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Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification

  • Autonomic Dysfunction (L.H. Weimer, Section Editor)
  • Published:
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Abstract

Purpose of Review

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically heterogeneous group of inherited neuropathies featuring prominent sensory and autonomic involvement. Classification of HSAN is based on mode of inheritance, genetic mutation, and phenotype. In this review, we discuss the recent additions to this classification and the important updates on management with a special focus on the recently investigated disease-modifying agents.

Recent Findings

In this past decade, three more HSAN types were added to the classification creating even more diversity in the genotype–phenotype. Clinical trials are underway for disease-modifying and symptomatic therapeutics, targeting mainly HSAN type III.

Summary

Obtaining genetic testing leads to accurate diagnosis and guides focused management in the setting of such a diverse and continuously growing phenotype. It also increases the wealth of knowledge on HSAN pathophysiologies which paves the way toward development of targeted genetic treatments in the era of precision medicine.

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Article 19 May 2023

Alejandra González-Duarte, Maria Cotrina-Vidal, … Lucy Norcliffe-Kaufmann

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  1. Department of Neurology, University of Alabama at Birmingham, 1720 2nd Ave. South, SC271, Birmingham, AL, USA

    Coreen Schwartzlow & Mohamed Kazamel

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Schwartzlow, C., Kazamel, M. Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification. Curr Neurol Neurosci Rep 19, 52 (2019). https://doi.org/10.1007/s11910-019-0974-3

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