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Article
Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia
Familial dysautonomia (FD) is caused by an intronic splice mutation in the IKBKAP gene that leads to partial skip** of exon 20 and tissue-specific reduction in I-κ-B kinase complex-associated protein/elongation...
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Article
Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome
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Article
Neuroimaging supports central pathology in familial dysautonomia
Familial dysautonomia (FD) is a hereditary peripheral and central nervous system disorder with poorly defined central neuropathology. This prospective pilot study aimed to determine if MRI would provide object...
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Article
Kinetin in Familial Dysautonomia Carriers: Implications for a New Therapeutic Strategy Targeting mRNA Splicing
Familial dysautonomia (FD) is caused by an intronic splice mutation in the IκB kinase–associated protein gene (IKBKAP) that leads to partial skip** of exon 20 and tissue-specific reduction of IκB kinase–associa...
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Article
Plasma Catechols in Familial Dysautonomia: A Long-term Follow-up Study
This study tested whether familial dysautonomia (FD) involves progressive loss of noradrenergic nerves. Plasma levels of catechols, including dihydroxyphenylglycol (DHPG), norepinephrine (NE), dopamine (DA), a...
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Article
IKBKAP mRNA in Peripheral Blood Leukocytes: A Molecular Marker of Gene Expression and Splicing in Familial Dysautonomia
The common familial dysautonomia (FD) mutation results in tissue specific mis-splicing with reduced amount of wild-type (WT) IκB kinase associated protein gene (IKBKAP) mRNA and ELP1. ELP1 is a subunit of Elongat...
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Article
Open AccessHereditary sensory and autonomic neuropathies: types II, III, and IV
The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and...
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Article
Hereditary dysautonomias: current knowledge and collaborations for the future
The hereditary dysautonomias (H-Dys) are a large group of disorders that affect the autonomic nervous system. Research in the field of H-Dys is very challenging, because the disorders involve interdisciplinar...
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Article
Genetic disorders as models to understand autonomic dysfunction
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Article
Hereditary sensory and autonomic neuropathies
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Article
Cloning, map**, and expression of a novel brain-specific transcript in the Familial Dysautonomia candidate region on Chromosome 9q31
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Article
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
Familial dysautonomia (DYS), the Riley–Day syndrome, is an autosomal recessive disorder characterized by developmental loss of neurons from the sensory and autonomic nervous system. It is limited to the Ashken...
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Article
Transient third-degree atrioventricular block in a 4-year-old child with familial dysautonomia
The case of a transient third degree atrioventricular block in a 4-year-old patient with familial dysautonomia is reported. A review of the literature follows with analysis of the significance of arrhythmias i...
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Chapter
Familial Dysautonomia and Other Congenital Sensory and Autonomic Neuropathies
Since we are concerned at this conference with neuronal development, it is appropriate to consider those human disorders that may represent aberrations in development or function. These would be the congenital...
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Chapter
Linkage Analysis in Familial Dysautonomia Using Variations in DNA Sequence in the β-Nerve Growth Factor Gene Region: A Beginning
The availability of cloned human DNA sequences combined with classic methods of genetic linkage analysis allows us to establish whether a mutation in a given gene produces an inherited disease state. In this c...
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Chapter
Regulatory dysfunction of tyrosine hydroxylase and dopamine-ß-Hydroxylase in familial dysautonomia
Arterial blood pressure (BP), heart rate (HR) and plasma concentration of norepinephrine (NE), epinephrine (EPI), dopamine (DA) and dopamine-ß-hydroxylase (DBH) were measured in ten normal and ten familial dys...
