6
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Recent advances in hereditary sensory and autonomic neuropathies.

      Current Opinion in Neurology
      Autonomic Nervous System Diseases, genetics, physiopathology, Hereditary Sensory and Autonomic Neuropathies, Humans, Nerve Growth Factor, Receptor, trkA, Serine C-Palmitoyltransferase, rab GTP-Binding Proteins

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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. 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. 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.

          Related collections

          Author and article information

          Comments

          Comment on this article