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A 2-month-old girl developed motor neuron disease (MND) with autonomic disturbances and died at the age of 5 months. Neuropathological examination revealed Bunina bodies (BBs) in the lower motor neurons of the lumbar spinal cord. The significance of the presence of BBs and the classification of the MND in this child are discussed.
Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system, either isolated or combined, including congenital central hypoventilation syndrome (CCHS), tumours of the sympathetic nervous system and Hirschsprung disease. In CCHS, the prevalent mutation is an expansion of a 20-alanine stretch ranging from +5 to +13 alanines, whereas frameshift and missense mutations are found occasionally. To determine the molecular basis of impaired PHOX2B function, we assayed the transactivation and DNA binding properties of wild-type and mutant PHOX2B proteins. Furthermore, we investigated aggregate formation by proteins with polyalanine tract expansions ranging from +5 to +13 alanines using immunofluorescence of transfected cells and gel filtration of in vitro translated proteins. We found that transactivation of the dopamine beta-hydroxylase promoter by PHOX2B proteins with frameshift and missense mutations was abolished or severely curtailed, as was in vitro DNA binding although the proteins localized to the nucleus. The transactivation potential of proteins with polyalanine tract expansions declined with increasing length of the polyalanine stretch, and DNA binding was affected for an expansion of +9 alanines and above. Cytoplasmic aggregation in transfected cells was only observed for the longest expansions, whereas even the short expansion mutants were prone to form multimers in vitro. Such a tendency to protein misfolding could explain loss of transactivation for alanine expansion mutations. However, additional mechanisms such as toxic gain-of-function may play a role in the pathogenic process.
Beat-to-beat variation of the heart rate was studied as a test of autonomic function. Recordings were made during quiet breathing, deep breathing and tilting from supine to upright position. The heart rate variations were expressed as a % of mean R-R interval. In order to establish normal criteria, the influence of age, wakefulness and intra-individual variations was studied in healthy volunteers. A negative correlation with age was found for all measured parameters. Patients with diabetic polyneuropathy differed from age-matched controls. Patients with symptoms of autonomic failure showed smaller variations than those without such symptoms.
Among many metabolic disorders, porphyrias and Fabry disease are known to affect autonomic nervous system. In patients with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, autonomic symptoms such as abdominal pain, vomiting, hypertension and tachycardia are among the most prominent clinical manifestations. Fabry disease is clinically characterized by severe limb pain, hypohidrosis, angiokeratomas and various autonomic symptoms. In both porphyrias and Fabry disease, pathological changes in the central and peripheral autonomic nervous system have been documented. In porphyrias, a loss of myelinated fibers, axonal degeneration, and segmental demyelination in peripheral autonomic nerves as well as chromatolysis of several brain stem nuclei have been found. In Fabry disease, abnormal amount of the substrates of alpha-galactosidase, i.e. ceramide di- and trihexoside, are found to be accumulated in the central and peripheral autonomic nerves.
The most widely used tests for the investigation of the autonomic nervous system (ANS) functioning measure the heart rate (HR) variations during wakefulness. Most tests have some limitations: they require patient collaboration and can be modified by his or her emotional status. We studied HR variability in relation to body movements during sleep in some neurological diseases. Our method seems to be better than the traditional tests in detecting early cardiac ANS damage, especially when the patient is non-co-operative for ANS evaluation during wakefulness after various stimuli.
To evaluate the autonomic nervous control of the heart in patients with systemic sclerosis (SSc), spontaneous heart rate variability was investigated by means of time-domain and spectrum analysis of 24 h ECG ambulatory recordings in 30 SSc patients (four males, aged 45.2 +/- 9 yr, mean +/- S.D., range 27-60) and 30 age-matched healthy subjects. A significantly higher heart rate (P < 0.01) and lower circadian and spectral indices of heart rate variability (P < 0.01) were observed in SSc patients, compared with controls. A predictive value of age (P = 0.002), tachycardia (P = 0.002), circadian heart rate variability (P = 0.0025) and spectral power values (P = 0.005) for patient mortality was found. Moreover, the relative risk of death was higher (P = 0.05) in older subjects with circulating anti-Scl70. These abnormalities, detectable by a feasible, non-invasive diagnostic approach, indicate the presence of autonomic cardiac neuropathy in SSc patients.
Nine cases of botulism B with preponderant effects upon cholinergic autonomic innervation are presented. Blurred vision and dry mouth were constant symptoms. Impairment of salivary and lacrimal secretion were detectable for months. In the absence of clinical signs, electromyographic studies did not reveal neuromuscular involvement. Administration of antitoxin in the late course of such cases is not recommended, but guanidine can be used. Doubt is cast upon a new clinical entity called "acute autonomic neuropathy."
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