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Familial dysautonomia

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...
October 17, 2016: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
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...
October 17, 2016: Nature Genetics
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...
October 4, 2016: Journal of Alzheimer's Disease: JAD
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
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
Cristina Fuente Mora, Jose-Alberto Palma, Horacio Kaufmann, Lucy Norcliffe-Kaufmann
Familial dysautonomia is an inherited autonomic disorder with afferent baroreflex failure. We questioned why despite low blood pressure standing, surprisingly few familial dysautonomia patients complain of symptomatic hypotension or have syncope. Using transcranial Doppler ultrasonography of the middle cerebral artery, we measured flow velocity (mean, peak systolic, and diastolic), area under the curve, pulsatility index, and height of the dictrotic notch in 25 patients with familial dysautonomia and 15 controls...
September 9, 2016: Journal of Cerebral Blood Flow and Metabolism
Paula Dietrich, Ioannis Dragatsis
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are already present at birth and are attributed to abnormal development and progressive degeneration of the sensory and autonomic nervous systems. Despite clinical interventions, the disease is inevitably fatal...
August 4, 2016: Genetics and Molecular Biology
Albrecht Günther, Julia Schubert, Dirk Brämer, Otto Wilhelm Witte
Autoimmune encephalitis, an inflammatory disease of the brain, is usually attributed to antibody-mediated damage and dysfunction of neuronal structures. A distinction is made between onconeuronal antibodies (directed against intracellular neuronal antigens with resulting paraneoplastic neurological syndromes) and antibodies directed against neuronal cell surface proteins (with resulting synaptic encephalopathies). Anti-NMDA-Receptor-Encephalitis, the most common form of autoimmune encephalopathy, is characterized by a phased course of disease...
August 2016: Deutsche Medizinische Wochenschrift
Ionuţ Isaia Jeican, Gabriela Ichim, Dan Gheban
The article reviews the intestinal ischemia theme on newborn and children. The intestinal ischemia may be either acute - intestinal infarction (by vascular obstruction or by reduced mesenteric blood flow besides the occlusive mechanism), either chronic. In neonates, acute intestinal ischemia may be caused by aortic thrombosis, volvulus or hypoplastic left heart syndrome. In children, acute intestinal ischemia may be caused by fibromuscular dysplasia, volvulus, abdominal compartment syndrome, Burkitt lymphoma, dermatomyositis (by vascular obstruction) or familial dysautonomia, Addison's disease, situs inversus abdominus (intraoperative), burns, chemotherapy administration (by nonocclusive mesenteric ischemia)...
2016: Clujul Medical (1957)
Paula Dietrich, Ioannis Dragatsis
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are already present at birth and are attributed to abnormal development and progressive degeneration of the sensory and autonomic nervous systems. Despite clinical interventions, the disease is inevitably fatal...
August 4, 2016: Genetics and Molecular Biology
Aleksandra Gergont
UNLABELLED: The aims of the study was to establish current knowledge regarding the involvement of autonomic nervous system (ANS) in paroxysmal disorders in children and available diagnostic tools. MATERIAL AND METHODS: Using key words ANS, epilepsy, syncope and breath-holding spells the search was performed in collections of Elsevier and Springer Journals, as well as MEDLINE/PubMed. RESULTS: Manifestation of ANS dysfunction may constitute the group of leading symptoms and signs of many diseases, including epilepsy with autonomic attacks and familial dysautonomia...
2016: Przegla̧d Lekarski
Lucy Norcliffe-Kaufmann, Susan A Slaugenhaupt, Horacio Kaufmann
Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in the IKBKAP gene. The mutation arose in the 1500s within the small Jewish founder population in Eastern Europe and became prevalent during the period of rapid population expansion within the Pale of Settlement. The carrier rate is 1:32 in Jews descending from this region. The mutation results in a tissue-specific deficiency in IKAP, a protein involved in the development and survival of neurons. Patients homozygous for the mutations are born with multiple lesions affecting mostly sensory (afferent) fibers, which leads to widespread organ dysfunction and increased mortality...
