… failure with sympathetic denervation; and healthy volunteers (HVs). … An asymptomatic
carrier of a SNCA duplication also received … E46K mutation carrier, suggesting that peripheral …

… the characteristics of cutaneous nerve p-α-syn or α-syn deposits and their … gene mutations.
This review can serve as a reference for the diagnosis and classification of PD based on α-…

… cardiac sympathetic denervation was found in symptomatic and asymptomatic carriers (… An
in vitro study using primary neuron cultures suggested the pathological E46K SNCA mutation …

… , E46K, H50Q, G51D, and A53T missense mutants in the presence of lipid vesicles. These
findings have important implications regarding the interplay between the lipids required for αS …

… -positive at motor symptom onset) and brain-first PD (RBD-negative at motor symptom onset),
we … in de novo PD patients with cardiac sympathetic denervation measured by 123 I-MIBG …

… , sympathetic denervation and … E46K mutation within the α-synuclein gene was notably
associated with significant degeneration of cardiac sympathetic nerves in both symptomatic …

… point-mutation in the alpha-synuclein gene, the E46K-SNCA, … Some patients may be
asymptomatic despite substantial falls … scan can demonstrate cardiac sympathetic denervation in …

… gene copy number alterations, the point mutation E46K and … To quantify co-localization of
phosphorylated αsynuclein with … , from the asymptomatic to the symptomatic stage, assessing …

… from non/early-symptomatic to symptomatic stage, unequivocally … used to detect cardiac
sympathetic denervation in early PD … in PD, and genetic linkage between mutations in the SNCA …

… symptomatic and asymptomatic SNCA E46K carriers exhibit … that LRRK2 G2019S mutation
carriers had increased beat-to-… It has been used to assess cardiac sympathetic denervation in …