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Dysautonomia

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https://www.readbyqxmd.com/read/28592461/rbm24-promotes-u1-snrnp-recognition-of-the-mutated-5-splice-site-in-the-ikbkap-gene-of-familial-dysautonomia
#1
Kenji Ohe, Mayumi Yoshida, Akiko Nakano-Kobayashi, Motoyasu Hosokawa, Yukiya Sako, Maki Sakuma, Yukiko Okuno, Tomomi Usui, Kensuke Ninomiya, Takayuki Nojima, Naoyuki Kataoka, Masatoshi Hagiwara
The 5' splice site mutation (IVS20+6T>C) of the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5' splice site. It is known to weaken U1 snRNP recognition and result in aberrantly spliced mRNA product in neuronal tissue, but normally spliced mRNA in other tissues. Aberrantly spliced IKBKAP mRNA abrogates IKK complex-associated protein (IKAP)/elongator protein 1 (ELP1) expression and results in a defect of neuronal cell development in FD...
June 7, 2017: RNA
https://www.readbyqxmd.com/read/28576852/neurocardiovascular-deficits-in-the-q175-mouse-model-of-huntington-s-disease
#2
Tamara S Cutler, Saemi Park, Dawn H Loh, Maria C Jordan, Tomohiro Yokota, Kenneth P Roos, Cristina A Ghiani, Christopher S Colwell
Cardiovascular dysautonomia as well as the deterioration of circadian rhythms are among the earliest detectable pathophysiological changes in individuals with Huntington's disease (HD). Preclinical research requires mouse models that recapitulate disease symptoms and the Q175 knock-in model offers a number of advantages but potential autonomic dysfunction has not been explored. In this study, we sought to test the dual hypotheses that cardiovascular dysautonomia can be detected early in disease progression in the Q175 model and that this dysfunction varies with the daily cycle...
June 2017: Physiological Reports
https://www.readbyqxmd.com/read/28554413/the-nonmotor-features-of-parkinson-s-disease
#3
Nataliya Titova, Mubasher A Qamar, K Ray Chaudhuri
Nonmotor symptoms (NMS) of Parkinson's disease (PD) were recognized by the great James Parkinson himself who mentioned symptoms such as sleep dysfunction, delirium, dementia, and dysautonomia, in his seminal 1817 essay, "An Essay on the Shaking Palsy" (Parkinson, 1817). In spite of the key impact of PD NMS on quality of life, there was little holistic research and awareness till the validation and use of comprehensive tools such as the NMS questionnaire, scale, and the revised version of the unified PD rating scale...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28553323/phosphatidylserine-improves-axonal-transport-by-inhibition-of-hdac-and-has-potential-in-treatment-of-neurodegenerative-diseases
#4
REVIEW
Shiran Naftelberg, Gil Ast, Eran Perlson
Familial dysautonomia (FD) is a rare children neurodegenerative disease caused due to a point mutation in the IKBKAP gene that results in decreased IKK complex-associated protein (IKAP) protein production. The disease affects mostly the dorsal root ganglion (DRG) and the sympathetic ganglion. Recently, we found that the molecular mechanisms underlying neurodegeneration in FD patients are defects in axonal transport of nerve growth factors and microtubule stability in the DRG. Neurons are highly polarized cells with very long axons...
April 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28550263/microglial-and-neuronal-tdp-43-pathology-in-anti-iglon5-related-tauopathy
#5
Annachiara Cagnin, Sara Mariotto, Michele Fiorini, Marina Gaule, Nicola Bonetto, Matteo Tagliapietra, Emanuele Buratti, Gianluigi Zanusso, Sergio Ferrari, Salvatore Monaco
A novel neuronal tauopathy, mainly confined to hypothalamus and brainstem tegmentum, has recently been reported in patients with autoantibodies to the neuronal cell-adhesion molecule IgLON5. We describe a patient with anti-IgLON5 syndrome, who presented with dysautonomia and sleep disorder, followed by subacute dementia. Postmortem brain examination disclosed neuronal tau pathology prevailing in the hippocampus, amygdala, and locus coeruleus, in addition to microglial/neuronal TDP-43 pathology, with overexpression of aberrantly phosphorylated forms and neurotoxic truncated fragments, in basal ganglia, nucleus basalis, thalamus, and midbrain...
May 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28549077/clinical-criteria-for-subtyping-parkinson-s-disease-biomarkers-and-longitudinal-progression
#6
Seyed-Mohammad Fereshtehnejad, Yashar Zeighami, Alain Dagher, Ronald B Postuma
Parkinson's disease varies widely in clinical manifestations, course of progression and biomarker profiles from person to person. Identification of distinct Parkinson's disease subtypes is of great priority to illuminate underlying pathophysiology, predict progression and develop more efficient personalized care approaches. There is currently no clear way to define and divide subtypes in Parkinson's disease. Using data from the Parkinson's Progression Markers Initiative, we aimed to identify distinct subgroups via cluster analysis of a comprehensive dataset at baseline (i...
