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- Title
Precision Dopaminergic Treatment in a Cohort of Parkinson's Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review.
- Authors
Koros, Christos; Simitsi, Athina-Maria; Papagiannakis, Nikolaos; Bougea, Anastasia; Antonelou, Roubina; Pachi, Ioanna; Sfikas, Evangelos; Stanitsa, Evangelia; Angelopoulou, Efthalia; Constantinides, Vasilios C.; Papageorgiou, Sokratis G.; Potagas, Constantin; Stamelou, Maria; Stefanis, Leonidas
- 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 (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.
- Subjects
RECESSIVE genes; PARKINSON'S disease; GENETIC variation; DOPAMINE agonists; DOPA
- Publication
Neurology International, 2024, Vol 16, Issue 4, p833
- ISSN
2035-8377
- Publication type
Article
- DOI
10.3390/neurolint16040062