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
When Is the Clinical Nadir for Guillain-Barr é Syndrome?
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 prodromonal gastroenteritis or respiratory illness. It is most often associated with Campylobacter jejunae, Haemophilus infuenza, Mycoplasma pneumoniae,...
Source: PediatricEducation.org - August 8, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Horizon Pharma plc to Acquire Worldwide Rights to Interferon Gamma-1b From Boehringer Ingelheim International GmbH
Also Licenses Rights to Patents and Pending Applications Covering Methods for Treating Friedreich's Ataxia With Interferon Gamma-1b; Company Currently Owns the Rights to Interferon Gamma-1b Under the Trade Name ACTIMMUNE(R) in the United States, Canada and... Biopharmaceuticals, Licensing, AcquisitionsHorizon Pharma, Boehringer Ingelheim, interferon gamma-1b (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - May 19, 2016 Category: Pharmaceuticals Source Type: news
The interrelationship between disease severity, dynamic stability, and falls in cerebellar ataxia - Schniepp R, Schlick C, Pradhan C, Dieterich M, Brandt T, Jahn K, Wuehr M.
This study systematically correlated the clinical rat... (Source: SafetyLit)
Source: SafetyLit - May 19, 2016 Category: Global & Universal Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
Immune system 'plays a role in dementia'
Conclusion This review presents evidence supporting the idea that the innate immune system is involved in a range of neurodegenerative conditions, such as Alzheimer's and Parkinson's. Reviews like this are very useful at summarising the current state of science in an area, but may miss important research, unless they are systematic. This review was openly one-sided, transparently exploring the evidence behind one hypothesis. While there is nothing wrong with that, a more systematic and balanced review would add the extra value of being able to discuss alternative ideas and find out how much evidence stacks up behind each...
Source: NHS News Feed - May 13, 2016 Category: Consumer Health News Tags: Neurology Older people Source Type: news
Horizon Pharma completes patent enrolment for Phase lll trial of actimmuneto treat Friedreich's Ataxia
Ireland-based biopharmaceutical company Horizon Pharma has completed its target enrolment of 90 patients for Phase lll trial of actimmune (interferon gamma-1b) to treat Friedreich's Ataxia (FA) disease. (Source: Drug Development Technology)
Source: Drug Development Technology - May 5, 2016 Category: Pharmaceuticals Source Type: news
Metronidazole-induced cerebellar syndrome
3.5 out of 5 stars Metronidazole-Associated Encephalopathy. Farmakiotis D, Zeluff B. N Engl J Med 2016 Apr 14;374:1465 Full Text Exposure to metronidazole (Flagyl) can precipitate a subacute cerebellar syndrome, typically manifested with dysarthria and ataxia, with or without cognitive impairment. This adverse effect is uncommon and little-appreciated. Although usually associated with prolonged exposure to the antibiotic for treatment of conditions such as abscesses of Clostridium difficile-associated diarrhea and occurring after total cumulative dose> 20 gm, ...
Source: The Poison Review - April 15, 2016 Category: Toxicology Authors: Leon Gussow Tags: Medical acute cerebellar syndrome encephalopathy metronidazole miri neurotoxicity Source Type: news
UCLA research suggests that gut bacteria could help prevent cancer
Researchers have shown that various types of intestinal bacteria might be factors in both causing and preventing obesity, and in other conditions and diseases. Now, a UCLA study suggests that it could also potentially be used to reduce the risk for some types of cancer. The research, published online April 13 in the peer-reviewed journal PLOS ONE, offers evidence that anti-inflammatory “health beneficial” gut bacteria can slow or stop the development of some types of cancer. Ultimately, doctors might be able to reduce a person’s risk for cancer by analyzing the levels and types of intestinal bacteria in...
Source: UCLA Newsroom: Health Sciences - April 13, 2016 Category: Universities & Medical Training Source Type: news
Exome sequencing improves doctors’ ability to diagnose hard-to-pin-down neurogenetic disorders
UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions. The test, called exome sequencing, involves determining the order of all of the genes in a person’s genome. When used in concert with a complete patient evaluation and family medical history, the approach can help doctors identify disorders that may have gone un...
Source: UCLA Newsroom: Health Sciences - April 5, 2016 Category: Universities & Medical Training Source Type: news
Biodex fall risk assessment in the elderly with ataxia: a new age-dependent derived index in rehabilitation: an observational study - Prometti P, Olivares A, Gaia G, Bonometti G, Comini L, Scalvini S.