May 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#7
REVIEW
Eliyahu Mass
The oro-dento-facial features and dysfunctions of children with hereditary sensory and autonomic neuropathy type III (HSAN III), known as familial dysautonomia (FD) or Riley-Day syndrome, were first described in the scientific literature in 1949. They include: dental trauma, dental and soft tissue selfmutilation, normal dental age, normal sequence and timing of eruption and exfoliation of teeth, smaller tooth size, different and disproportional tooth components, normal alveolar bone height, small jaws, mild crowding and malocclusion...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28527262/-autoimmune-encephalitis-associated-to-antibodies-against-the-n-methyl-d-aspartate-receptor-report-of-two-cases
#8
José Bustos, Yasmin Sánchez, Jhon Medina, Rommy Olivieri, Julián Mojica, Johan Ortiz
Anti-N-methyl-D-aspartate receptor encephalitis is a neurological syndrome that is more common in young women and is often associated with ovarian teratoma. It is characterized by acute general unspecific symptoms that evolve to neurological deterioration, psychosis and seizures. In its more advanced stage it is associated with abnormal movements and dysautonomia.We report two cases in women of 23 and 12 years of age. Given its low incidence, we present the clinical exercise that led to their diagnoses and the treatment options employed...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28525326/short-term-heart-rate-variability-in-dogs-with-sick-sinus-syndrome-or-chronic-mitral-valve-disease-as-compared-to-healthy-controls
#9
Sz Bogucki, A Noszczyk-Nowak
Heart rate variability is an established risk factor for mortality in both healthy dogs and animals with heart failure. The aim of this study was to compare short-term heart rate variability (ST-HRV) parameters from 60-min electrocardiograms in dogs with sick sinus syndrome (SSS, n=20) or chronic mitral valve disease (CMVD, n=20) and healthy controls (n=50), and to verify the clinical application of ST-HRV analysis. The study groups differed significantly in terms of both time - and frequency- domain ST-HRV parameters...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28521050/sudden-unexpected-death-during-sleep-in-familial-dysautonomia-a-case-control-study
#10
Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Miguel A Perez, Christy L Spalink, Horacio Kaufmann
Study Objectives: Sudden unexpected death during sleep (SUDS) is the most common cause of death in patients with familial dysautonomia, an autosomal recessive disease characterized by sensory and autonomic dysfunction. It remains unknown what causes SUDS in these patients and who is at highest risk. We tested the hypothesis that SUDS in FD is linked to sleep-disordered breathing. Methods: We retrospectively identified patients with familial dysautonomia who died suddenly and unexpectedly during sleep and had undergone polysomnography within the 18-month period prior to death...
May 18, 2017: Sleep
https://www.readbyqxmd.com/read/28506086/invasive-cardiopulmonary-exercise-testing-in-the-evaluation-of-unexplained-dyspnea-insights-from-a-multidisciplinary-dyspnea-center
#11
Wei Huang, Stephen Resch, Rudolf Kf Oliveira, Barbara A Cockrill, David M Systrom, Aaron B Waxman
Background Unexplained dyspnea is a common diagnosis that often results in repeated diagnostic testing and even delayed treatments while a determination of the cause is being investigated. Through a retrospective study, we evaluated the diagnostic efficacy of a multidisciplinary dyspnea evaluation center (MDEC) using invasive cardiopulmonary exercise test to diagnose potential causes of unexplained dyspnea. Methods We reviewed the medical records of all patients referred with unexplained dyspnea to the MDEC between March 2011 and October 2014...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28491761/use-of-biotronik-closed-loop-pacemaker-to-treat-recurrent-syncope-in-pediatric-patient-with-dysautonomia
#12
Jennfier Shortland, Orhan Uzun, Deirdre Wilson, Graham A Stuart, Mark A Walsh
No abstract text is available yet for this article.
January 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28477426/optimising-physiology-for-adolescents-with-dysautonomia
#13
LETTER
Karen Thaxter Nesbeth
No abstract text is available yet for this article.
May 6, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28471954/sympathetic-skin-response-and-heart-rate-variability-in-predicting-autonomic-disorders-in-patients-with-parkinson-disease
#14
Jiang-Qiong Ke, Sheng-Min Shao, Yuan-Yuan Zheng, Fang-Wang Fu, Guo-Qing Zheng, Chun-Feng Liu
The purpose of this study was to evaluate sympathetic skin response (SSR) and heart rate variability (HRV) in determining autonomic nervous system (ANS) involvement in patients with Parkinson disease (PD). Forty-eight idiopathic PD patients and 30 healthy controls participated in this study. SSR, HRV, Unified Parkinson's Disease Rating Scale (UPDRS) III, the Scales for outcomes in Parkinson's Disease-Autonomic (SCOPA-AUT), Hoehn and Yahr (H&Y) scale were evaluated. Absent lower limb SSR was determined unilaterally in 2, bilaterally in 1 of 3 advanced PD patients; there was significant difference between PD and control groups in terms of the SSR (P < 0...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28471773/effect-of-atropine-premedication-on-cardiac-autonomic-function-during-electroconvulsive-therapy-a-randomized-crossover-study
#15
Tanmay Jadhav, Kamath Sriganesh, Jagadisha Thirthalli, K R Madhusudan Reddy, Sudhir Venkataramaiah, Mariamma Philip, Channaveerachari Naveen Kumar, Shyam Sundar Armugham
OBJECTIVES: Electroconvulsive therapy (ECT) results in significant cardiovascular changes. The acute cardiac autonomic changes during ECT remain unexplored. The primary objective of this study was to compare autonomic dysfunction with and without atropine premedication during ECT and secondarily to evaluate dysautonomia across psychiatric diagnoses before and after ECT. METHODS: In this crossover study, 41 psychiatric patients were monitored during 82 ECT sessions...
