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Familial 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/28553323/phosphatidylserine-improves-axonal-transport-by-inhibition-of-hdac-and-has-potential-in-treatment-of-neurodegenerative-diseases
#2
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/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#3
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/28521050/sudden-unexpected-death-during-sleep-in-familial-dysautonomia-a-case-control-study
#4
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/28439028/bgp-15-prevents-the-death-of-neurons-in-a-mouse-model-of-familial-dysautonomia
#5
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/28404519/proteasome-inhibitors-to-alleviate-aberrant-ikbkap-mrna-splicing-and-low-ikap-help1-synthesis-in-familial-dysautonomia
#6
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
https://www.readbyqxmd.com/read/28395083/pathological-confirmation-of-optic-neuropathy-in-familial-dysautonomia
#7
Carlos E Mendoza-Santiesteban, Jose-Alberto Palma, Thomas R Hedges, Nora V Laver, Nada Farhat, Lucy Norcliffe-Kaufmann, Horacio Kaufmann
Clinical data suggest that optic neuropathy and retinal ganglion cell loss are the main cause of visual decline in patients with familial dysautonomia, but this has not previously been confirmed by pathological analyses. We studied retinas and optic nerves in 6 eyes from 3 affected patients obtained at autopsy. Analyses included routine neurohistology and immunohistochemistry for neurofilaments, cytochrome c oxidase (COX), and melanopsin-containing ganglion cells. We observed profound axon loss in the temporal portions of optic nerves with relative preservation in the nasal portions; this correlated with clinical and optical coherence tomography findings in 1 patient...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28324299/fatal-familial-insomnia-clinical-aspects-and-molecular-alterations
#8
REVIEW
Franc Llorens, Juan-José Zarranz, Andre Fischer, Inga Zerr, Isidro Ferrer
PURPOSE OF REVIEW: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28167615/the-familial-dysautonomia-disease-gene-ikbkap-is-required-in-the-developing-and-adult-mouse-central-nervous-system
#9
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit (ELP1) for a multi-subunit complex known as Elongator. Since mutations in other Elongator subunits (ELP2 to ELP4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential requirement for Ikbkap in the CNS of mice...
May 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28161223/genetic-polymorphisms-in-the-esr1-and-vdr-genes-do-not-correlate-with-osteoporosis-in-patients-with-familial-dysautonomia
#10
David Cheishvili, Channa Maayan, Daniel M Sapozhnikov, Elad Lax, Rivka Dresner-Pollak
One of the major clinical manifestations of familial dysautonomia (FD)-a rare, neurodegenerative, autosomal-recessive disorder-is a high incidence and early onset of osteoporotic bone fractures. Early diagnosis is essential to initiate preventative therapy in at-risk patients and thus improve quality of life. However, the current lack of understanding of the complex relationship between FD and osteoporosis etiology precludes early diagnosis, and as such, accurate predictors of osteoporosis development in FD patients remain to be determined...
February 1, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28027135/caring-for-adolescents-with-familial-dysautonomia
#11
Richard D Keegan
No abstract text is available yet for this article.
January 2017: Nursing
https://www.readbyqxmd.com/read/27997532/phosphatidylserine-ameliorates-neurodegenerative-symptoms-and-enhances-axonal-transport-in-a-mouse-model-of-familial-dysautonomia
#12
Shiran Naftelberg, Ziv Abramovitch, Shani Gluska, Sivan Yannai, Yuvraj Joshi, Maya Donyo, Keren Ben-Yaakov, Tal Gradus, Jonathan Zonszain, Chen Farhy, Ruth Ashery-Padan, Eran Perlson, Gil Ast
Familial Dysautonomia (FD) is a neurodegenerative disease in which aberrant tissue-specific splicing of IKBKAP exon 20 leads to reduction of IKAP protein levels in neuronal tissues. Here we generated a conditional knockout (CKO) mouse in which exon 20 of IKBKAP is deleted in the nervous system. The CKO FD mice exhibit developmental delays, sensory abnormalities, and less organized dorsal root ganglia (DRGs) with attenuated axons compared to wild-type mice. Furthermore, the CKO FD DRGs show elevated HDAC6 levels, reduced acetylated α-tubulin, unstable microtubules, and impairment of axonal retrograde transport of nerve growth factor (NGF)...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27855745/sleep-apnea-in-familial-dysautonomia-a-reflection-of-apnea-pathogenesis
#13
Jeremy E Orr, Naomi Deacon, John Ravits
No abstract text is available yet for this article.
