Highlights in clinical autonomic neuroscience: Hereditary sensory and autonomic neuropathies

Abstract

The hereditary sensory and autonomic neuropathies (HSAN) are a clinically and genetically heterogeneous group of disorders that were initially classified by clinical criteria ( Dyck, 1993 Dyck P.J. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. in: Dyck P.J. Thomas P.K. Griffin J.W. Low P.A. Podusio J.F. Peripheral Neuropathy. 3rd edition. W. B. Saunders, Philadelphia1993: 1065-1093 Google Scholar ). Advances in molecular biology continue to elucidate their genetic basis, yielding insights into their pathogenesis and fostering hope that new treatments will be discovered. Research has identified a number of genes in which mutations cause the various types of HSAN ( Rotthier et al., 2009 Rotthier A. Baets J. De Vriendt E. et al. Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation. Brain. 2009; 132: 2699-2711 Crossref PubMed Scopus (119) Google Scholar ). Several recent studies represent notable developments in this field.