June 15, 2016: Progress in Neurobiology
David Cheishvili, Channa Maayan, Naama Holzer, Jeanna Tsenter, Elad Lax, Sophie Petropoulos, Aharon Razin
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy, primarily presented in Ashkenazi Jews. The most common mutation in FD patients results from a single base pair substitution of an intronic splice site in the IKBKAP gene which disrupts normal mRNA splicing and leads to tissue-specific reduction of IKBKAP protein (IKAP). To date, treatment of FD patients remains preventative, symptomatic and supportive. Based on previous in vitro evidence that tocotrienols, members of the vitamin E family, upregulate transcription of the IKBKAP gene, we aimed to investigate whether a similar effects was observed in vivo...
July 2016: Journal of Molecular Neuroscience: MN
José Castro, Bruno Miranda, Isabel Castro, Mamede de Carvalho, Isabel Conceição
OBJECTIVE: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an axonal sensory-motor and autonomic neuropathy. Reliable quantification of sudomotor function could prove essential in the diagnosis and early treatment management. We aim to assess the diagnostic value of a new sudomotor test (Sudoscan) in TTR-FAP. METHODS: One hundred and thirty-three TTR-FAP Val30Met carriers, divided in asymptomatic and symptomatic stage 1, were compared with 37 healthy controls...
May 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Mika H Martikainen, Markku Päivärinta, Marja Hietala, Valtteri Kaasinen
OBJECTIVE: To describe the clinical features and brain imaging findings of autosomal dominant Parkinson disease (PD) associated with a recently reported mutation in SNCA. METHODS: A Finnish family with PD in 3 successive generations, in accordance with an autosomal dominant inheritance pattern, was identified. We examined 2 available members of the family, the female proband and her daughter (both with early-onset PD), clinically and using dopamine transporter imaging ([(123)I]FP-CIT SPECT)...
December 2015: Neurology. Genetics
Olivier Lidove, Valérie Zeller, Valérie Chicheportiche, Vanina Meyssonnier, Thomas Sené, Sophie Godot, Jean-Marc Ziza
OBJECTIVES: Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available...
July 2016: Joint, Bone, Spine: Revue du Rhumatisme
A Martín-Gallego, I Andrade-Andrade, M S Dawid-Milner, M Domínguez-Páez, L Romero-Moreno, L González-García, A Carrasco-Brenes, M Segura-Fernández-Nogueras, B Ros-López, M A Arráez-Sánchez
We report the case of a 9-year-old male patient with a recurrent fourth ventricle anaplastic ependymoma who developed severe arterial hypertension and blood pressure lability during and after surgery. A punctual bilateral lesion located within mid dorsal medulla oblongata caused by both infiltration and surgical resection was observed in postoperative MRI. Three years later, the patient remained neurologically stable but the family referred the presence of a chronic tachycardia as well as palpitations and sweating with flushing episodes related to environmental stress...
January 2016: Autonomic Neuroscience: Basic & Clinical
Michael D Geschwind
PURPOSE OF REVIEW: This article presents an update on the clinical aspects of human prion disease, including the wide spectrum of their presentations. RECENT FINDINGS: Prion diseases, a group of disorders caused by abnormally shaped proteins called prions, occur in sporadic (Jakob-Creutzfeldt disease), genetic (genetic Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia), and acquired (kuru, variant Jakob-Creutzfeldt disease, and iatrogenic Jakob-Creutzfeldt disease) forms...
December 2015: Continuum: Lifelong Learning in Neurology
Gali Heimer, Danit Oz-Levi, Eran Eyal, Shimon Edvardson, Andreea Nissenkorn, Elizabeth K Ruzzo, Amir Szeinberg, Channa Maayan, Meir Mai-Zahav, Ori Efrati, Elon Pras, Haike Reznik-Wolf, Doron Lancet, David B Goldstein, Yair Anikster, Stavit A Shalev, Orly Elpeleg, Bruria Ben Zeev
BACKGROUND: TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic paraparesis (SPG49). RESULTS: We report here 3 additional patients from unrelated non-Bukharian families, harboring two novel mutations (c.1319delT, c.C566T) in this gene. Accumulating clinical data clarifies that in addition to intellectual disability and evolving spasticity the main disabling feature of this unique disorder is autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events...
January 2016: European Journal of Paediatric Neurology: EJPN
Frances Lefcort, Marta Chaverra, Lynn George, George Carleson, Miranda Orr, Andrea Grindeland
No abstract text is available yet for this article.
December 2015: International Journal of Developmental Neuroscience
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