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

Research reveals a mechanism that drives ataxia type 1
(Baylor College of Medicine) Researchers have learned that polyQ-ATAXIN1 and capicua form a complex that is sufficient to trigger spinocerebellar ataxia type 1 in mice. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - March 8, 2018 Category: Biology Source Type: news

David Geffen School Medicine at UCLA presents award for excellence in basic science research
Dr. Huda Zoghbi, a Baylor College of Medicine professor whose work holds promise for treating a range of neurological and neuropsychiatric disorders, received an annual award for excellence in biological and biomedical sciences research from theDavid Geffen School of Medicine at UCLA.The medical school ’s dean, Dr. Kelsey Martin, presented Zoghbi with the 2017Switzer Prize during a Feb. 16 ceremony. Zoghbi received a $25,000 honorarium and a statuette.“Her story is a beautiful illustration of the connection between medicine and science, and a lesson in the value of maintaining curiosity and open-mindedness,&rdq...
Source: UCLA Newsroom: Health Sciences - February 17, 2018 Category: Universities & Medical Training Source Type: news

David Geffen School of Medicine at UCLA presents award for excellence in basic science research
Dr. Huda Zoghbi, a Baylor College of Medicine professor whose work holds promise for treating a range of neurological and neuropsychiatric disorders, received an annual award for excellence in biological and biomedical sciences research from theDavid Geffen School of Medicine at UCLA.The medical school ’s dean, Dr. Kelsey Martin, presented Zoghbi with the 2017Switzer Prize during a Feb. 16 ceremony. Zoghbi received a $25,000 honorarium and a statuette.“Her story is a beautiful illustration of the connection between medicine and science, and a lesson in the value of maintaining curiosity and open-mindedness,&rdq...
Source: UCLA Newsroom: Health Sciences - February 16, 2018 Category: Universities & Medical Training Source Type: news

Can smoking marijuana cause meningitis?
Cryptococcus neoformans (wikipedia.org) 2.5 out of 5 stars Cryptococcal meningitis in a daily cannabis smoker without evidence of immunodeficiency. Shapiro BB et al. BMJ Case Rep 2018 Jan 26 [Epub ahead of print] Abstract Can smoking marijuana cause meningitis? The question is not unreasonable. A wide range of pathogenic fungi — including Aspergillus and various Cryptococcus species — have been isolated from dispensary-grade medical marijuana samples. Concern that these pathogens could cause pneumonia or central nervous system infections has focussed on those with immunodeficiency, such...
Source: The Poison Review - February 2, 2018 Category: Toxicology Authors: Leon Gussow Tags: Medical cannabis cryptococcus fungal infection marijuana meningitis Source Type: news

Should I Worry About This Telangiectasia?
Discussion Vascular stains are common problems that parents seek guidance about as they are often particularly worried that there may be an underlying problem or that it may be a long-term cosmetic problem. Fortunately many resolve or become less prominent or have treatment available. The term vascular stains includes all vascular malformations but commonly refers more directly to capillary malformations which are quite common. Some common vascular stains include: Nevus simplex Names: Angel’s kiss (glabella or forehead), salmon patch, stork bite (nape of neck), nevus roseus, fading macular stain Epidemiology: Very ...
Source: PediatricEducation.org - January 29, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Medical News Today: What happens in gluten ataxia?
Learn about gluten ataxia, where the intake of gluten can trigger an attack on the nervous system. We look at the symptoms, diagnosis, and treatment. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - January 25, 2018 Category: Consumer Health News Tags: Food Intolerance Source Type: news

Anterior Cerebral Artery Vasculopathy Secondary to Miliary TB Anterior Cerebral Artery Vasculopathy Secondary to Miliary TB
What did brain MRI reveal about the cause of ataxia in this patient recently diagnosed with HIV infection and miliary tuberculosis?Applied Radiology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - January 16, 2018 Category: Consumer Health News Tags: Radiology Journal Article Source Type: news

