The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of beta-nerve growth factor (beta-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human beta-NGF. The availability of a cloned DNA probe for the human beta-NGF g...

SCOPE The reported ability to modulate the production of the wild-type transcript in cells bearing the splice-altering familial dysautonomia (FD)-causing mutation in the IKBKAP gene prompted an evaluation of the impact of commonly consumed nutraceuticals on the splicing of this transcript. METHODS AND RESULTS Screening efforts revealed the ability of the isoflavones, genistein, and daidzein, ...

background: familial dysautonomia is a rare genetic disorder with autosomal recessive inheritance that has been mainly reported in the ashkenazi jewish population. autonomic dysfunction, tendency to severe hyperpyrexia, vomiting and recurrent pulmonary aspiration, and pain conception disorder, make a patient an interesting candidate for anesthesia.  case report: the patient was an 8-year old gi...

Splicing mutations that lead to devastating genetic diseases are often located in nonconserved or weakly conserved sequences that normally do not affect splicing. Thus, the underlying reason for the splicing defect is not immediately obvious. An example of this phenomenon is observed in the neurodevelopmental disease familial dysautonomia (FD), which is caused by a single-base change in the 5' ...

Hilz, M. J., B. Stemper, P. Sauer, U. Haertl, W. Singer, and F. B. Axelrod. Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia. Am. J. Physiol. 276 (Regulatory Integrative Comp. Physiol. 45): R1833–R1839, 1999.—In familial dysautonomia (FD), i.e., Riley-Day syndrome, parasympathetic dysfunction has not been sufficiently evaluated. The cold face test is a no...