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Handb Clin Neurol. 2013;115:893-906. doi: 10.1016/B978-0-444-52902-2.00050-3.

Hereditary sensory and autonomic neuropathies.

Author information

1
Department of Orthopaedics, Medical University Vienna, Vienna, Austria. Electronic address: michaela.auer-grumbach@meduniwien.ac.at.

Abstract

Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor disturbances. Autosomal dominant and autosomal recessive inheritance has been reported. Molecular genetics studies have identified disease-causing mutations in 11 genes. Some of the affected proteins have nerve-specific roles but underlying mechanisms have also been shown to involve sphingolipid metabolism, vesicular transport, structural integrity, and transcription regulation. Genetic and functional studies have substantially improved the understanding of the pathogenesis of the HSN/HSAN and will help to find preventive and causative therapies in the future.

KEYWORDS:

HSAN; HSN; genes; hereditary sensory and autonomic neuropathies; sphingolipid metabolism

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