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Background
Molecular pathways associated with α‐synuclein proteostasis have been detected in genetic studies and in cell models and include autophagy, ubiquitin‐proteasome system, mitochondrial homeostasis, and synaptic plasticity. However, we lack biomarkers that are representative for these pathways in human biofluids.
Objective
The objective of this study was to evaluate CSF protein profiles...
Background
The SNCA gene encoding α‐synuclein (αSyn) is the first gene identified to cause autosomal‐dominant Parkinsonʼs disease (PD).
Objective
We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and describe clinical features of affected patients, genetic findings, and functional consequences.
Methods
Whole exome sequencing was performed in the...