Hereditary sensory and autonomic neuropathies
- Florian S Eichler, MD
Florian S Eichler, MD
- Associate Professor of Neurology
- Harvard Medical School
- Section Editors
- Douglas R Nordli, Jr, MD
Douglas R Nordli, Jr, MD
- Section Editor — Pediatric Neurology
- Chief of Neurology
- Children’s Hospital Los Angeles
- Vice Chair of Neurology
- USC Keck School of Medicine
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Jeremy M Shefner, MD, PhD
Jeremy M Shefner, MD, PhD
- Section Editor — Neuromuscular Disease
- Professor and Chair of Neurology, Barrow Neurological Institute
- Professor of Neurology, University of Arizona, Phoenix
- Clinical Professor of Neurology, Creighton University
The hereditary peripheral neuropathies have been classified based upon clinical characteristics, mode of inheritance, electrophysiologic features, metabolic defect, and specific genetic markers. The Dyck classification developed in the 1970s helped to define specific types based upon clinical and electrophysiologic features . Many of the primary hereditary neuropathies were divided into motor-sensory and sensory-autonomic neuropathies.
The primary hereditary sensory and autonomic neuropathies are reviewed here. The primary hereditary motor sensory neuropathies and the disorders affecting both the central and peripheral nervous systems are discussed separately. (See "Overview of hereditary neuropathies" and "Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease" and "Neuropathies associated with hereditary disorders".)
Hereditary sensory and autonomic neuropathies (HSANs) occur much less frequently than do the primary hereditary motor sensory neuropathies (HMSNs). The major feature of the HSANs is loss of large myelinated and unmyelinated fibers. They have been categorized into multiple types and subtypes, although some children do not fit well into this classification (table 1) [1,2]. Our understanding of the basic genetic abnormalities in these diseases is substantially less than that of the hereditary motor sensory neuropathies.
Hereditary sensory and autonomic neuropathy type I (also known as hereditary sensory neuropathy type I and hereditary sensory radicular neuropathy) is the most common form of HSAN . It is characterized by progressive degeneration of dorsal root ganglion and motor neurons, leading to distal sensory loss and later distal muscle wasting and weakness and variable neural deafness [4,5].
Genetics — HSAN1 is genetically heterogeneous. Most cases show autosomal dominant inheritance. At least five genes have been implicated in the disorder .
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