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Autonomic Nervous System Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Major component of autonomic failure: Diabetes.Acute inflammatory polyradiculopathy (Guillain–Barré syndrome).Acute intermittent porphyria.Primary and secondary amyloidosis.Familial dysautonomia (hereditary sensory and autonomic neuropathy).Sjögren's syndrome and, rarely, other connective tissue disorders.Chronic idiopathic sensory and autonomic neuropathy.
Unusual Inherited Pulmonary Diseases Which Provide Clues to Pulmonary Physiology and Function
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Thomas Κ. C. King, Robert A. Norum
The recurrence of this disease in siblings suggested a genetic etiology. Equal numbers of males and females develop familial dysautonomia. The parents of affected children show no sign of the disease; most patients do not survive to reproductive age and no data are available on the occurrence of dysautonomia in the children of people with this disease. These characteristics of the pedigree pattern are consistent with autosomal recessive inheritance (see Chapter 1) and that hypothesis has been further tested by the enumeration of affected and unaffected siblings in the sibships. From Mendel's laws we expect that one-fourth of the children of parents who are both carriers of the gene will be homozygous and thus show the dysautonomia phenotype. But the only way we can identify these carrier couples is via an affected child. Thus, all couples who by chance have had no affected child will be overlooked and their children, who are unaffected, will not be counted. This biased ascertainment of sibships must be compensated for when the predictions of Mendel's laws for an autosomal recessive phenotype are examined. When the appropriate compensation is made in the case of dysautonomia the ratio of affected to unaffected children closely fits Mendel's prediction [5].
Peripheral Autonomic Neuropathies
Published in David Robertson, Italo Biaggioni, Disorders of the Autonomic Nervous System, 2019
Other inherited diseases can produce the clinical manifestations of familial dysautonomia. If the diagnosis is to be made in acutely ill infants, this possibility should be kept in mind. Hyperammonemia, due to propionyl-coenzyme-A carboxylase deficiency, is an example of metabolic abnormality that can produce phenocopies of familial dysautonomia. (Harris et al., 1980) The diagnosis of familial dysautonomia in infants depends on abnormal responses to intracutaneous histamine and methacholine (absence of flare component of triple response of Lewis that depends on intact small myelinated pain afferents) and abnormal urinary catecholamine excretion. In the infants with hyperammonemia, however, appropriate dietary manipulation results in reversal of the clinical symptoms.
Strategies for targeting RNA with small molecule drugs
Published in Expert Opinion on Drug Discovery, 2023
Christopher L. Haga, Donald G. Phinney
RNA splicing is a complicated key regulatory step in the generation of the diverse repertoire of human proteins from the limited protein-coding genome. The splicing process is carried out in the spliceosome, a large complex consisting of hundreds of proteins, snRNAs, and five small nuclear ribonucleoproteins (snRNP) which act in concert to bind and remove intronic sequences [63]. The vast majority of protein-coding transcripts undergo such carefully orchestrated splicing events. However, when pre-mRNA processing and splicing deviate from the norm, splicing disorders can occur. Because every intron-containing gene requires a certain level of processing and splicing, mutations falling within a canonical splice site can lead to aberrant gene translation and potentially to disease. Two such well-explored diseases concerning small molecule RNA targeting are familial dysautonomia (FD) and spinal muscular atrophy (SMA).
Susceptibility to diarrhea is related to hemodynamic markers of sympathetic activation in the general population
Published in Scandinavian Journal of Gastroenterology, 2019
Viktor Hamrefors, Artur Fedorowski, Bodil Ohlsson
Independent of primary or secondary associations, neither the present nor previous studies support that a great part of the IBS population has developed the disease because of a primary autonomic dysfunction [8,25]. Familial dysautonomia often presents itself with dysphagia, esophageal dysmotility and vomiting [16]. Thus, the symptoms are not similar to classical functional GI symptoms [1]. Impaired baroreflex pathways have been found in familial dysautonomia [31], which is not supported in our cohort with a very low prevalence of orthostatic hypotension. The found association between gene mutations of IKBKAP and self-reported IBS may reflect that many patients with GI symptoms are not properly examined [15], and could have other diagnoses of autonomic dysautonomia with secondary GI symptoms [9–11].
Targeting GSK3 signaling as a potential therapy of neurodegenerative diseases and aging
Published in Expert Opinion on Therapeutic Targets, 2018
Przemysław Duda, Janusz Wiśniewski, Tomasz Wójtowicz, Olga Wójcicka, Michał Jaśkiewicz, Dominika Drulis-Fajdasz, Dariusz Rakus, James A. McCubrey, Agnieszka Gizak
It has been shown that in mice, the microtubule-associated protein Tau gene co-varied with many neurodegeneration-related genes, including: Gsk3b, Falz, Apbb2, Slc1a3, Ntrk2, Pik3ca, Ikbkap [148]. Correlation of expression between Mapt, Gsk3b and Ikbkap may suggest a role of GSK3β in pathogenesis of familial dysautonomia (FD), a genetic neurodegenerative disorder primarily affecting individuals of Ashkenazi Jewish descent. Additionally, inhibition of GSK3 with lithium chloride has been shown to ameliorate some behavioral impairment in mice with Fmr1 deletion, a model of fragile X syndrome (FXS) and autism spectrum disorders [149].