Open AccessArticle
Precision Dopaminergic Treatment in a Cohort of Parkinson’s Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review
by
Christos Koros, Athina-Maria Simitsi, Nikolaos Papagiannakis, Anastasia Bougea, Roubina Antonelou, Ioanna Pachi, Evangelos Sfikas, Evangelia Stanitsa, Efthalia Angelopoulou, Vasilios C. Constantinides, Sokratis G. Papageorgiou, Constantin Potagas, Maria Stamelou and Leonidas Stefanis
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Abstract
Introduction: Parkinson’s disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce. Methods: Demographic and treatment data of a cohort
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Introduction: Parkinson’s disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce. Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (nine homozygous or compound heterozygous
PRKN carriers, four heterozygous
PRKN carriers, and three biallelic
PINK1 carriers) were evaluated. Results: The average levodopa equivalent daily dose (LEDD) was 806.8 ± 453.5 (range 152–1810) in
PRKN carriers and 765 ± 96.6 (range 660–850) in
PINK1 carriers. The majority responded to low/moderate doses of levodopa. The response to dopamine agonists (DAs) was often favorable both as initial and longitudinal therapy. In total, 8/13
PRKN and 1/3
PINK1 carriers were treated with amantadine successfully, and this also applied to patients who could not tolerate levodopa or DAs. Conclusions: In the era of personalized treatment, the therapeutic approach in recessive PD gene carriers might differ as compared to idiopathic PD. Lower LEDD doses were efficient even in patients with a very long disease duration, while a few patients were doing well without any levodopa treatment decades after disease initiation. DAs or amantadine could be used as a first and main line treatment regimen if well tolerated. Literature data on therapeutic strategies in carriers of pathogenic mutations in recessive PD genes, including device-aided treatments, will be further discussed.
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