Basic research and model systems in familial dysautonomia: What do we know and what’s next?

Excerpt

Familial dysautonomia (FD), also known as Riley–Day syndrome or hereditary sensory autonomic neuropathy type III, is a rare autosomal recessive disease affecting almost exclusively the Ashkenazi Jewish population, with an incidence of 1:3700 live births and a carrier frequency ranging from one in 19 (in those of Polish descent) to one in 32. FD patients manifest from birth a broad range of symptoms, including vomiting crises, difficulties in swallowing, gastrointestinal and cardiovascular dysfunction, ataxia, pneumonia, kyphoscoliosis, absence of fungiform papillae on the tongue, lack of baseline tears, difficulties in regulating body temperature and blood pressure, and reduced sensitivity to pain and temperature. Although symptomatic treatments are available [6], there is no therapy that can slow, halt, or revert the progression of the disease, and patients have significant morbidity and mortality [5]. …