Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia

Familial dysautonomia (FD, OMIN #223900) is an inherited sensory and autonomic neuropathy (type III) mapped to the IKBKAP gene on chromosome 9 (Slaugenhaupt et al., 2001). Mutations in the gene affect the development and survival of primary afferent neurons (Norcliffe-Kaufmann et al., 2010; Macefield et al., 2011; Norcliffe-Kaufmann et al., 2017). Phenotypically, patients with FD have widespread somatosensory and autonomic deficits caused by impaired transmission of nociceptive, thermal, mechanical, chemical, metabolic, and osmotic information from the body to the brain (Norcliffe-Kaufmann et al., 2010; Gutierrez et al., 2015; Palma et al., 2015; Norcliffe-Kaufmann et al., 2017).

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2n2HHiF
via IFTTT