Construct validity and reliability of the SARA Gait and Posture Sub-scale in early onset ataxia - Lawerman TF, Brandsma R, Verbeek RJ, van der Hoeven JH, Lunsing RJ, Kremer HPH, Sival DA.
AIM: In children, gait and posture assessment provides a crucial marker for the early characterization, surveillance and treatment evaluation of early onset ataxia (EOA). For reliable data entry of studies targeting at gait and posture improvement, uniform... (Source: SafetyLit)
Source: SafetyLit - January 16, 2018 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

What Treatment is Recommended for Common Headaches?
Discussion Headache is pain in the scalp, forehead, orbits and temple. Facial and neck pain are usually excluded from this definition. It is a common problem with more than 6 million pediatric patients having migraine. Headaches can also have co-morbidities and more than 1 primary headache type can co-exist. The costs are high both economically and in the quality of life for the patients and families. A review of common headache types and indications for neuroimaging can be found here. Treatment is necessarily multi-pronged. Patients should understand their diagnosis so they can understand what reasonably can be expected...
Source: PediatricEducation.org - January 15, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

ATM directs DNA damage responses and proteostasis via genetically separable pathways
The protein kinase ATM is a master regulator of the DNA damage response but also responds directly to oxidative stress. Loss of ATM causes ataxia telangiectasia, a neurodegenerative disorder with pleiotropic symptoms that include cerebellar dysfunction, cancer, diabetes, and premature aging. We genetically separated the activation of ATM by DNA damage from that by oxidative stress using separation-of-function mutations. We found that deficient activation of ATM by the Mre11-Rad50-Nbs1 complex and DNA double-strand breaks resulted in loss of cell viability, checkpoint activation, and DNA end resection in response to DNA dam...
Source: Signal Transduction Knowledge Environment - January 9, 2018 Category: Science Authors: Lee, J.-H., Mand, M. R., Kao, C.-H., Zhou, Y., Ryu, S. W., Richards, A. L., Coon, J. J., Paull, T. T. Tags: STKE Research Articles Source Type: news

A mitosis-specific and R loop-driven ATR pathway promotes faithful chromosome segregation
The ataxia telangiectasia mutated and Rad3-related (ATR) kinase is crucial for DNA damage and replication stress responses. Here, we describe an unexpected role of ATR in mitosis. Acute inhibition or degradation of ATR in mitosis induces whole-chromosome missegregation. The effect of ATR ablation is not due to altered cyclin-dependent kinase 1 (CDK1) activity, DNA damage responses, or unscheduled DNA synthesis but to loss of an ATR function at centromeres. In mitosis, ATR localizes to centromeres through Aurora A–regulated association with centromere protein F (CENP-F), allowing ATR to engage replication protein A (R...
Source: ScienceNOW - January 4, 2018 Category: Science Authors: Kabeche, L., Nguyen, H. D., Buisson, R., Zou, L. Tags: Cell Biology reports Source Type: news

Study reveals reversibility of Friedreich ’s ataxia in mice
Friedreich ’s ataxia is an inherited disease that causes damage to the nervous system and a loss of coordination that typically progresses to muscle weakness. It can begin causing symptoms in childhood or early adulthood and, over time, it can also lead to vision loss and diabetes.Scientists seeking a better understanding of the disease have tried for years to replicate the disease ’s symptoms and progression in laboratory mice, but until recently have been largely unsuccessful.Now, a team of UCLA researchers has recreated aspects of Friedreich ’s ataxia in mice and shown that many early symptoms of the d...
Source: UCLA Newsroom: Health Sciences - January 2, 2018 Category: Universities & Medical Training Source Type: news

Synthetic transcription elongation factors license transcription across repressive chromatin
The release of paused RNA polymerase II into productive elongation is highly regulated, especially at genes that affect human development and disease. To exert control over this rate-limiting step, we designed sequence-specific synthetic transcription elongation factors (Syn-TEFs). These molecules are composed of programmable DNA-binding ligands flexibly tethered to a small molecule that engages the transcription elongation machinery. By limiting activity to targeted loci, Syn-TEFs convert constituent modules from broad-spectrum inhibitors of transcription into gene-specific stimulators. Here we present Syn-TEF1, a molecul...
Source: ScienceNOW - December 21, 2017 Category: Science Authors: Erwin, G. S., Grieshop, M. P., Ali, A., Qi, J., Lawlor, M., Kumar, D., Ahmad, I., McNally, A., Teider, N., Worringer, K., Sivasankaran, R., Syed, D. N., Eguchi, A., Ashraf, M., Jeffery, J., Xu, M., Park, P. M. C., Mukhtar, H., Srivastava, A. K., Faruq, M. Tags: Biochemistry, Medicine, Diseases reports Source Type: news

