Neuromuscular diseases: nerveRecent advances in hereditary sensory and autonomic neuropathiesVerhoeven, Kristiena,b; Timmerman, Vincenta,b; Mauko, Barbarac,f; Pieber, Thomas Rc; De Jonghe, Peterb,d,e; Auer-Grumbach, Michaelac,fAuthor Information aPeripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium bLaboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium cDepartment of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Graz, Austria dNeurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium eDepartment of Neurology, University Hospital Antwerpen, Belgium fInstitute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria Correspondence to Prof. Dr Vincent Timmerman PhD, Peripheral Neuropathy Group, Molecular Genetics Department, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium Tel: +32 3 265 10 24; fax: +32 3 265 10 12; e-mail: [email protected] The research in the laboratory of M.A.-G. is supported by the Austrian Science Fund (FWF, P17494-B14) and the Austrian Diabetes Society (ÖDG), Austria. The research in the laboratories of P.D.J. and V.T. is supported by the University of Antwerp, the Fund for Scientific Research (FWO), the Medical Foundation Queen Elisabeth (GSKE), the Association Belge contre les maladies Neuromusculaires (ABMM), the American Muscular Dystrophy Association (MDA), and the Interuniversity Attraction Poles Program P5/19 of the Belgian Federal Science Office. K.V. received a postdoctoral fellowship of the FWO-Flanders, Belgium. Current Opinion in Neurology: October 2006 - Volume 19 - Issue 5 - p 474-480 doi: 10.1097/01.wco.0000245370.82317.f6 Buy Metrics Abstract Purpose of review This review summarizes the genetic advances of hereditary sensory neuropathies and hereditary sensory and autonomic neuropathies, and provides information on phenotype–genotype correlation and on possible underlying pathomechanisms. Recent findings Hereditary sensory neuropathies, also known as hereditary sensory and autonomic neuropathies, are a clinically and genetically heterogeneous group of disorders. These disorders are characterized by prominent sensory loss with acro-mutilating complications and a variable degree of motor and autonomic disturbances. Based on age at onset, clinical features and mode of inheritance, these disorders have originally been subdivided into five types. The identification of eight loci and six disease-causing genes for this group of disorders, however, has shown that this present classification has to be refined. Summary This review will discuss each of the different loci and genes of these disorders, showing glimpses into a possible underlying pathomechanism leading to the degeneration of sensory and autonomic neurons. © 2006 Lippincott Williams & Wilkins, Inc.