: the Mail online | Health - April 30, 2019 Category: Consumer Health News Source Type: news

Does integrated cognitive and balance (dual-task) training improve balance and reduce falls risk in individuals with cerebellar ataxia? - Winser S, Pang MYC, Rauszen JS, Chan AYY, Chen CH, Whitney SL.
Frequent falls in people with cerebellar ataxia (CA) is a significant problem Therefore, an intervention that could improve balance and reduce the number of falls is of paramount importance from the patients' perspective. Combining cognitive training with ... (Source: SafetyLit)
Source: SafetyLit - April 25, 2019 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

The responsiveness of triaxial accelerometer measurement of gait ataxia is higher than that of the scale for the assessment and rating of ataxia in the early stages of spinocerebellar degeneration - Shirai S, Yabe I, Takahashi-Iwata I, Matsushima M, Ito YM, Takakusaki K, Sasaki H.
We reported previously that the average medial-lateral gait amplitude while walking on a straight path determined using triaxial accelerometers fixed on the middle of the upper back may be a quantitative and concise indicator for the severity of cerebellar... (Source: SafetyLit)
Source: SafetyLit - April 19, 2019 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

How Common Is Unintentional Cannabis Ingestion?
Discussion “[Cannabis] is a genus of flowering plant with three main varieties: sativa, indica and ruderalis.” It has been used for hundreds of years for hemp or fiber and also for psychoactive and medicinal effects. The active compounds are collectively called cannabinoids, of which delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) are the most abundant. The floral buds or calyxes of the plant have the most cannabinoids, but other parts of the plant are also used such as leaves. Hash oil, hashish (or resin) and marijuana (dried leaves) are the common products from strongest to least strongest products. ...
Source: PediatricEducation.org - March 11, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

C-Path, FARA launch Friedreich's Ataxia Clinical Database for Development of Treatments
(Critical Path Institute (C-Path)) C-Path's Data Collaboration Center and FARA announced the launch of the Friedreich's Ataxia Integrated Clinical Database. The platform will enable collaborative research and data sharing to support the understanding of natural history, biomarkers and clinical endpoints, and promote research into clinical trial design in Friedreich's ataxia. The organizations hope to enable the development of tools that will help design and interpret efficient clinical trials -- leading to effective treatments for FA as soon as possible. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 27, 2019 Category: International Medicine & Public Health Source Type: news

Delayed presentation of neck arteries dissection, caused by water slide activity - Alboudi AM, Sarathchandran P, Geblawi SS.
A 16-year-old Korean boy presented with acute onset vertigo, dysphagia and gait ataxia of 16  hours duration. He had history of headache and neck pain along with transient vertigo during a water slide ride 12 days before presentation. CT brain showed left... (Source: SafetyLit)
Source: SafetyLit - December 25, 2018 Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news

Patient survival after acute voluntary poisoning with a huge dose of oxcarbazepine and olanzapine - Kalogera V, Galopoulos D, Eleftheriotis G, Meimeti E, Malios I, Marathonitis G, Loupa C.
INTRODUCTION: Oxcarbazepine is a carbamazepine pre-drug with less drug interactions. Its adverse effects, including hyponatremia, somnolence and ataxia, are dose dependent. Olanzapine is an atypical antipsychotic drug most commonly used to manage psychoses... (Source: SafetyLit)
Source: SafetyLit - December 8, 2018 Category: International Medicine & Public Health Tags: Poisoning Source Type: news

What is the Recurrence Rate for Guillian-Barr é Syndrome and Should She Get An Influenza Vaccine?
Discussion Guillian-Barré syndrome (GBS) is an acquired, acute, inflammatory, demyelinating polyneuropathy. It is the most common cause of acute and subacute flaccid paralysis in children. GBS causes about 0.4-1.3 cases per 100,000 persons/year in children. It can occur in any age group and the incidence increases among all age groups until a peak in the 50s. Both genders are affected and there may be a slight increase in males. GBS usually occurs 2-4 weeks after a prodromal gastroenteritis or respiratory illness. GBS causes autoantibody production against Schwann cells of the neuron and the axon itself. There is ...
Source: PediatricEducation.org - November 19, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

New study offers hope for patients suffering from a rare form of blindness
(Duke Department of Neurology) A new form of therapy may halt or even reverse a form of progressive vision loss that, until now, has inevitably led to blindness. This hyper-targeted approach offers hope to individuals living with spinocerebellar ataxia type 7 (SCA7) and validates a new form of therapy with the potential to treat neurogenetic diseases effectively and with far fewer side effects than other medications. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 1, 2018 Category: International Medicine & Public Health Source Type: news

Finding that links ALS/ataxia to cellular stress opens new approaches for treatment
(University of Utah) Scientists at University of Utah Health report for the first time that a protein, called Staufen1, accumulates in cells of patients suffering from degenerative ataxia or amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. Depleting the protein from affected mice improved symptoms including motor function. These results suggest that targeting Staufen1 could have therapeutic potential in people. The research is published in Nature Communications. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 7, 2018 Category: International Medicine & Public Health Source Type: news