A systematic review of the gait characteristics associated with cerebellar ataxia - Buckley E, Mazz à C, McNeill A.
BACKGROUND: Cerebellar Ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that manifests as problems with balance and walking leading to considerable disability. T... (Source: SafetyLit)
Source: SafetyLit - December 11, 2017 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

How Does Pediatric Sj ö gren Syndrome Present?
Discussion Sjögren Syndrome (SS) is named for Swedish ophthalmologist Henrik Sjögren who published a case series in 1933 describing patients with dry eyes and arthritis. SS is a “chronic autoimmune inflammatory exocrinopathy” that is characterized by lymphocytic infiltration of the lacrimal and salivary glands and has various degrees of systematic involvement. Keratoconjunctivitis sicca and xerostomia are the main clinical symptoms. Sicca is a Latin word meaning dry. Dryness of the eyes and mouth without evidence of autoimmune disease is called Sicca syndrome or Sicca complex. SS can be primary or se...
Source: PediatricEducation.org - December 11, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

3.9 A structure of the yeast Mec1-Ddc2 complex, a homolog of human ATR-ATRIP
The ataxia telangiectasia–mutated and Rad3-related (ATR) kinase is a master regulator of DNA damage response and replication stress in humans, but the mechanism of its activation remains unclear. ATR acts together with its partner ATRIP. Using cryo–electron microscopy, we determined the structure of intact Mec1-Ddc2 (the yeast homolog of ATR-ATRIP), which is poised for catalysis, at a resolution of 3.9 angstroms. Mec1-Ddc2 forms a dimer of heterodimers through the PRD and FAT domains of Mec1 and the coiled-coil domain of Ddc2. The PRD and Bridge domains in Mec1 constitute critical regulatory sites. The activati...
Source: ScienceNOW - November 30, 2017 Category: Science Authors: Wang, X., Ran, T., Zhang, X., Xin, J., Zhang, Z., Wu, T., Wang, W., Cai, G. Tags: Biochemistry, Molecular Biology reports Source Type: news

Early intervention may hold key to treatment of Friedreich's ataxia
(The Company of Biologists) Current treatments may be administered too late to target Friedreich's ataxia effectively. New research using a slow-onset frataxin knock-in/knockout mouse model showed significantly reduced levels of mitochondrial biosynthesis proteins and early mitochondrial deficiency in the cerebellar cortex, even at pre-symptomatic stages of development. This suggests that the progressive degeneration in mitochondrial function seen in individuals with Friedreich's ataxia is not only the mechanism causing the disease, but also a potential biomarker and therapeutic target. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 8, 2017 Category: International Medicine & Public Health Source Type: news

Repetitive TMS May Improve Gait, Balance in MS-Related Ataxia Repetitive TMS May Improve Gait, Balance in MS-Related Ataxia
Combined with intensive physical therapy, rTMS over 4 weeks improved gait and balance and decreased falls in patients with ataxia compared with those who received a sham procedure.Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - November 7, 2017 Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

Papers of note in Science Translational Medicine 9 (413)
This week’s articles describe new therapeutic targets for pulmonary arterial hypertension, acute myeloid leukemia, and Friedreich’s ataxia. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - October 31, 2017 Category: Science Authors: Ferrarelli, L. K. Tags: STKE Editors ' Choice Source Type: news

Transplanted hematopoietic stem cells reverse damage caused by neuro-muscular disorder
Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease. The findings, published online in the October 25 issue of Science Translational Medicine, suggest a potential therapeutic approach for a disease that currently is considered incurable. (Source: World Pharma News)
Source: World Pharma News - October 26, 2017 Category: Pharmaceuticals Tags: Featured Research Research and Development Source Type: news

Transplanted hematopoietic stem cells reverse damage caused by neuro-muscular disorder
(University of California - San Diego) Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 25, 2017 Category: International Medicine & Public Health Source Type: news

