Ontology highlight
ABSTRACT:
SUBMITTER: de Filette J
PROVIDER: S-EPMC4817896 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
de Filette Jeroen J Hasaerts Danielle D Seneca Sara S Gheldof Alexander A Stouffs Katrien K Keymolen Kathelijn K Velkeniers Brigitte B
Neurology. Genetics 20160107 1
Hereditary sensory autonomic neuropathy (HSAN) is a rare condition, predominantly affecting the peripheral sensory nervous system, although variable motor and dysautonomic symptoms can be present. At least 7 clinical types of HSAN have been described, and different genetic mutations have been identified for each of these. HSAN IIA (OMIM #201300) is characterized by loss of pain and loss of temperature and touch sensation, with onset usually before the first decade. The mode of inheritance is aut ...[more]