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Autonomic Nervous System Dysfunction in Motor Neuron Diseases

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Autonomic Nervous System Dysfunction in Motor Neuron Diseases Araujo APQC, Araujo IP, Araujo AQC. J Rare Dis Res Treat. (2018) 3(1): 1-5 Journal of www.rarediseasesjournal.com Rare Diseases Research & Treatment Mini-review Open Access Autonomic nervous system dysfunction in motor neuron diseases Alexandra Prufer de Queiroz Campos Araujo1*, Igor Prufer de Queiroz Campos Araujo2, Abelardo de Queiroz Campos Araujo3 1Institute of Pediatrics, Federal University of Rio de Janeiro (UFRJ). Rua Bruno Lobo 50, Cidade Universitária, Rio de Janeiro, RJ 21941-912, Brazil 2School of Medicine, Federal University of Rio de Janeiro (UFRJ) Rua Bruno Lobo 50, Cidade Universitária, Rio de Janeiro, RJ 21044-020, Brazil 3The Institute of Neurology, Federal University of Rio de Janeiro (UFRJ). Av Venceslau Braz, 215, Botafogo, Rio de Janeiro, RJ 22290-160, Brazil Article Info ABSTRACT Article Notes Background: Motor neuron disorders predominately result in progressive Received: October 04, 2017 weakness. Nevertheless a wider expression of symptoms and signs point to Accepted: January 30, 2018 a more multisystemic involvement. Autonomic nervous system findings have been reported in animal models, adult and child motor neuron diseases. *Correspondence: Dr. Alexandra Prufer de Queiroz Campos Araujo, Institute of Objective: Review the literature on autonomic findings in motor neuron Pediatrics, Federal University of Rio de Janeiro (UFRJ). Rua diseases. Bruno Lobo 50, Cidade Universitária, Rio de Janeiro, RJ 21941-912, E-mail: [email protected] Method: A PubMed literature search. © 2018 Araujo APQC. This article is distributed under the terms Results: In the present review, we will discuss the neuropathological and of the Creative Commons Attribution 4.0 International License. clinical features of dysautonomia reported in motor neuron disease in humans and animal models. Keywords autonomic nervous system Conclusion: The literature points to considering careful autonomic spinal muscular atrophy evaluation and management in patients with motor neuron disorders. motor neuron disease animal models Background Autonomic nervous system (ANS) disorders are found either as a primary disease or in association with other nervous system disorders. Dysautonomia is a general term used to describe a therefore these conditions are often misdiagnosed. The pathological involvementfailure of the can ANS. be Symptomseither central, are wide-ranginginvolving structures and unspecific; as the intermediolateral (IML) column, the dorsal nucleus of the vagus and other brainstem nuclei, or peripheral postganglionic path1. Until recently, acquired and hereditary motor neuron diseases have been considered disorders clinically and pathologically limited to the motor neurons. However, this well established knowledge has been challenged by new clinical and experimental data. Recent evidences have led to believe that these conditions may have a wider range of involvement, also affecting the ANS2. Finally, although expression of ANS occurs in primary motor disorders and 3, it was not until recently, that a anatomical intersection of those two neurologicalsympathicomimetics systems havemay beenshow found benefit4. in motor performance motor neuron diseases in general and in SMA, both in humans and in animalIn this models. review, we will focus on findings of dysautonomia in Page 1 of 5 Araujo APQC, Araujo IP, Araujo AQC. J Rare Dis Res Treat. (2018) 3(1): 1-5 Journal of Rare Diseases Research & Treatment Methods in the SMA mouse model. This animal model For this review, the literature search was based SMNDelta7 producesPTN) deficiency drier and was fewer examined fecal pelletson gastroenteric when compared function to on PubMed using the Mesh terms “Motor Neuron the control mice. Also mice had delayed gastric Disease”,“Bulbo-Spinal Atrophy, X-Linked”, “Muscular SMNDelta7 emptying and slow liquid transit in the small intestine. Atrophy, Spinal”, “Spinal Muscular Atrophies of Childhood”, Central nervous system gene therapy did not rescue the gastroenteric dysfunction, suggesting a direct effect of “Autonomic Nervous System Diseases”, “Adrenergic Fibers”, 8. “Parasympathetic“Autonomic Nervous Nervous System”, System”, “Autonomic “Sympathetic Dysreflexia”, Nervous System”, “Cholinergic Fibers”. Articles that did not refer to SMN-PTNAdditionally, deficiency distal in thenecrosis, enteric a nervous feature system of SMA mice models, is thought to be a result of ANS dysfunction were not retrieved by the search were included as they producing impaired vascularization9. werethe specific cited in topics others were and/or not considered included. toFour have articles important that Finally, in mice, skeletal muscle receives innervation and pertaining results. The