Resveratrol stimulates the metabolic reprogramming of human CD4+ T cells to enhance effector function
The polyphenol resveratrol activates the deacetylase Sirt1, resulting in various antioxidant, chemoprotectant, neuroprotective, cardioprotective, and anti-inflammatory properties. We found that at high concentrations of resveratrol, human CD4+ T cells showed defective antigen receptor signaling and arrest at the G1 stage of the cell cycle, whereas at low concentrations, cells were readily activated and exhibited enhanced Sirt1 deacetylase activity. Nevertheless, low-dose resveratrol rapidly stimulated genotoxic stress in the T cells, which resulted in engagement of a DNA damage response pathway that depended on the kinase ...
Source: Signal Transduction Knowledge Environment - October 17, 2017 Category: Science Authors: Craveiro, M., Cretenet, G., Mongellaz, C., Matias, M. I., Caron, O., de Lima, M. C. P., Zimmermann, V. S., Solary, E., Dardalhon, V., Dulic, V., Taylor, N. Tags: STKE Research Articles Source Type: news

Biohaven Reports Negative Topline Data from Spinocerebellar Ataxia (SCA) Phase 2/3 Trial
Trigriluzole did not differentiate from placebo on the primary endpoint or key secondary outcome measure at the end of the 8-week randomization phase. Placebo response rates in this study were higher than expected compared to prior European randomized c... Biopharmaceuticals, Neurology Biohaven Pharmaceutical, trigriluzole, spinocerebellar ataxia (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - October 2, 2017 Category: Pharmaceuticals Source Type: news

What Clinical Signs Can Be Associated With Benign External Hydrocephalus?
Discussion Hydrocephalus is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles and/or subarachnoid spaces. External hydrocephalus is a communicating hydrocephalus often defined as the patient having a rapidly enlarging head circumference (HC) and enlargement of the subarachnoid spaces especially over the frontal lobes with normal or moderately enlarged ventricles. Benign external hydrocephalus (BEH) is a self-limited external hydrocephalus that occurs during infancy and resolves spontaneously in childhood, usually by age 2 years, that is felt to not cause significant problems. It was first described by...
Source: PediatricEducation.org - October 2, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

What Causes Microcephaly?
Patient Presentation A 5-month-old male came to clinic for his health supervision visit and followup from his neonatal intensive care stay. He was born prematurely at 28 weeks gestation and his stay was complicated by a right sided Grade III intraventricular hemorrhage, a left-sided Grade IV intraventricular hemorrhage, neonatal seizures, respiratory distress and bronchopulmonary dysplasia, retinopathy of prematurity, acute kidney injury that had resolved, possible necrotizing enterocolitis incidents x 2, and herpes simplex encephalitis. He was on home oxygen, a nasogastric feeding tube because of aspiration risk and mult...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Jupiter Orphan Therapeutics Receives Orphan Drug Designation for its Trans-Resveratrol Product JOTROL for Treatment of Friedreich's Ataxia
JUPITER, Fla., Aug. 22, 2017 -- (Healthcare Sales & Marketing Network) -- Jupiter Orphan Therapeutics, Inc. ("JOT"), Jupiter, FL, today announced that it has received notification from the US Food and Drug Administration (FDA) that its Orphan Dr... Biopharmaceuticals, Neurology, FDA Jupiter Orphan Therapeutics, JOTROL, Resveratrol, Friedreich's Ataxia (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - August 22, 2017 Category: Pharmaceuticals Source Type: news

Patient Reps: Bringing the voice of patients to FDA
By: Jack Kalavritinos At FDA we never lose sight of the fact that the work we do in evaluating and approving new medical products is done to benefit patients. Increasingly, that means taking into account the views and expertise of patients and their caregivers, because they provide a unique voice and perspective and know best what they are living with on a day-to-day basis. Earlier this month, for instance, we announced the creation of the first advisory committee made up solely of patients and caregivers, who will provide advice on complex issues related to medical devices. Another way we incorporate the patient viewpoint...
Source: Mass Device - July 31, 2017 Category: Medical Devices Authors: Danielle Kirsh Tags: Blog FDA Voice Source Type: news

