Background and objective In 2004 we described the E46K mutation in alpha-synuclein gene
(E46K-SNCA), a rare point mutation causing an aggressive Lewy body disease with early …

Objective: To investigate (1) whether phosphorylated α-synuclein deposits in skin nerve
fibers might represent a useful biomarker for idiopathic Parkinson disease (IPD), and (2) the …

Heterozygous parkin Parkin mutation Skin alpha synuclein Parkinson's disease α-Synuclein
(α-syn) is the main pathological hallmark of Lewy body diseases, a group of diseases that …

The deposition of alpha-synuclein in the brain, the neuropathological hallmark of
Parkinson's disease (PD), follows a distinct anatomical and temporal sequence. This study …

Background Cutaneous phosphorylated alpha-synuclein (p-α-syn) deposition is an
important biomarker of idiopathic Parkinson's disease (iPD). Recent studies have reported …

Deposition of phosphorylated SNCA (also known as α-synuclein) in cutaneous nerve fibres
has been shown pre-and post-mortem in Parkinson's disease. Thus far, no pre-mortem …

Objective To characterize the expression in skin nerves of native (n‐syn) and misfolded
phosphorylated (p‐syn) α‐synucleins in pure autonomic failure (PAF) and idiopathic …

Background: Parkinson disease (PD) is neurodegenerative disorder characterized by
tremor, rigidity and bradykinesia and pathologically by the deposition of alpha-synuclein …

Background: The role of peripheral phosphorylated-α-Synuclein (p-α-syn) deposition on
nerve degeneration in synucleinopathies is still unknown. Objective: To assess the …

Background: Previous studies reported skin phosphorylated α-synuclein (p-syn) deposits in
Parkinson's disease (PD) patients but not in patients with parkinsonism due to tauopathies …