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Autonomic Nervous System Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Major component of autonomic failure: Diabetes.Acute inflammatory polyradiculopathy (Guillain–Barré syndrome).Acute intermittent porphyria.Primary and secondary amyloidosis.Familial dysautonomia (hereditary sensory and autonomic neuropathy).Sjögren's syndrome and, rarely, other connective tissue disorders.Chronic idiopathic sensory and autonomic neuropathy.
Peripheral neuropathies
Published in Peter R Wilson, Paul J Watson, Jennifer A Haythornthwaite, Troels S Jensen, Clinical Pain Management, 2008
Ravikiran Shenoy, Katherine Roberts, Praveen Anand
Painful burning sensations in the hands and lower legs, and tender legs in boys or young men, may be the presenting feature in Fabry’s disease. The pains may be so severe that walking is often restricted. It is an X-linked disease and other manifestations include maculopapular rash on the body, red angiectases under the nail beds, and renal impairment. Fabry’s disease and hereditary sensory and autonomic neuropathy are discussed in detail elsewhere.33, 34
Diagnostic algorithms for painful peripheral neuropathy
Published in Harald Breivik, William I Campbell, Michael K Nicholas, Clinical Pain Management, 2008
It is impossible to give an exhaustive list of blood tests used to investigate a painful neuropathy as this should be very much governed by the clinical features. Below is some guidance. Blood tests checked in the majority of neuropathies. Full blood count, erythrocyte sedimentation rate, renal profile, liver function tests, thyroid function tests, fasting plasma glucose, and a glucose tolerance test (impaired glucose tolerance is a previously under-recognized cause of painful sensory neuropathy9), plasma protein electrophoresis (with immunofixation), vitamin B12, and folate.Blood tests to consider in neuropathies which are acute, asymmetric, or where there are systemic features. Autoimmune screen (antinuclear antibodies, extractable nuclear antigen, double-stranded DNA binding, rheumatoid factor, antineutrophil cytoplasmic antibody, antineuronal antibodies), hepatitis serology, C-reactive protein, Lyme serology, HIV testing, serum angiotensin converting enzyme.Genetic tests for hereditary neuropathies which are commonly painful. Hereditary sensory and autonomic neuropathy type-1 causes sensory loss, lancinating pain, ulceration, and autonomic involvement; it occurs due to mutations in serine palmitoyl transferase long chain base subunit 1 (SPTLC1) and is inherited in an autosomal dominant fashion. CMT 2B causes sensory loss, ulceration, lancinating pain, autonomic and motor involvement and is due to mutations in small GTPase late endosomal protein RAB7. Again, disease inheritance is autosomal dominant. CMT 4F is an autosomal recessive condition which leads to a demyelinating neuropathy with severe sensorimotor involvement. It is caused by mutations in periaxin.
What’s new in chronic pain pathophysiology
Published in Canadian Journal of Pain, 2020
The voltage-gated sodium ion channel Nav1.7 (encoded by SCN9A) is implicated in painful and painless conditions.25 This sodium channel subtype is expressed selectively in sensory and autonomic neurons. Mutations that inactivate the SCN9A gene result in both congenital insensitivity to pain and hereditary sensory and autonomic neuropathy type IID.25 Gain-of-function mutations in this gene produce syndromes such as inherited erythromelalgia, paroxysmal extreme pain disorder (familial rectal pain), and small-fiber neuropathy.25 Other voltage-gated sodium channel subtypes have also been associated with pain disorders, including Nav1.8 (SCN10A) with small-fiber neuropathy and Nav1.9 (SCN11A) with congenital insensitivity to pain.25
Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants
Published in Canadian Journal of Pain, 2020
Mary A. Kelley, Anne Louise Oaklander
We raise, but cannot answer, the question whether missense Nav mutations might augment the probability of immune responses directed toward small fiber neurons, whether by changing surface antigens or through less direct mechanisms. All three VUSs reported here altered intracellular rather than extracellular proteins, so exposure of new epitopes seems unlikely, but other effects cannot be predicted. Theoretical models predict that many more risk variants remain unknown due to the current genome-wide significance threshold and that many different susceptibility loci, with very small effect sizes, can contribute to multifactorial disease. Polygenic risks are well described in multiple sclerosis,71 as is the wide phenotypic and genetic heterogeneity of Charcot-Marie-Tooth disease.61 Investigation of genetic influences on SFN is in its infancy, but large sets of real-world data are needed to advance research and inform treatment options. Therefore, the Massachusetts General Hospital Nerve Unit built a secure Internet interface for data sharing of rare genetic variants of known or potential significance for patients with SFN at https://neuropathycommons.org/content/neuropathy-gene-registry-0. With more VUSs analyzed, more will become “actionable,” meaning influencing diagnosis, prognosis, or treatment. Some may lead to gene-specific oligonucleotide or first precision therapies, as recently reported for hereditary sensory and autonomic neuropathy type 1.62 Even today, given the wide availability and low cost, combined with strong data for efficacy of sodium channel–blocking drugs, we consider it reasonable to consider empirically trying generally safe, potentially disease-modifying treatments such as the sodium channel blockers tried here in patients with potentially pathogenic VUS.