Genetic sequencing unravels rare disease mysteries
When Audrey Lapidus ’ 10-month old son, Calvin, didn’t reach normal milestones like rolling over or crawling, she knew something was wrong.“He was certainly different from our first child,” said Lapidus, of Los Angeles. “He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.”Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.“I was pushing for even more testing, and our geneticist at UCLA said, ‘If you can wait one more month, we’re going to be launching a brand new test called exome sequen...
Source: UCLA Newsroom: Health Sciences - July 18, 2017 Category: Universities & Medical Training Source Type: news

David Geffen School of Medicine at UCLA names winner of Switzer Prize for research excellence
Dr. Huda Zoghbi, a neurologist whose work has revealed the molecular basis of neurological disorders, is the recipient of the 2017 Switzer Prize awarded by theDavid Geffen School of Medicine at UCLA for excellence in biological and biomedical sciences research.Zoghbi ’s lab at the Baylor College of Medicine identified a gene mutation that causes Rett syndrome, a severe genetic disorder that mostly affects girls. After a short period of apparently normal development, the disorder causes them to lose language and motor skills, typically by 18 months of age. The discovery paved the way for a genetic test to diagnose the...
Source: UCLA Newsroom: Health Sciences - June 19, 2017 Category: Universities & Medical Training Source Type: news

Hope for Patients with Friedreich's Ataxia and Related Diseases - Neurodegenerative Disease Mechanism and Potential Drug Identified
UCD researchers report on new studies of progressive, neurodegenerative diseases linked to defects in cells mitochondria and hope for developing a new biomarker and drug for treating such diseases (Source: Disabled World)
Source: Disabled World - June 8, 2017 Category: Disability Tags: Medical Research Source Type: news

Hemp seed oil may possibly (but not probably) cause cannabinoid poisoning
2.5 out of 5 stars Cannabinoid Poisoning by Hemp Seed Oil in a Child. Chinello M et al. Pediatr Emerg Care 2017;33:344-345. Abstract This interesting but non-dispositive short case report from Italy suggests that, in rare instances, commercially marketed hemp seed oil can cause mild cannabinoid toxicity. A 2-year-7-month old male was brought to hospital with altered mental status and several hours of “decreased alertness, refusal to walk, and no verbal response.” Additional findings included: “paleness, stupor, [and] low reactivity to stimulation.” Pulse rate was 129 bpm. There was no ataxia. The p...
Source: The Poison Review - May 10, 2017 Category: Toxicology Authors: Leon Gussow Tags: Medical cannabinoid cannabis hemp seed oil pediatric subacute poisoning Source Type: news

Treatment shows promise in models of fatal neurological disorders
A gene-silencing drug improved symptoms in mouse models of ataxia and amyotrophic lateral sclerosis. The results suggest a possible therapy for these untreatable neurological diseases. (Source: NIH Research Matters from the National Institutes of Health (NIH))
Source: NIH Research Matters from the National Institutes of Health (NIH) - April 25, 2017 Category: Consumer Health News Source Type: news

p53 dynamics in response to DNA damage vary across cell lines and are shaped by efficiency of DNA repair and activity of the kinase ATM
Cellular systems show a wide range of signaling dynamics. Many of these dynamics are highly stereotyped, such as oscillations at a fixed frequency. However, most studies looking at the role of signaling dynamics focus on one or a few cell lines, leaving the diversity of dynamics across tissues or cell lines a largely unexplored question. We focused on the dynamics of the tumor suppressor protein p53, which regulates cell cycle arrest and apoptosis in response to DNA damage. We established live-cell reporters for 12 cancer cell lines expressing wild-type p53 and quantified p53 dynamics in response to double-strand break&nda...
Source: Signal Transduction Knowledge Environment - April 25, 2017 Category: Science Authors: Stewart-Ornstein, J., Lahav, G. Tags: STKE Research Articles Source Type: news

Gene silencing shows promise for treating two fatal neurological disorders
A drug, engineered to combat the gene that causes spinocerebellar ataxia type 2 (SCA2), might also be used to treat amyotrophic lateral sclerosis (ALS), researchers have demonstrated in two studies of mice. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 12, 2017 Category: Science Source Type: news

