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Genetic Small Fiber Sensory Neuropathy and Channelopathy

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Small Fiber Neuropathy and Related Syndromes: Pain and Neurodegeneration

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Abstract

Genetic neuropathies comprise a range of conditions which can include neuropathy as a predominant feature of the disease or as part of a multisystem disease. Small fiber sensory neuropathy and symptoms have been described in association with sodium channel mutations such as in the SCN9A, SCN10A, and SCN11A genes, which encode Nav1.7, Nav1.8, and Nav1.9 sodium channels, respectively. Erythromelalgia is an autosomal dominant painful condition characterized by redness of the skin and intermittent burning sensation of extremities, triggered by heat or exercise, and was shown to be related to mutations of Nav1.7. Paroxysmal extreme pain disorder (PEPD, first described as familial rectal pain) is an inherited syndrome with paroxysms of rectal, ocular, or submandibular pain with flushing, also linked to gain-of-function mutations of Nav1.7. In addition, SCN9A gene variants have been found in subjects of an idiopathic small fiber neuropathy (SFN) cohort. Predominant involvement of small nerve fibers has been documented in patients with Fabry disease, familial amyloid polyneuropathy (FAP), and Tangier’s disease. This chapter focuses on small fiber neuropathies and channelopathies with sensory symptoms, particularly pain, as the sole or primary feature.

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Authors and Affiliations

  1. Peripheral Neuropathy Unit, Centre for Clinical Translation, Division of Brain Sciences, Imperial College London, Hammersmith Hospital, London, UK

    Rosario Privitera & Praveen Anand

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  1. Rosario Privitera
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  2. Praveen Anand
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Correspondence to Praveen Anand .

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Editors and Affiliations

  1. Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan

    Sung-Tsang Hsieh

  2. Department of Neurology, Imperial College London, Hammersmith Hospital, London, UK

    Praveen Anand

  3. Department of Neurology, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA, USA

    Christopher H. Gibbons

  4. Neurologische Klinik, Universitätsklinikum Würzburg , Würzburg, Germany

    Claudia Sommer

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Privitera, R., Anand, P. (2019). Genetic Small Fiber Sensory Neuropathy and Channelopathy. In: Hsieh, ST., Anand, P., Gibbons, C., Sommer, C. (eds) Small Fiber Neuropathy and Related Syndromes: Pain and Neurodegeneration. Springer, Singapore. https://doi.org/10.1007/978-981-13-3546-4_7

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