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Precision Dopaminergic Treatment in a Cohort of Parkinson’s disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review
Koros, C.; Simitsi, A.-M.; Papagiannakis, N.; Bougea, A.; Antonelou, R.; Pachi, I.; Sfikas, E.; Stanitsa, E.; Angelopoulou, E.; Constantinides, V.C.; Papageorgiou, S.G.; Potagas, C.; Stamelou, M.; Stefanis, L. Precision Dopaminergic Treatment in a Cohort of Parkinson’s Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review. Neurol. Int.2024, 16, 833-844.
Koros, C.; Simitsi, A.-M.; Papagiannakis, N.; Bougea, A.; Antonelou, R.; Pachi, I.; Sfikas, E.; Stanitsa, E.; Angelopoulou, E.; Constantinides, V.C.; Papageorgiou, S.G.; Potagas, C.; Stamelou, M.; Stefanis, L. Precision Dopaminergic Treatment in a Cohort of Parkinson’s Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review. Neurol. Int. 2024, 16, 833-844.
Koros, C.; Simitsi, A.-M.; Papagiannakis, N.; Bougea, A.; Antonelou, R.; Pachi, I.; Sfikas, E.; Stanitsa, E.; Angelopoulou, E.; Constantinides, V.C.; Papageorgiou, S.G.; Potagas, C.; Stamelou, M.; Stefanis, L. Precision Dopaminergic Treatment in a Cohort of Parkinson’s Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review. Neurol. Int.2024, 16, 833-844.
Koros, C.; Simitsi, A.-M.; Papagiannakis, N.; Bougea, A.; Antonelou, R.; Pachi, I.; Sfikas, E.; Stanitsa, E.; Angelopoulou, E.; Constantinides, V.C.; Papageorgiou, S.G.; Potagas, C.; Stamelou, M.; Stefanis, L. Precision Dopaminergic Treatment in a Cohort of Parkinson’s Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review. Neurol. Int. 2024, 16, 833-844.
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 of PD carriers of recessive genes (9 homozygous or compound heterozygous PRKN carriers, 4 Heterozygous PRKN carriers and 3 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 (DA) was often favorable both as initial and longitudinal therapy. 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 DA. 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. DA 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.
Medicine and Pharmacology, Neuroscience and Neurology
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