Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia

https://doi.org/10.1016/0022-510X(78)90187-9Get rights and content

Abstract

In adult patients with familial dysautonomia the mean volume of superior cervical sympathetic ganglia is reduced to 34% of the normal of 222 mm3. Packing density of neurons is reduced to 37% of normal. The mean total number of ganglionic neurons is 120,000 as compared to 1,060,000 in controls. The mean totals of preganglionic neurons in the first three thoracic cord segments are 13,600 in patients and 25,150 in controls. Deficits in sympathetic neurons account for many of the clinical, pharmacological and biochemical manifestations of familial dysautonomia.

References (43)

  • V. DeQuattro et al.

    Intact synthesis and increased turnover of norepinephrine 3H after L-DOPA-3H in dysautonomia

    Clin. Res.

    (1969)
  • M.D. Dibner et al.

    Target organ regulation of sympathetic neuron development

    Soc. Neurosci. Abstr.

    (1976)
  • S.O.E. Ebbesson

    Quantitative studies of superior cervical sympathetic ganglia in a variety of primates including man, Part 1 (The ratio of preganglionic fibers to ganglionic neurons)

    J. Morph.

    (1968)
  • S.O.E. Ebbesson

    Quantitative studies of superior cervical sympathetic ganglia in a variety of primates including man, Part 2 (Neuronal packing density)

    J. Morph

    (1968)
  • S.E. Gitlow et al.

    Excretion of catecholamine metabolites by children with familial dysautonomia

    Pediatrics

    (1970)
  • Mc.C. Goodall et al.

    Decreased noradrenaline (norepinephrine) synthesis in familial dysautonomia

    J. clin. Invest.

    (1971)
  • N. Grover-Johnson et al.

    Deficient vascular innervation in familial dysautonomia, an explanation for vasomotor instability

    Neuropath. appl. Neurobiol.

    (1976)
  • L.H. Hamlyn

    The effect of preganglionic section in the neurons of the superior cervical ganglion in rabbits

    J. Anat. (Lond.)

    (1954)
  • R.H. Johnson et al.

    Autonomic failure with orthostatic hypotension due to intermediolateral column degeneration

    Quart. J. Med.

    (1966)
  • B.W. Konigsmark

    Methods for the counting of neurons

  • H.A. Kontos et al.

    Mechanisms of circulatory dysfunction in orthostatic hypotension

    Trans. Amer. clin. climatol. Ass.

    (1975)
  • Cited by (111)

    • Familial dysautonomia: History, genotype, phenotype and translational research

      2017, Progress in Neurobiology
      Citation Excerpt :

      There is scant neuropathological data on efferent sympathetic noradrenergic neurons in FD. There are fewer preganglionic sympathetic neurons in the intermediolateral cell column of the spinal cord (Pearson and Pytel, 1978b), the sympathetic ganglia are reduced to one third the size of normal (Dyck et al., 1978; Pearson and Pytel, 1978b) and sympathetic nerve terminals (in renal biopsy samples) could not be identified (Pearson et al., 1975, 1980). The remaining sympathetic neurons, while reduced in number, are functionally active and are capable of releasing catecholamines and raising blood pressure excessively (Figs. 5 and 7).

    • Brainstem reflexes in patients with familial dysautonomia

      2015, Clinical Neurophysiology
      Citation Excerpt :

      The similar proportion of amplitude decrement for the early and late components, approximately 50%, indicates that both peripheral trigeminal afferents and central pathways within the brainstem are affected in a similar proportion, as occurred with the latencies of these responses. This is in line with pathology samples in FD showing involvement of brainstem reticular formation (Cohen and Solomon, 1955; Brown et al., 1964) and marked reduction in the number of sensory neurons in the trigeminal ganglia (Brown et al., 1964; Aguayo et al., 1971; Pearson et al., 1971, 1975; Pearson and Pytel, 1978b), as well as the decreased sensory nerve action potentials in the limbs (Hilz and Axelrod, 2000). Impairment of the efferent neurons, as suggested by the slightly decreased orbicularis oculi CMAP and masseter EMG amplitudes, is unlikely to fully explain the marked decrease in reflex amplitudes.

    • Hereditary Sensory and Autonomic Neuropathies

      2015, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
    • Autonomic and Sensory Disorders

      2013, Emery and Rimoin's Principles and Practice of Medical Genetics
    • Familial dysautonomia (Riley-Day syndrome): When baroreceptor feedback fails

      2012, Autonomic Neuroscience: Basic and Clinical
      Citation Excerpt :

      Even trivial emotions (phone calls, action sequences in films) provoke dramatic increases in blood pressure and heart rate. Despite neuropathological evidence that the sympathetic ganglia are reduced in size (Dyck et al., 1978; Pearson and Pytel, 1978), plasma norepinephrine levels do increase with emotional arousal (Norcliffe-Kaufmann et al., 2010). This suggests that the fewer post-ganglionic sympathetic nerves that do remain (Pearson et al., 1979) are physiologically active and their effects are magnified by denervation supersensitivity.

    View all citing articles on Scopus

    This research was funded solely by the members of the Dysautonomia Foundation Inc. to whom the authors wish to express their thanks.

    View full text