scholarly journals An alpha-synuclein MRM assay with diagnostic potential for Parkinson's disease and monitoring disease progression

2017 ◽  
Vol 11 (7-8) ◽  
pp. 1700045 ◽  
Author(s):  
Li Yang ◽  
Tessandra Stewart ◽  
Min Shi ◽  
Gwenael Pottiez ◽  
Romel Dator ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Disease Progression ◽  
Alpha Synuclein ◽  
Diagnostic Potential

Longitudinal changes in CSF alpha-synuclein species reflect Parkinson's disease progression

2016 ◽  
Vol 31 (10) ◽  
pp. 1535-1542 ◽  
Author(s):  
Nour K. Majbour ◽  
Nishant N. Vaikath ◽  
Paolo Eusebi ◽  
Davide Chiasserini ◽  
Mustafa Ardah ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Disease Progression ◽  
Alpha Synuclein ◽  
Longitudinal Changes

scholarly journals Precision medicine in Parkinson’s disease patients with LRRK2 and GBA risk variants – Let’s get even more personal

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Christian U. von Linstow ◽  
Ziv Gan-Or ◽  
Patrik Brundin
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Clinical Trials ◽  
Precision Medicine ◽  
Disease Progression ◽  
Alpha Synuclein ◽  
Motor Symptoms ◽  
Disease Modification ◽  
Risk Variants ◽  
Non Motor Symptoms

Abstract Parkinson’s disease (PD) is characterized by motor deficits and a wide variety of non-motor symptoms. The age of onset, rate of disease progression and the precise profile of motor and non-motor symptoms display considerable individual variation. Neuropathologically, the loss of substantia nigra dopaminergic neurons is a key feature of PD. The vast majority of PD patients exhibit alpha-synuclein aggregates in several brain regions, but there is also great variability in the neuropathology between individuals. While the dopamine replacement therapies can reduce motor symptoms, current therapies do not modify the disease progression. Numerous clinical trials using a wide variety of approaches have failed to achieve disease modification. It has been suggested that the heterogeneity of PD is a major contributing factor to the failure of disease modification trials, and that it is unlikely that a single treatment will be effective in all patients. Precision medicine, using drugs designed to target the pathophysiology in a manner that is specific to each individual with PD, has been suggested as a way forward. PD patients can be stratified according to whether they carry one of the risk variants associated with elevated PD risk. In this review we assess current clinical trials targeting two enzymes, leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA), which are encoded by two most common PD risk genes. Because the details of the pathogenic processes coupled to the different LRRK2 and GBA risk variants are not fully understood, we ask if these precision medicine-based intervention strategies will prove “precise” or “personalized” enough to modify the disease process in PD patients. We also consider at what phases of the disease that such strategies might be effective, in light of the genes being primarily associated with the risk of developing disease in the first place, and less clearly linked to the rate of disease progression. Finally, we critically evaluate the notion that therapies targeting LRRK2 and GBA might be relevant to a wider segment of PD patients, beyond those that actually carry risk variants of these genes.

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