Familial dysautonomia

@article{Axelrod1976FamilialD,
  title={Familial dysautonomia},
  author={Felicia B. Axelrod and Thom W Mittag and Jack Peter Green},
  journal={Nature},
  year={1976},
  volume={262},
  pages={742-742}
}
Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. The FD gene has been identified as IKBKAP. Mutations result in tissue‐specific expression of mutant IκB kinase‐associated protein (IKAP). The genetic error probably affects development, as well as maintenance, of neurons because there is neuropathological and clinical progression. Pathological alterations… 

References

SHOWING 1-10 OF 32 REFERENCES

Familial Dysautonomia: The Mechanism of Aspiration1

TLDR
The purpose of this study was to analyze the swallowing pattern and the mechanism of aspiration in 6 patients with familial dysautonomia.

Familial dysautonomia.

TLDR
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature.

Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy.

TLDR
The purpose of this communication is to report the results of electrophysiologic, ultrastructural, and quantitative histologic studies of peripheral nerve in a patient with the Riley-Day syndrome.

Ocular manifestations of Riley-Day syndrome; familial autonomic dysfunction.

  • S. Liebman
  • Medicine
    A.M.A. archives of ophthalmology
  • 1956
TLDR
A syndrome, called familial dysautonomia, which is becoming of increasing interest to both the pediatrician and the ophthalmologist, has been defined only in recent years and is characterized by a plethora of symptoms.

EXAGGERATED RESPONSE TO INFUSED NOREPINEPHRINE IN FAMILIAL DYSAUTONOMIA.

TLDR
FAMILIAL dysautonomia is an inherited disease with a complex but fairly well defined symptomatology and commonly affects siblings and is largely if not entirely restricted to Jews.

Catecholamine release in familial dysautonomia.

TLDR
Evidence of pressor catecholamine insufficiency correlates well with the postural hypotension that is consistently found in familial dysautonomia, suggesting heightened reactivity to sympathetic substances, rather than an excessive production of norepinephrine, as the cause of the clinical symptoms.

CENTRAL AUTONOMIC DYSFUNCTION WITH DEFECTIVE LACRIMATION

TLDR
Five cases have been reported with symptoms and findings so similar as to constitute a clinical entity that seem best interpreted as a central, possibly congenital, disturbance of autonomic function.

RESPONSES TO INFUSED METHACHOLINE IN FAMILIAL DYSAUTONOMIA.

TLDR
The enhanced responses to infused methacholine in dysautonomia suggest an insufficiency of parasympathetic function with effector supersensitivity, and the basis for the improvement in sensory function is unknown.

Central autonomic dysfunction with defective lacrimation; report of five cases.

TLDR
Five cases have been reported with symptoms and findings so similar as to constitute a clinical entity that seem best interpreted as a central, possibly congenital, disturbance of autonomic function.