What Problems are Ciliopathies Associated With?
Discussion
Nephronophthisis (NPHP) one cause of end-stage renal disease (ESRD) usually occurring before age 30 years. NPHP is a non-motile ciliopathy affecting cellular sensing in the renal tubular epithelium. See To Learn More below.
The incidence varies according to location with 1:1 million in the US but 1:50,000 in Finland.
There are 3 subtypes:
Infantile
Occurs usually within 1 year of life
Enlarged kidneys and severe hypertension
In utero can have oligohydramnios problems such as pulmonary hypoplasia, facial dysmorphisms, limb contractures
Extra-renal problems include congenital heart disease, liver fibrosis, recur...
Source: PediatricEducation.org - July 5, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
Larimar Therapeutics stock plunges after FDA halts clinical trial
Larimar Therapeutics' stock plummeted by more than 33% Wednesday after the U.S. Food and Drug Administration halted the Bala Cynwyd company's clinical development of its lead new drug candidate.
The FDA put a clinical hold on trials of CTI-1601, Larimar's experimental therapy for Friedreich’s ataxia, following the company's previous notification to the federal agency concerning mortalities which occurred at the highest dose levels in an ongoing 180-day non-human primate toxicology study .
In… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 26, 2021 Category: American Health Authors: John George Source Type: news
Protein linked to ALS/Ataxia could play key role in other neurodegenerative disorders
(University of Utah Health) A new study suggests that some neurological disorders share a common underlying thread. Staufen1, a protein that accumulates in the brains of patients with certain neurological conditions, is linked to amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, along with other neurological disorders, including Alzheimer's, Parkinson's, and Huntington's disease, according to University of Utah Health scientists. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 15, 2021 Category: International Medicine & Public Health Source Type: news
CUHK unveils balance between two protein counteracting forces in hereditary ataxias
(The Chinese University of Hong Kong) Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease (MJD), describes the most common form of dominantly inherited ataxia in many populations worldwide, including Hong Kong and mainland China. SCA3 or MJD patients often present problems with gait and balance, blurred vision, and speech difficulties. The symptoms are progressive, and patients may eventually decline into a bed-ridden state. To date, SCA3 or MJD remains an incurable disorder. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - February 28, 2021 Category: Biology Source Type: news
C-Path and Global Partners launch Ataxia Consortium
(Critical Path Institute (C-Path)) Critical Path Institute today announced the launch of the Critical Path to Therapeutics for the Ataxias Consortium, a public-private partnership focused on optimizing clinical trials for inherited ataxias. CPTA is a collaborative effort between C-Path, Ataxia Global Initiative, the National Ataxia Foundation, Ataxia UK and key partners in the industry and academic research communities, including Biohaven Pharmaceuticals, Ionis Pharmaceuticals, Roche Pharmaceuticals, Servier Group, Triplet Therapeutics, uniQure, and Vico Therapeutics. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 26, 2021 Category: International Medicine & Public Health Source Type: news
Deep brain stimulation and exercise restore movement in ataxia
(Baylor College of Medicine) New research from Baylor College of Medicine scientists shows that a combination of deep brain stimulation (DBS) and exercise has potential benefits for treating ataxia, a rare genetic neurodegenerative disease characterized by progressive irreversible problems with movement. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 26, 2021 Category: International Medicine & Public Health Source Type: news
Establish a nomogram to predict falls in spinocerebellar ataxia type 3 - Lin J, Zhang L, Cao B, Wei Q, Ou R, Hou Y, Xu X, Liu K, Gu X, Shang H.
PURPOSE: Falls are common and are frequently accompanied by injuries in patients with spinocerebellar ataxias type 3 (SCA3). We explored which factors could predict falls in a cohort of patients with SCA3 and developed a nomogram model to predict the first... (Source: SafetyLit)
Source: SafetyLit - February 17, 2021 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
Repeated occupational exposure to low-level blast in the Canadian armed forces: effects on hearing, balance, and ataxia - Nakashima A, Vartanian O, Rhind SG, King K, Tenn C, Jetly CR.
INTRODUCTION: Recently, there has been increasing concern about the adverse health effects of long-term occupational exposure to low-level blast in military personnel. Occupational blast exposure occurs routinely in garrison through use of armaments and co... (Source: SafetyLit)
Source: SafetyLit - January 27, 2021 Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
"Chasing the dragon": a fatal case report of toxic leucoenc éphalopathie due to inhaled heroin - Ochoa-Orozco SA, Gutiérrez-Segura JC, Coral-Leiton AM, Trejos-Orozco EA, Gutiérrez-Sanjuán I, Carvajal-Guevara JD.
BACKGROUND: Leukoencephalopathy is a myelin disorder caused by multiple agents, including substance abuse.
CASE: A 28-year-old man arrived at the emergency department having suffered from asthenia, dizziness, disorientation and ataxia for two months. H... (Source: SafetyLit)
Source: SafetyLit - December 21, 2020 Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news
COVID-19 may also invade the central nervous system, cause neurological illnesses
(Cleveland Clinic) COVID-19 is known primarily as a respiratory disease, with symptoms that include cough, shortness of breath, and, in severe cases, acute respiratory distress syndrome and pneumonia. Now, Cleveland Clinic researchers note in a recent review that infection with the coronavirus may also affect the central nervous system and cause corresponding neurological disorders, including ischemic stroke, encephalitis, encephalopathy and epileptic seizures.According to the review published in Cells, the symptoms of COVID-19-related neurological manifestations include dizziness, headache, a loss of consciousness and ata...
Source: EurekAlert! - Infectious and Emerging Diseases - December 10, 2020 Category: Infectious Diseases Source Type: news
PTC Therapeutics Announces Initiation of Global Phase 3 Clinical Trial to Evaluate Vatiquinone in Friedreich Ataxia
Third trial initiated in 2020 from compounds identified from PTC's Bio-e platform
SOUTH PLAINFIELD, N.J., Nov. 30, 2020 -- (Healthcare Sales & Marketing Network) -- PTC Therapeutics, Inc. (NASDAQ: PTCT), today announced the initiation of the registrati... Biopharmaceuticals PTC Therapeutics, vatiquinone, Friedreich ataxia (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - November 30, 2020 Category: Pharmaceuticals Source Type: news
Dizzy spells could be a warning sign that your brain is being damaged by eating BREAD
The condition, called gluten ataxia, occurs when, for reasons not fully understood, the immune system goes haywire in response to gluten in the food and attacks parts of the brain. (Source: the Mail online | Health)
Source: the Mail online | Health - November 28, 2020 Category: Consumer Health News Source Type: news
UB study identifies new functions in the Machado-Joseph genetic disease
(University of Barcelona) Ataxia is a minority disease with genetic origins, known for its neuromuscular alterations due to the selective loss of neurons in the cerebellum. University of Barcelona researchers have identified new functions in the ataxin 3 gene (ATXN3) -which causes Machado-Joseph disease, the most common type of ataxia- in the development of retina photoreceptors. These results are relevant also to understand other diseases, such as macular degenerations. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - November 25, 2020 Category: Biology Source Type: news
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
