Dados do Trabalho

Título

Genetic analysis of a cohort of Idiopathic Parkinson's Disease in Amazonas

Resumo

Introduction: In the last 15 years, studies on Idiopathic Parkinson's Disease (PD) have advanced considerably, gaining knowledge about the genetic forms. However, complete information on the impact of these mutations, especially LRRK2 and GBA, on the clinical aspects of these patients is still lacking.
General objective: To determine the frequency of LRRK2 and GBA mutations in a population of PD patients in Amazonas and to determine the influence of mutations on the clinical course of patients

Method: A cross-sectional cohort study with a multicenter character was performed to analyze the genetic forms of ILD. Blood samples were collected from 57 patients and initially analyzed for mutations in the GBA and LRRK2 genes, and 68 other genes were subsequently analyzed if the first analysis was negative. The clinical data was evaluated, comparing the evolutionary aspects of the disease between carriers and non-carriers of mutations.

Results: After analyzing 57 patients, 2 cases with a mutation in the GBA gene (3.5%) and 3 cases with LRRK2 mutation (5.2%) were found. For the analysis of clinical data, we had access to 31 patients, of which 2 were carriers of LRRK2 mutation and 1 of GBA mutation. Patients' ages ranged from 32 to 89 years (mean = 58.6 years). Age at onset of symptoms ranged from 27 to 81 years (mean = 51 years). Among patients with the LRRK2 mutation, the mean age at onset of symptoms was 56 years, and in the GBA mutation, it was 49 years.
Regarding the cognitive pattern, 19 of the 28 patients without mutations had moderate to severe cognitive decline (2 to 4 in the UPDRS), less intense in LRRK2 carriers (one patient with a score of 1 and a patient with 3) and mild in the patient GBA carrier, with a score of 1. The presence of hallucinations was less frequent in carriers of mutations than in non-carriers, with 1 case in LRRK2 mutation, against 11 cases in non-carriers. Sleep disturbances were more frequent and intense in those without the mutation (26 cases), against none in GBA mutation and one moderate case in LRRK2.

Conclusion: The genetic analysis of this population showed the presence of 5 mutation carriers in the 57 patients studied (8.7%). In the clinical analysis, patients without mutations showed greater intensity of cognitive complications, hallucinations, and sleep disorders. The small study sample limits the broadening of the results.