Gene silencing shows promise for treating two fatal neurological disorders
NIH-funded preclinical studies suggest designer drug may treat ALS and spinocerebellar ataxia 2. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - April 12, 2017 Category: American Health Source Type: news

What Are the Clinical Symptoms Associated with Friedreich Ataxia?
Discussion Friedreich ataxia (FRDA) was first extensively described in a series of papers from 1863-1877 by Nikolaus Friedreich at the University of Heidelberg, Germany. In 1996 the genetic mutation was described. It is an autosomal recessively inherited, homologous expansion of the GAA repeat in intron 1 of the frataxin gene on chromosome 9q13. It causes a transcription error leading to a decrease in frataxin which is a mitochondrial protein involved in iron metabolism and other cell functions. Frataxin is seen mainly in the central and peripheral nervous systems, heart, pancreas and skeleton. Frataxin is produced but in ...
Source: PediatricEducation.org - April 10, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Geelong mother opens up about rare inherited disease
Leah Alstin, from Geelong, was diagnosed with Friedreich's ataxia when she was 17 years old. The rare inherited disease progressively damages the nervous system. (Source: the Mail online | Health)
Source: the Mail online | Health - March 2, 2017 Category: Consumer Health News Source Type: news

Borna Disease Virus, Schizophrenia, Bipolar Disorder & Depression
This study closes the door on the relationship between BDV and mental illness in humans. There is no apparent connection between the Borna Disease Virus and schizophrenia, bipolar disorder, or depression.   References Bautista J R, Schwartz G J, de la Torre J C, Moran T H, Carbone K M. Early and persistent abnormalities in rats with neonatally acquired Borna disease virus infection. Brain Res Bull. 1994;34:31–40. Carbone, K. M. (2001). Borna Disease Virus and Human Disease. Clinical Microbiology Reviews, 14(3), 513–527. http://doi.org/10.1128/CMR.14.3.513-527.2001 Dittrich W, Bode L, Ludwig H, Kao M, Schne...
Source: Psych Central - February 2, 2017 Category: Psychiatry Authors: John M. Grohol, Psy.D. Tags: Bipolar Depression Disorders General Schizophrenia BDV behavioral symptoms Bipolar Disorder Borna disease virus borna virus Infectious disease Source Type: news

Fatal self-envenomation in a brown tree snake, Boiga irregularis, from South-east Queensland: a case report - Hill AG, McKillop L.
The case history and clinical signs of a fatal self-envenomation event by a brown tree snake, Boiga irregularis, in South-east Queensland, Australia, are presented. Clinical signs began 20 minutes post-envenomation with muscle twitching, ataxia, and heat s... (Source: SafetyLit)
Source: SafetyLit - December 26, 2016 Category: Global & Universal Tags: Non-Human Animals and Insects Source Type: news

SfN: Ballet Improves Ataxia in MS (CME/CE)
(MedPage Today) -- Dance program improved movement in pilot study (Source: MedPage Today Meeting Coverage)
Source: MedPage Today Meeting Coverage - November 16, 2016 Category: Journals (General) Source Type: news

How Long Do Concussive Symptoms Last?
Discussion Concussion as defined by the International Conference on Concussion in Sport in 2012 is “Concussion is a brain injury and is defined as a complex pathophysiological process affecting the brain, induced by biomechanical forces.” It results in quick onset of signs and symptoms of physical and cognitive impairment. Concussion is sometimes referred to as mild traumatic brain injury (TBI) as mild TBI refers to “…concussions that are generally not life threatening despite the potential for short-term disability and serious ongoing sequelae.” Concussion symptoms are usually categorized as...
Source: PediatricEducation.org - October 31, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Unilateral Scleral Jaundice in an Elderly Man: An Odd Finding
Left scleral icterus is the only prominent physical finding in the 86-year-old who presented with transient aphasia, ataxia, and general asthenia. Can you dx? (Source: ConsultantLive)
Source: ConsultantLive - September 8, 2016 Category: Internal Medicine Authors: Ali Ahmadizadeh, MD Pharlin Noel, PA-C Source Type: news