May 2, 2017: Journal of ECT
https://www.readbyqxmd.com/read/28452849/ipilimumab-induced-guillain-barr%C3%A3-syndrome-presenting-as-dysautonomia-an-unusual-presentation-of-a-rare-complication-of-immunotherapy
#16
W Kelly Wu, Kristy K Broman, Evan R Brownie, Rondi M Kauffmann
Immune-related adverse events are common and well-documented in patients treated with ipilimumab, a cytotoxic T-lymphocyte antigen-4 monoclonal antibody approved for the treatment of metastatic and stage III melanoma. Neurological complications are rare, but widely variable and potentially devastating. Here, we discuss a case of a patient who was treated with a single dose of ipilimumab for resected stage III melanoma. She subsequently developed pandysautonomia that manifested as a tonically dilated pupil, gastrointestinal dysmotility, urinary retention, and profound orthostatic hypotension...
June 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/28439028/bgp-15-prevents-the-death-of-neurons-in-a-mouse-model-of-familial-dysautonomia
#17
Sarah B Ohlen, Magdalena L Russell, Michael J Brownstein, Frances Lefcort
Hereditary sensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance in Man (OMIM) 223900], affects the development and long-term viability of neurons in the peripheral nervous system (PNS) and retina. FD is caused by a point mutation in the gene IKBKAP/ELP1 that results in a tissue-specific reduction of the IKAP/ELP1 protein, a subunit of the Elongator complex. Hallmarks of the disease include vasomotor and cardiovascular instability and diminished pain and temperature sensation caused by reductions in sensory and autonomic neurons...
May 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28419566/perirhinal-accumulation-of-neuronal-alpha-synuclein-in-a-multiple-system-atrophy-patient-with-dementia
#18
Mari Saito, Makoto Hara, Momoko Ebashi, Akihiko Morita, Kyoko Okada, Taku Homma, Masahiko Sugitani, Kentaro Endo, Toshiki Uchihara, Satoshi Kamei
We report the case of a 79-year-old Japanese woman who developed cerebellar ataxia followed by rigidity, dysautonomia and cognitive disorders, and was thus clinically diagnosed as having possible MSA with dementia. Neuropathological findings demonstrated not only olivopontocerebellar and striatonigral degeneration with frequent glial cytoplasmic inclusions (GCIs), but also degenerative changes in the parahippocampal region, accentuated in the anterior portion of perirhinal cortex, where neuronal cytoplasmic inclusions (NCIs) and NFTs were numerous while GCIs were limited...
April 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28413125/transient-dysautonomia-in-an-acute-phase-of-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#19
Yuko Ichimiya, Noriyuki Kaku, Yasunari Sakai, Fumiya Yamashita, Wakato Matsuoka, Mamoru Muraoka, Satoshi Akamine, Soichi Mizuguchi, Michiko Torio, Yoshitomo Motomura, Yuichiro Hirata, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Hidetoshi Takada, Yoshihiko Maehara, Shouichi Ohga
Paroxysmal sympathetic hyperactivity (PSH) is a dysautonomic condition that is associated with various types of acquired brain injuries. Traumatic brain lesions have been documented as the leading cause of PSH. However, detailed clinical features of pediatric PSH caused by intrinsic brain lesions remain to be elusive. We present a 3-year-old boy, who had been diagnosed as having cerebral palsy, developmental delay and epilepsy after perinatal hypoxia-induced brain injury. He developed status epilepticus with fever on the third day of respiratory infection...
April 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28404519/proteasome-inhibitors-to-alleviate-aberrant-ikbkap-mrna-splicing-and-low-ikap-help1-synthesis-in-familial-dysautonomia
#20
Mylène Hervé, El Chérif Ibrahim
FD is a rare neurodegenerative disorder caused by a mutation of the IKBKAP gene, which induces low expression levels of the Elongator subunit IKAP/hELP1 protein. A rational strategy for FD treatment could be to identify drugs increasing IKAP/hELP1 expression levels by blocking protein degradation pathways such as the 26S proteasome. Proteasome inhibitors are promising molecules emerging in cancer treatment and could thus constitute an enticing pharmaceutical strategy for FD treatment. Therefore, we tested three proteasome inhibitors on FD human olfactory ecto-mesenchymal stem cells (hOE-MSCs): two approved by the Food and Drug Administration (FDA) and European Medicines Agency (EMA), bortezomib and carfilzomib, as well as epoxomicin...
April 9, 2017: Neurobiology of Disease
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