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?
Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births. The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several diff...
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 sequencing,’” she said. “We were luc...
Source: UCLA Newsroom: Health Sciences - July 18, 2017 Category: Universities & Medical Training Source Type: news