info:eu-repo/semantics/article
Early motor response to dopamine replacement therapy in Parkinson's disease patients carrying GBA variants
Registro en:
Rossi, Malco Damian; Castillo Torres, Sergio A.; Merello, Marcelo Jorge; Early motor response to dopamine replacement therapy in Parkinson's disease patients carrying GBA variants; Elsevier Science; Journal of the Neurological Sciences; 440; 120354; 9-2022; 1-5
0022-510X
1878-5883
CONICET Digital
CONICET
Autor
Rossi, Malco Damian
Castillo Torres, Sergio A.
Merello, Marcelo Jorge
Resumen
Background: Mutations in the glucocerebrosidase (GBA) gene represent the most common genetic risk factor for Parkinson's Disease (PD) and are associated with a more aggressive motor phenotype at late stages. However, the motor response at early stages of disease remains understudied. Methods: Retrospective study of PD patients that underwent next-generation sequencing panel tests for PD-related genes. We extracted demographic data and the MDS-UPDRS III response to an acute levodopa challenge (LDC), the best ON score, and the levodopa equivalent daily dose (LEDD) during the first six months after the LDC and initiation of DRT. We compared the response of GBA-PD patients to that of patients without pathogenic variants or rearrangements in other PD related genes (sporadic PD). Results: 13 GBA-PD and 48 sporadic PD patients were identified. Baseline MDS-UPDRS III score (24.6 ± 9.6 vs. 21.8 ± 9.3. p = 0.4), response to LDC (39.2% ± 7.9% vs. 32.7% ± 13.4%; p = 0.1), best ON score (36.9% ± 39.5% vs. 41.6% ± 20.8%; p = 0.6) and LEDD (188 mg ± 100 mg vs. 261.8 mg ± 164.8 mg; p = 0.2) during the first six months after initiation of DRT were not different between GBA-PD and sporadic PD patients. Conclusions: At early disease stages of GBA-PD, the motor response to acute levodopa challenge test and the initial response to DRT are similar to that of patients with sporadic PD. Although limited by small sample size, these preliminary findings should be confirmed by future prospective larger studies. Fil: Rossi, Malco Damian. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Castillo Torres, Sergio A.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina