… abnormalities and myocardial sympathetic denervation are … severe in the asymptomatic
E46K-SNCA mutation carrier (A02… carriers, regardless of being symptomatic or asymptomatic. …

… 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 …

… The PNS-first (RBD-positive) patients initially show cardiac sympathetic denervation …
symptomatic carriers (n = 4) and 2 of 3 asymptomatic carriers of the E46K PARK-1 mutation had …

… myocardial sympathetic denervation as measured by MIBG scintigraphy in patients with a
wide spectrum of genetic … , PARK1 symptomatic carriers of E46K mutation in the SNCA gene; …

… , 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 …

… cardiovascular reflexes [9] in asymptomatic carriers of leucine-rich repeat kinase 2 (LRRK2)
mutations … I, our working hypothesis is that cardiac sympathetic denervation is present in …

… -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 …

… 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 …