Jornal de Neurologia e Neurociência

• Página inicial do diário
• Arquivo
Autores
• Diretrizes para Autores
• Enviar manuscrito
Em detalhe
• Objetivo e escopo
• Ética de publicação
• Processo de revisão por pares
• direito autoral
• Contate-nos

Abstrato

Beta-Glucocerebrosidase Gene Mutations P.Asn409Ser and P.Leu483Pro in Polish Patients with Parkinson's Disease

Zygmunt Jamrozik, Agnieszka Lugowska, Dariusz Kosiorowski, Andrzej Friedman, Jaroslaw Slawek, Piotr Janik, Anna Potulska-Chromik, Magdalena KuzmaKozakiewicz, Agnieszka Wisniewska, Michal Szubiga, Monika Rudzinska, Andrzej Szczudlik and Dorota HZ

Background: The aim of his study was to evaluate the frequency of two most frequent GBA gene mutations in heterozygote state in patients with early and later onset Parkinson's disease in Polish populations.

Methods and findings: Patients with Parkinson's disease; 115 non-demented with early onset disease (<45 year-old) and 155 patients with onset over 45 year-old were recruited to the study. The p.Asn409Ser and p.Leu483Pro screening was performed with the PCR-RFLP and direct sequencing methods. In the group of 270 PD patients, 11 heterozygotes for mutations in the GBA gene were identified (carrier frequency 4.07%). Among patients with early onset disease carrier frequency was 4.34% compared to 3,87% in the group of later onset.

Conclusion: The study yielded that carrier frequency of GBA mutation in polish population was comparable to other European populations p.Asn409Ser mutation dominates in patients with early onset PD disease