Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy, primarily presented in Ashkenazi Jews. The most common mutation in FD patients results from a single base pair substitution of an intronic splice site in the IKBKAP gene which disrupts normal mRNA splicing and leads to tissue-specific reduction of IKBKAP protein (IKAP). To date, treatment of FD patients remains preventative, symptomatic and supportive.

["But I have done the genetic tests...". The obligation to identify genetic carriers and prenatal genetic tests for new mutations].

Introduction: Genetic tests are developing quickly. Therefore, genetic screening tests which were carried out before the first pregnancy are not always sufficient for the subsequent pregnancies. Familial dysautonomia (FD) is a disabling autosomal recessive disorder affecting Ashkenazi Jews in which the carrier frequency varies from 1:17 to 1:32.