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J. Hutchison, W. Hamilton (1962)
Familial dysautonomia in two siblings.Lancet, 1 7241
C.D. Aring (1945)
Hypothalamic Attacks With Thalamic Lesions: II. Anatomic ConsiderationsArch Neurol Psychiat, 54
W. Brown, And BEAUCHEMIN, Leonard Linde (1964)
A neuropathological study of familial dysautonomia (Riley-Day syndrome) in siblingsJournal of Neurology, Neurosurgery & Psychiatry, 27
Gilbert Solitary, G. Cohen (1965)
Peripheral autonomic nervous system lesions in congenital or familial dysautonomiaNeurology, 15
C. Aring, G. Engel (1945)
HYPOTHALAMIC ATTACKS WITH THALAMIC LESION: II. ANATOMIC CONSIDERATIONSJournal of Nervous and Mental Disease, 54
P. Cohen (1955)
Familial Dysautonomia: Case Report With AutopsyJ Pediat, 46
C.M. Riley (1957)
Familial DysautonomiaAdvances Pediat, 9
F. Yatsu, W. Zussman (1964)
Familial Dysautonomia (Riley-Day Syndrome): Case Report With Postmortem Findings of a Patient at Age 31JAMA Neurology, 10
J. Dancis (1966)
Current Concepts: Familial DysautonomiaNew Eng J Med, 274
F. Yatsu (1964)
Familial Dysautonomia (Riley-Day Syndrome): Case Report With Postmortem Findings of a Patient at Age 31Arch Neurol, 10
C. Riley, R. Moore (1966)
Familial dysautonomia differentiated from related disorders. Case reports and discussions of current concepts.Pediatrics, 37 3
G.B. Solitare (1965)
Peripheral Autonomic System Lesions in Congenital or Familial Dysautonomia (Riley-Day Syndrome)Neurology, 15
Conrad Riley (1970)
Familial dysautonomia.The Journal of pediatrics, 77 6
Abstract FAMILIAL dysautonomia is an autosomal recessive disturbance affecting the nervous system with clinical characteristics sufficiently well established to permit diagnosis at an early age.1 Autonomic disturbances are decreased lacrimation, transient skin blotching, instability of temperature control, hyperhydrosis, blood pressure fluctuations with postural hypotension, and hypertensive episodes. Other neurologic manifestations include motor incoordination, pain insensitivity, hypoactive tendon reflexes, abnormal swallowing reflex, emotional lability, and episodic vomiting. As a recessively inherited disorder the basic defect should be attributable to a single enzyme deficiency, but, as yet, the metabolic defect has not been delineated.2 To date, neuropathological studies in familial dysautonomia have not offered a morphologic explanation for this constellation of signs and symptoms. In studies where changes have been seen, the lesions have been described in three sites: (1) reticular formation of the pons and medulla, (2) spinal cord, especially the posterior columns, and (3) peripheral autonomic ganglia References 1. Riley, C.M.: Familial Dysautonomia , Advances Pediat 9:157, 1957. 2. Dancis, J., and Smith, A.A.: Current Concepts: Familial Dysautonomia , New Eng J Med 274:207, 1966.Crossref 3. Aring, C.D., and Engel, G.L.: Hypothalamic Attacks With Thalamic Lesions: II. Anatomic Considerations , Arch Neurol Psychiat 54:44, 1945.Crossref 4. Cohen, P., and Solomon, N.H.: Familial Dysautonomia: Case Report With Autopsy , J Pediat 46:663, 1955.Crossref 5. Hutchison, J.H., and Hamilton, W.: Familial Dysautonomia in Two Siblings , Lancet 1:1216, 1962.Crossref 6. Yatsu, F., and Zussman, W.: Familial Dysautonomia (Riley-Day Syndrome): Case Report With Postmortem Findings of a Patient at Age 31 , Arch Neurol 10:495, 1964.Crossref 7. Brown, W.J.; Beauchemin, J.A.; and Linde, L.N.: A Neuropathological Study of Familial Dysautonomia (Riley-Day Syndrome) in Siblings , J Neurol Neurosurg Psychiat 27:131, 1964.Crossref 8. Solitare, G.B., and Cohen, G.S.: Peripheral Autonomic System Lesions in Congenital or Familial Dysautonomia (Riley-Day Syndrome) , Neurology 15:321, 1965.Crossref 9. Riley, C.M., and Moore, R.H.: Familial Dysautonomia Differentiated From Related Disorders: Case Reports and Discussion of Current Concepts , Pediatrics 37:435, 1966.
Archives of Neurology – American Medical Association
Published: Jul 1, 1967
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