An intrinsic S/G2 checkpoint enforced by ATR
The cell cycle is strictly ordered to ensure faithful genome duplication and chromosome segregation. Control mechanisms establish this order by dictating when a cell transitions from one phase to the next. Much is known about the control of the G1/S, G2/M, and metaphase/anaphase transitions, but thus far, no control mechanism has been identified for the S/G2 transition. Here we show that cells transactivate the mitotic gene network as they exit the S phase through a CDK1 (cyclin-dependent kinase 1)–directed FOXM1 phosphorylation switch. During normal DNA replication, the checkpoint kinase ATR (ataxia-telangiectasia a...
Source: ScienceNOW - August 23, 2018 Category: Science Authors: Saldivar, J. C., Hamperl, S., Bocek, M. J., Chung, M., Bass, T. E., Cisneros-Soberanis, F., Samejima, K., Xie, L., Paulson, J. R., Earnshaw, W. C., Cortez, D., Meyer, T., Cimprich, K. A. Tags: Cell Biology, Molecular Biology reports Source Type: news

Electrical Stimulation Helps Ataxia Symptoms (CME/CE)
(MedPage Today) -- Brain and spinal cord tDCS improved all performance scores in trial (Source: MedPage Today Neurology)
Source: MedPage Today Neurology - August 22, 2018 Category: Neurology Source Type: news

Mechanism behind rare ataxia disease found by NIEHS scientists
NIEHS researchers reported how inactivation of a protein causes the rare disorder known as ataxia with oculomotor apraxia 1. (read more) (Source: Environmental Factor - NIEHS Newsletter)
Source: Environmental Factor - NIEHS Newsletter - August 2, 2018 Category: Environmental Health Source Type: news

An ATM that dispenses antioxidants
(Salk Institute) Research led by a Salk Institute professor along with collaborators from Yale, Appalachian State University and other institutions found that a protein called ATM (short for ataxia-telangiectasia mutated) can sense the presence of ROS and responds by sounding the alarm to trigger the production of antioxidants. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - July 10, 2018 Category: Biology Source Type: news

Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity
Mitochondria are integral to cellular energy metabolism and ATP production and are involved in regulating many cellular processes. Mitochondria produce reactive oxygen species (ROS), which not only can damage cellular components but also participate in signal transduction. The kinase ATM, which is mutated in the neurodegenerative, autosomal recessive disease ataxia-telangiectasia (A-T), is a key player in the nuclear DNA damage response. However, ATM also performs a redox-sensing function mediated through formation of ROS-dependent disulfide-linked dimers. We found that mitochondria-derived hydrogen peroxide promoted ATM d...
Source: Signal Transduction Knowledge Environment - July 10, 2018 Category: Science Authors: Zhang, Y., Lee, J.-H., Paull, T. T., Gehrke, S., DAlessandro, A., Dou, Q., Gladyshev, V. N., Schroeder, E. A., Steyl, S. K., Christian, B. E., Shadel, G. S. Tags: STKE Research Articles Source Type: news

Gene silencing alleviates Machado-Joseph disease in study with mice
A gene-silencing technique was effective in slowing the progression of ataxia, according to a study with mice. (Source: Health News - UPI.com)
Source: Health News - UPI.com - June 20, 2018 Category: Consumer Health News Source Type: news

University of Michigan researchers use gene silencing to alleviate common ataxia
(Michigan Medicine - University of Michigan) In what researchers are calling a game changer for future ataxia treatments, a new study showed the ability to turn down the disease progression of the most common dominantly inherited ataxia, Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease. A single gene mutation causes this neurodegenerative disease, making it an ideal target for researchers. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - June 20, 2018 Category: Biology Source Type: news

Could stem cell therapy be an effective treatment for Friedreich ’ s ataxia?
Researchers at the University of Bristol are looking for people with an inherited neurological condition called Friedreich's ataxia (FA) to take part in a study into whether a stem cell therapy could be a treatment for FA. (Source: University of Bristol news)
Source: University of Bristol news - April 17, 2018 Category: Universities & Medical Training Tags: Health, International, Research; Faculty of Health Sciences, Faculty of Health Sciences, Translational Health Sciences; Press Release Source Type: news

Could statins ease deadly heart condition in rare neuromuscular disease?
(University of Pennsylvania School of Medicine) Decreased HDL and ApoA-l levels in the general population are associated with an increased risk of death from cardiomyopathy and heart failure. Researchers found the FA patients had serum ApoA-I levels lower than healthy control subjects. In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the " good cholesterol. " (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 17, 2018 Category: International Medicine & Public Health Source Type: news

New options for targeting gene mutation in FA described in nucleic acid therapeutics
(Mary Ann Liebert, Inc./Genetic Engineering News) Researchers have shown that a wide variety of synthetic antisense oligonucleotides with different chemical modifications can activate the frataxin gene, which contains a mutation that decreases its expression in the inherited neurologic disorder Friedreich's ataxia (FA). (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - March 8, 2018 Category: Biology Source Type: news