[HTML][HTML] Clinical and imaging evidence of brain-first and body-first Parkinson's disease

J Horsager, K Knudsen, M Sommerauer - Neurobiology of disease, 2022 - Elsevier
… -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 …

The prion-like spreading of alpha-synuclein in parkinson's disease: Update on models and hypotheses

A Jan, NP Gonçalves, CB Vaegter, PH Jensen… - International journal of …, 2021 - mdpi.com
… 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 …

Genotype-phenotype correlations in monogenic Parkinson disease: a review on clinical and molecular findings

D Guadagnolo, M Piane, MR Torrisi, A Pizzuti… - Frontiers in …, 2021 - frontiersin.org
… Brain imaging alterations have been found in LRRK2 mutation carriers. … documented in
symptomatic and asymptomatic LRRK2 carriers compared to … E46K asymptomatic carriers (81). …

Autonomic dysfunction is associated with neuropsychological impairment in Lewy body disease

R Del Pino, A Murueta-Goyena, M Acera… - Journal of …, 2020 - Springer
… bodies, and 5 E46K-SNCA mutation carriers] and 22 healthy … clinical measures, autonomic
symptom assessment with the … ] and 5 E46K-SNCA symptomatic mutation carriers) through …

Precision medicine in parkinson's disease: From genetic risk signals to personalized therapy

G Straccia, F Colucci, R Eleopra, R Cilia - Brain Sciences, 2022 - mdpi.com
asymptomatic carriers of genetic mutations. In this perspective, the … E46K missense mutations
induce early-onset parkinsonism … hypotension and myocardial sympathetic denervation are …

Assessing autonomic dysfunction with functional imaging in Parkinson's disease

J Horsager, C Skjærbæk, P Borghammer - International Review of …, 2021 - Elsevier
mutations listed above, of six carriers with the E46K mutation … and one of two asymptomatic
carriers had an abnormal scan (… , that the cardiac sympathetic denervation predate the onset …

Lewy bodies, iron, inflammation and neuromelanin: pathological aspects underlying Parkinson's disease

P Riederer, T Nagatsu, MBH Youdim, M Wulf… - Journal of Neural …, 2023 - Springer
… ɑ-Synuclein (ɑ-syn, encoded by the SNCA gene) is a major component of LBs, and SNCA
missense mutations or duplications/triplications are causal for rare hereditary forms of PD. …

Identification of pharmacological approaches blocking alpha-synuclein synaptic toxicity

E Ferrari - 2021 - air.unimi.it
Misfolding and aggregation of the synaptic protein alpha-synuclein (αsyn) is, at present,
considered one of the main drivers of the pathogenesis of Parkinson’s disease (PD). PD is a …

[HTML][HTML] Loss of olfactory function—early indicator for covid-19, other viral infections and neurodegenerative disorders

H Rebholz, RJ Braun, D Ladage, W Knoll… - Frontiers in …, 2020 - frontiersin.org
… One symptom of the disease has not been fully recognized … not patients with the α-synuclein
E46K mutation (144, 145). … in asymptomatic carriers of the Huntington disease gene were …

MicroRNAs as diagnostic biomarkers of Parkinson's disease

J Roy - 2021 - ourarchive.otago.ac.nz
… It is a heterogeneous disease caused by the complex interactions between genetic and
environmental risk factors. The cardinal motor features of PD include a resting tremor, …