December 15, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27847465/the-many-faces-of-elongator-in-neurodevelopment-and-disease
#14
REVIEW
Marija Kojic, Brandon Wainwright
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons. Malfunction of these highly regulated and coordinated events results in various neurological diseases. The Elongator complex is a multi-subunit complex highly conserved in eukaryotes whose function has been implicated in the majority of cellular activities underlying neurodevelopment...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27793437/familial-amyloidosis-with-polyneuropathy-type-1-caused-by-transthyretin-mutation-val50met-val30met-4-cases-in-a-non-endemic-area
#15
N Andrés, J J Poza, J F Martí Massó
INTRODUCTION: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. OBJECTIVES AND METHODS: We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease...
October 26, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/27752785/dexmedetomidine-for-refractory-adrenergic-crisis-in-familial-dysautonomia
#16
Ryan C Dillon, Jose-Alberto Palma, Christy L Spalink, Diana Altshuler, Lucy Norcliffe-Kaufmann, David Fridman, John Papadopoulos, Horacio Kaufmann
OBJECTIVE: Adrenergic crises are a cardinal feature of familial dysautonomia (FD). Traditionally, adrenergic crises have been treated with the sympatholytic agent clonidine or with benzodiazepines, which can cause excessive sedation and respiratory depression. Dexmedetomidine is a centrally-acting α 2-adrenergic agonist with greater selectivity and shorter half-life than clonidine. We evaluated the preliminary effectiveness and safety of intravenous dexmedetomidine in the treatment of refractory adrenergic crisis in patients with FD...
February 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/27749843/elevated-basal-serum-tryptase-identifies-a-multisystem-disorder-associated-with-increased-tpsab1-copy-number
#17
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27716661/genetic-prion-disease-caused-by-prnp-q160x-mutation-presenting-with-an-orbitofrontal-syndrome-cyclic-diarrhea-and-peripheral-neuropathy
#18
Jamie C Fong, Julio C Rojas, Jee Bang, Andrea Legati, Katherine P Rankin, Sven Forner, Zachary A Miller, Anna M Karydas, Giovanni Coppola, Carrie K Grouse, Jeffrey Ralph, Bruce L Miller, Michael D Geschwind
Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including those with dysautonomia and peripheral neuropathy. We describe the neurological, cognitive, neuroimaging, and electrophysiological features of a 31-year-old man presenting with an orbitofrontal syndrome, gastrointestinal symptoms, and peripheral neuropathy associated with PRNP Q160X nonsense mutation, with symptom onset at age 27...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27699209/loss-of-ikbkap-causes-slow-progressive-retinal-degeneration-in-a-mouse-model-of-familial-dysautonomia
#19
Yumi Ueki, Grisela Ramirez, Ernesto Salcedo, Maureen E Stabio, Frances Lefcort
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina, we generated Ikbkap conditional knockout (CKO) mice using a TUBA1a promoter-Cre (Tα1-Cre). In the retina, Tα1-Cre expression is detected predominantly in retinal ganglion cells (RGCs)...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27672840/poster-72-teetering-on-the-edge-rehabilitation-in-a-medically-complex-patient-with-familial-dysautonomia-hereditary-sensory-autonomic-neuropathy-type-iii-a-case-report
#20
Derek J Ho, Daniel J Kao, Tracy Espiritu
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
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