Familial dysautonomia
Use of vaccinia virus vectors to study protein processing in human disease Normal nerve growth factor processing and secretion in cultured fibroblasts from patients with familial dysautonomia
... Familial dysautonomia is a hereditary disorder that affects autonomic and sensory neurons. Nerve growth factor (NGF) is required for the normal development of sympathetic and sensory neurons and it has been ...
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Decreased noradrenaline (norepinephrine) synthesis in familial dysautonomia
... Noradrenaline synthesis and metabolism of dopamine was evaluated in three patients with familial dysautonomia and compared with that of six normal subjects. Each patient and subject was infused with 104.8 ...
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Taste Discrimination in Familial Dysautonomia
... Taste perception aild discrimination is de- ficient in patients with familial dysautonomia. No deficiency was evident in parents of chil- dren with dysautonomia.. ALFRED A. SMITH, M.D.[r] ...
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Nerves in the Skin of a Patient with Familial Dysautonomia (Riley-Day Syndrome)
... Nerves in the Skin of a Patient with Familial Dysautonomia (Riley-Day Syndrome). Services[r] ...
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<em>IKBKAP/ELP1</em> gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
... Familial dysautonomia (FD, OMIM #223900), also known as Riley–Day syndrome, is an autosomal recessive congenital neuropathy that affects the development and sur- vival of sensory and autonomic ...
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THE TONGUE AND TASTE IN FAMILIAL DYSAUTONOMIA
... ABSTRACT. The extreme paucity of subcutaneous sensory nerves in the small tongue of a 1-year-old child with familial dysautonomia was correlated with the absence of taste buds in the lig[r] ...
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A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation
... Ablation of Elp1 in fate-specified sympathetic neurons resulted in similar neuron survival and target tissue abnormalities, confirming that Elp1 has a sympathetic neuron autonomous role [r] ...
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Plasma Renin Activity in Familial Dysautonomia: Unresponsiveness to a β-Adrenergic Blocker
... treatment with propranolol, as well as the abnormal response to a low-salt diet2 shown in FD patients, creates doubts as to whether the effects of postural change and a low-salt diet act[r] ...
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FAMILIAL DYSAUTONOMIA DIFFERENTIATED FROM RELATED DISORDERS
... seems appropriate to report, by way of con- trast, two cases which show evidence of au- tonomic dysfunction including several “typ- ical” specific features but which lack some of the “es[r] ...
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EXCRETION OF CATECHOLAMINE METABOLITES BY CHILDREN WITH FAMILIAL DYSAUTONOMIA
... Parents of dysautonomic subjects excreted normal amounts of vanillylmandelic acid and homovanillic acid.. Pedi-.[r] ...
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FAMILIAL DYSAUTONOMIA
... tex, was suggested because the tongue- biting was present only with fever at which time the symptoms of autonomic dysfunc- tion were most pronounced. Such seizures, described by Penfield[r] ...
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RESPONSES TO INFUSED METHACHOLINE IN FAMILIAL DYSAUTONOMIA
... The effect of methacholine infusion on the systolic pressure of control and dysautonomic subjects. The dosage of methacholine was raised progressively at intervals of 5-10 minutes and th[r] ...
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Intellectual Development and Familial Dysautonomia
... The study examined adaptive trends in cogni- tive development among individuals with familial dysauto- nomia and sought to establish new base rates of intelligence for the dysautonomic p[r] ...
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Progressive Sensory Loss in Familial Dysautonomia
... myelinated axons.67 The nerve fails to increase in size with age and sensory neurons in spinal ganglia are decreased.8 Age-related increases in residual nodules in sensory ganglia and pr[r] ...
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FURTHER OBSERVATIONS ON FAMILIAL DYSAUTONOMIA
... that study of a control group of children suffering from some similar chronic life- threatening illness, but not involving the. central nervous system as this one does, will make clear w[r] ...
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Personality Development and Familial Dysautonomia
... The scores of determinants related to the development of im pulse recognition and control (M, FM, Fm) showed poorer control for FD than normal subjects during childhood, comparable contr[r] ...
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The Demonstration of Insulinopenia in Familial Dysautonomia
... H.: Capillary blood sugar values in infants and children during oral glucose tolerance tests. : A[r] ...
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Neonatal Diagnosis of Familial Dysautonomia
... On admission, the infant was very pale (hemoglobin level, 16 gm/dl). Lethargy and somnolence were marked, but unexpected l)rief periods of vitality with loud crying occurred about once e[r] ...
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Milk Antibodies in Familial Dysautonomia
... tonomia, and exceptionally high serum levels of hemagglutinins against milk were defined in all six patients studied, with milk precipitins pres- ent in the sera of five.. These levels a[r] ...
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FAMILIAL DYSAUTONOMIA: PULMONARY MANIFESTATIONS
... Roentgenograms of the chest showed diffuse bilateral interstitial infiltration which varied from time to time, associated with emphysema and lobar atelectasis, involving at various times[r] ...
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