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Abstract Details

Dopaminergic Neuronal Imaging in Parkinson’s disease parkin mutation patients and potential pathophysiologic insights of simple heterozygous patients: A clinical DAT-SPECT study
Movement Disorders
P10 - Poster Session 10 (5:30 PM-6:30 PM)
3-015
We intend to study whether Datscan could be used as a surrogate marker of parkin related pathology not only in compound heterozygous and homozygous patients (cHET/HOMO), as well as in simple heterozygous (sHET) parkin PD patients.
Genetic mutations can be detected in about 3% of patients with Parkinson’s disease (PD). However its importance goes far beyond diagnosis and in fact, several clinical trials with neuroprotective intend are now being designed targeting known genetic pathways. Previous studies with Datscan showed that parkin PD patients could present a particular pattern in this exam.
We conducted an observational case-control study, of patients with PD, with parkin mutation in our center from 2005-2019. Three groups of patients were compared: cHET/HOMO parkin (n=7), sHET parkin (n=11) and idiopathic PD (iPD) patients (n=11). The outcome of our study was the calculated specific non-displaceable binding potentials in caudate, putamen and striatum, as well as asymmetry ratios between both sides of these regions of interest. The volume and length of the most affected striatum were also compared. 

We found no significant differences between parkin PD subgroups and within each subgroup of parkin mutation patients and iPD patients concerning all the DAT-SPECT outcomes assessed. Simple heterozygous parkin-PD patients do present an intermediate age of onset between cHET/HOMO parkin and iPD patients and intermediate median values of specific binding ratios of Datscan, however, these did not reach statistical significance in our study.
We were not able to find a particular pattern of dopaminergic loss in the Datscan of parkin PD patients that could be used as a surrogated marker of parkin-related pathology.
Authors/Disclosures
Mario Sousa, MD (UHN Toronto Western Hospital)
PRESENTER 		Dr. Sousa has nothing to disclose.
Mario Sousa, MD (UHN Toronto Western Hospital) Dr. Sousa has nothing to disclose.
Mario Sousa, MD (UHN Toronto Western Hospital) Dr. Sousa has nothing to disclose.
Maria Rosario G. Almeida, MD (Centro Hospitalar Tamega e Sousa) No disclosure on file
Mario Sousa, MD (UHN Toronto Western Hospital) Dr. Sousa has nothing to disclose.
No disclosure on file
Maria Rosario G. Almeida, MD (Centro Hospitalar Tamega e Sousa) No disclosure on file
Ana Sofia Morgadinho, MD (Hospital Da Unversidade Coimbra) No disclosure on file
Cristina Januario, MD (R Miguel Torga QTA Alpoes) No disclosure on file