The aim of this study was to evaluate if the Biodex Fall Risk Assessment could provide an age-adjusted index useful for classifying patients at "risk of fall."This was a cohort study conducted on 61 chronic patients, in stable conditions, having a history ... (Source: SafetyLit)
Source: SafetyLit - March 25, 2016 Category: Global & Universal Tags: Age: Elder Adults Source Type: news
Genetic Cause of Spinocerebellar Ataxia (SCA) Identified
Researchers identify new mutation responsible for Spinocerebellar Ataxia (SCA), a degenerative and ultimately fatal movement disorder (Source: Disabled World)
Source: Disabled World - March 14, 2016 Category: Disability Tags: Medical Research Source Type: news
UT Southwestern scientists find potential treatment for Friedreich's ataxia
(UT Southwestern Medical Center) Researchers at UT Southwestern Medical Center have identified synthetic RNA and DNA that reverses the protein deficiency causing Friedreich's ataxia, a neurological disease for which there is currently no cure. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - February 16, 2016 Category: Biology Source Type: news
Children's Guaifenesin Grape Liquid and Guaifenesin DM Cherry Liquid by Perrigo Company: Recall - Potential Defect with Dosage Cup
An overdose of Guaifenesin DM may cause hyper excitability, rapid eye movements, changes in muscle reflexes, ataxia, dystonia, hallucinations, stupor, and coma. (Source: FDA MedWatch)
Source: FDA MedWatch - January 13, 2016 Category: American Health Source Type: news
Recall Issued For Children’s Cold Medicine
BOSTON (CBS) — A recall for a children’s cold medicine sold by retailers like CVS and Stop and Shop has been issued. In a release posted on the company’s website, Perrigo Company said they had issued a recall for two batches of their children’s guaifenesin grape liquid and three batches of their children’s guaifenesin DM cherry liquid. Both products are sold in 4 oz. bottles with a dosage cup included in the package. The recall was issued because the markings on some of the dosage cups are inaccurate–which could lead to overdoses. “There have been no reports of adver...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - January 12, 2016 Category: Consumer Health News Authors: Jon Palmer Tags: Health Local News Syndicated Local drug recall Perrigo Source Type: news
Miller Fisher Syndrome: General Overview & Information
Miller Fisher Syndrome or, 'MFS,' is a post-infectious, immune mediated neuropathy characterized in typical instances by the clinical triad of ataxia, areflexia and ophthalmoplegia. MFS is considered to be a variant of Guillain-Barre syndrome or, 'GBS.' The clinical symptoms usually develop within days and improve spontaneously or following treatment within a period of weeks. People with MFS often show only part of the clinical triad. (Source: Disabled World)
Source: Disabled World - December 22, 2015 Category: Disability Tags: Neurological Disorders Source Type: news
Certain herpes viruses can infect human neurons
(University of Pennsylvania School of Medicine) A tantalizing link exists between some neurologic conditions and certain species of herpes virus. In some patients with Alzheimer's disease, multiple sclerosis, and cerebellar ataxia, among others, the cerebrospinal fluid teems with Epstein-Barr virus. Yet, the link remains unclear. It's been assumed that EBV, and viruses in the same family cannot infect neurons. Now, researchers have shown that EBV and Kaposi's sarcoma-associated herpesvirus can infect and replicate in cultured and primary neurons. (Source: EurekAlert! - Infectious and Emerging Diseases)
Source: EurekAlert! - Infectious and Emerging Diseases - December 4, 2015 Category: Infectious Diseases Source Type: news
Genetic defect underlying a rare disease identified
The genetic cause has been identified for a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy and ataxia (a movement disorder), when the patient reaches school age. In 2007 the same researchers published a mutation in the Scyl1 gene in a naturally occurring mouse mutant with similar symptoms. Using next-generation sequencing techniques, they have now succeeded in identifying the first cases of a corresponding condition in humans. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - November 13, 2015 Category: Science Source Type: news
Genomics Moves From the Lab to the Doctor's Office
By Diana Brazzell, Co-Founder & Executive Editor, Footnote This post was originally published on Footnote, a website that brings academic research and ideas to a broader audience. Since the discovery of DNA, people have anticipated how deciphering the secrets in our genes might one day transform medicine. The first commonly used genetic tests appeared in the 1970s and the full human genome was sequenced in 2003. But it is only in the past decade, as sequencing technology advanced rapidly and the price tag plummeted, that genomic medicine has started to become a reality.(a) We're finally gaining access to a huge piece...
Source: Science - The Huffington Post - October 15, 2015 Category: Science Source Type: news
Autoimmune Cerebellar Ataxia May Respond to ImmunotherapyAutoimmune Cerebellar Ataxia May Respond to Immunotherapy
A new study of patients with autoimmune cerebellar ataxia, often a complication of cancer, has found it is not always untreatable and that many patients respond well to immunotherapy, particularly if started early. Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)
Source: Medscape Neurology and Neurosurgery Headlines - September 30, 2015 Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news
Autoimmune cerebellar ataxia
(Mayo Clinic) While autoimmune cerebellar ataxia (a loss of muscle control coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may help predict better immunotherapy response, according to the Mayo Clinic study published by JAMA Neurology. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 29, 2015 Category: Global & Universal Source Type: news
Autoimmune cerebellar ataxia: Study finds treatment promises for a disease previously considered hopeless
ROCHESTER, Minn. — While autoimmune cerebellar ataxia (a loss of muscle control coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may help predict better immunotherapy response, according to the Mayo Clinic study published by JAMA Neurology. https://www.youtube.com/watch?v=tsriW0BD638 Autoimmune cerebellar ataxia in adults, which usually comes on rapidly and [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - September 29, 2015 Category: Databases & Libraries Source Type: news
Coordinating traffic down the neuronal highway
An international team of researchers has identified a protein that regulates the growth of neurons by transporting key metabolic enzymes to the tips of neural cells. Their findings open up new avenues for design of drugs for ataxia, a motor coordination disorder. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - September 18, 2015 Category: Science Source Type: news