review is divided into three from sympathetic neurons at the neuromuscular junction, topics: Dysautonomia in motor neuron diseases in animal where beta2-adrenreceptors are depicted on confocal models, in Motor Neuron Diseases in adults and in Spinal microscopy and a trophic role for this interaction is Muscular Atrophies of Childhood. postulated4. Results In summary, a number of animal models provided Animal models strong evidences of the involvement of the ANS in SMA. Using animal models is an excellent way to test and Dysautonomia in Motor Neuron Diseases of adults prove an etiopathogenic hypothesis. To this end, the Amyotrophic lateral sclerosis (ALS) is a progressive involvement of the ANS in motor neuron diseases has been explored particularly in Spinal Muscular Atrophy (SMA) genetic mutations, that involves motor neurons in the 4-9 mouse models . cerebralneurodegenerative cortex, brain disorder, stem and rarely spinal associated cord. Degeneration with specific Heier et al5 found evidence of both myocardial and ANS of both lower motor neurons and upper motor neurons disturbances present in SMNDelta7 SMA mouse model. are crucial neuropathological features of ALS 8. ALS has Bradyarrhythmia was present in SMA mice relative to traditionally been considered to be a pure motor disease, in unaffected heterozygous littermates from a postnatal which sensory function and coordination remain intact10, and the existence of additional neurological manifestations at every time point electrocardiograms were recorded. or other organ involvements suggest an alternative Furthermore,second day and immunostaining PR interval was for sympathetic significantly innervation elongated diagnosis. However, it is increasingly recognized that non- showed a reduced number of branches in both ventral and motor manifestations may occur11. dorsal heart views. Thus a decrease in sympathetic tone Symptoms of dysautonomia are not prominent in ALS could be responsible for an autonomic imbalance. but were recently reported in several studies. Evidence for Accordingly, slow heart frequency was also described involvement of the ANS has also accumulated12. by others, studying the same animal model6. Furthermore, Autonomic symptoms such as orthostatic hypotension delivery of a survival motor neuron-1 transgene using a or postural dizziness are rare in patients with ALS13. self-complementary adeno-associated virus serotype 9 However, advanced cases exhibit blood pressure abolished this symptom. Thus authors conclude that this feature is most likely attributable to aberrant autonomic accompanied by tachycardia, as well as sudden falls in signaling. bloodfluctuations, pressure. including These frequently paroxysmal occur hypertensive during sleep episodes13,14. In In contrast, Biondi et al7, studying wild-type and type this way, a consistent body of evidences has suggested that 2 SMA-like mice (SmnDelta7/_7 SMN2+/ enhanced sympathetic drive of presumably central origin, also showing that cardiac and respiratory function are and possibly reduced parasympathetic drive, characterize 12 impaired in SMA-like mice, suggest that; there is−) no although defect in the autonomic cardiovascular state in ALS . sympathetic activity and that differences in heart rate are ALS patients often report increased or reduced more likely due to cardiac conduction defects. They used sweating in their palms, reduced skin temperature, or pharmacological inhibition of both sympathetic (atenolol) skin discoloration and studies of sudomotor function and parasympathetic (atropine) branches and an exercise have provided evidence of sympathetic postganglionic protocol. cholinergic denervation in this disease15-17. The impact of Survival Motor Neuron Protein (SMN- Within the spectrum of neuropathology, the ANS Page 2 of 5 Araujo APQC, Araujo IP, Araujo AQC. J Rare Dis Res Treat. (2018) 3(1): 1-5 Journal of Rare Diseases Research & Treatment appears to be the least frequently and systematically caused by a trinucleotide repeat expansion in the androgen studied, although modern morphological techniques may receptor gene. Affected males typically develop weakness be applied to evaluate its changes. This is partly due to in their mid-forties, as well as evidence of androgen limited access to the ANS via biopsy and partly because insensitivity with reduced fertility and gynecomastia. of lack of extensive sampling at autopsy. Nevertheless, SBMA causes a progressive degeneration of the lower in analogy to the loss of motorneurons, morphometric motor neurons and muscle. ANS involvement has not studies have detected neuronal loss in the thoracic18,19 been considered part of SBMA. Recently, however, Rocchi and sacral20 IML nucleus of the spinal cord, which contain et al.24 assessed the autonomic cardiovascular function in sympathetic and parasympathetic preganglionic neurons,
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