by Antonella Macerollo
This amazing session was focused on the current diagnostic biomarkers to improve the differential diagnosis of parkinsonian syndromes, which is still the highest challenge in the movement disorder clinical practice. The session covered broad updates on several types of biomarkers including imaging, genetic and laboratory.
Prof. Rektorova from Czech Republic gave an overview of the latest neuroimaging biomarkers in parkinsonian syndrome. In particular she highlighted the need for imaging markers to investigate some typical non-motor symptoms of parkinsonian syndromes such as REM sleep behavior disorder.
For instance, DAT scan in this group of patients with early onset of REM sleep disorder would highly predict the transition to Parkinson’s Disease in a timeline of 3-5 years.
Prof. Di Fonzo from Italy discussed the available genetic tests to differentiate the different subtypes of Parkinson’s Disease and Synucleinopathies and, consequently, improving the management. Indeed, the phenotype associated to SNCA mutations is characterised by a variable onset between 35 to 76 years with a specific early cognitive decline and hallucinations. This information is very important for making decisions about possible advance treatments, which should be avoided in the presence of cognitive impairment and psychiatric comorbidities (i.e. deep brain stimulation).
The third lecture discussed ongoing evidence of laboratory biomarkers for synucleinopathies. Prof. Per Svenningsson from Sweden explained the confirmed role of GBA as a genetic risk marker for Parkinson’s Disease and cognitive decline. Interestingly, α-synuclein aggregation has been found to have the most specific and sensitive CSF biomarker for Parkinson’s Disease. In addition, low Aβ1-42 and high neurofilament light chain levels in the CSF as a predictive factor for dementia in the synucleinopathies syndromes and, thus, are important laboratory data to help the clinician in the differential diagnosis between idiopathic Parkinson’s Disease and atypical parkinsonisms.
The last lecture of the session was delivered by Prof. Fleming Outeiro from Germany. This lecture was regarding the role of pathological spreading of alpha-synuclein in Parkinson’s disease as a biomarker for an early and precise diagnosis but also as target for therapies in development. Indeed, disease modified therapies are still an unmet need in the field of neurodegenerative diseases such as Parkinson’s Disease. Therefore, the discovery of a target for intervention is a crucial step to change the course of the disease.
Overall, this session chaired by Prof Antonini and Prof Rektorova was an opportunity to highlight the essential role of the multidisciplinary approach in the diagnosis and management of neurodegenerative disorders.