OBJECTIVE: The aim of this study was to analyze autonomic function and cardiac
sympathetic innervation in symptomatic and asymptomatic carriers of the E46K alpha-
synuclein gene (SNCA) mutation. PATIENTS AND METHODS: Autonomic function tests
were performed in six patients, four of whom were symptomatic carriers (ages: 46, 59, 52
and 28-years) and two who were asymptomatic carriers (ages: 52 and 29 years). Autopsy
studies were performed on an additional two symptomatic carriers not eligible for autonomic …

Background: Sympathetic denervation of the heart is frequent in patients with sporadic and
genetic synucleinopathies. In 2004, we described a new mutation in the synuclein gene
(E46K). The aim of this study was to analyze autonomic function and cardiac sympathetic
innervation in symptomatic and asymptomatic carriers of this mutation. Patients and
methods: We studied 6 members of the original family, four symptomatic,(ie, with
parkinsonism, ages 88, index case, deceased, 46, 59 and 52 years) and two asymptomatic …