Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease

Abstract

Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

“…Mutations are more common in Asian and Italian patients (Hatano et al , 2004; Valente et al , 2004; Bonifati et al , 2005; Li et al , 2005; Tan et al , 2006), reflecting population-specific allele frequencies. Our findings are consistent with the low prevalence estimates in Northern Europe and North American patients (Healy et al , 2004; Rogaeva et al , 2004). However, contrary to previous reports (Kilarski et al , 2012), we did not find that mutations were more frequent in patients with a family history of Parkinson’s disease (1.1%) compared to sporadic patients (0.5%).…”

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

“…Mutations are more common in Asian and Italian patients (Hatano et al , 2004; Valente et al , 2004; Bonifati et al , 2005; Li et al , 2005; Tan et al , 2006), reflecting population-specific allele frequencies. Our findings are consistent with the low prevalence estimates in Northern Europe and North American patients (Healy et al , 2004; Rogaeva et al , 2004). However, contrary to previous reports (Kilarski et al , 2012), we did not find that mutations were more frequent in patients with a family history of Parkinson’s disease (1.1%) compared to sporadic patients (0.5%).…”

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

“…Two studies, mainly performed on Italian patients, found mutations in a relatively high percentage of patients (7% and 5.9%, respectively) 5, 14. The prevalence was lower according to other studies 8–10, 19. In one report,9 PINK1 mutations were not identified in a group of 86 Irish EOPD patients, which is in line with our results.…”

Editorial: Genetic and molecular diversity in Parkinson's disease

“…Ethnic differences may also play a role in recessive forms of genetic PD. The PINK1 L347P variant, which has not been reported in other populations, had a higher carrier frequency in Filipino people (Rogaeva et al, 2004). A similar observation was also reported recently in Malay ethnic groups (Tan et al, 2020), and two patients of Indian descent in Malaysia (Lim et al, 2021), supporting the pathogenicity of the L347P variant.…”

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

“…Mutations are more common in Asian and Italian patients (Hatano et al , 2004; Valente et al , 2004; Bonifati et al , 2005; Li et al , 2005; Tan et al , 2006), reflecting population-specific allele frequencies. Our findings are consistent with the low prevalence estimates in Northern Europe and North American patients (Healy et al , 2004; Rogaeva et al , 2004). However, contrary to previous reports (Kilarski et al , 2012), we did not find that mutations were more frequent in patients with a family history of Parkinson’s disease (1.1%) compared to sporadic patients (0.5%).…”

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

“…Two studies, mainly performed on Italian patients, found mutations in a relatively high percentage of patients (7% and 5.9%, respectively) 5, 14. The prevalence was lower according to other studies 8–10, 19. In one report,9 PINK1 mutations were not identified in a group of 86 Irish EOPD patients, which is in line with our results.…”

Editorial: Genetic and molecular diversity in Parkinson's disease

“…Ethnic differences may also play a role in recessive forms of genetic PD. The PINK1 L347P variant, which has not been reported in other populations, had a higher carrier frequency in Filipino people (Rogaeva et al, 2004). A similar observation was also reported recently in Malay ethnic groups (Tan et al, 2020), and two patients of Indian descent in Malaysia (Lim et al, 2021), supporting the pathogenicity of the L347P variant.…”

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

“…Mutations are more common in Asian and Italian patients (Hatano et al , 2004; Valente et al , 2004; Bonifati et al , 2005; Li et al , 2005; Tan et al , 2006), reflecting population-specific allele frequencies. Our findings are consistent with the low prevalence estimates in Northern Europe and North American patients (Healy et al , 2004; Rogaeva et al , 2004). However, contrary to previous reports (Kilarski et al , 2012), we did not find that mutations were more frequent in patients with a family history of Parkinson’s disease (1.1%) compared to sporadic patients (0.5%).…”

PINK1 mutations in a Brazilian cohort of early‐onset Parkinson's disease patients

“…Two studies, mainly performed on Italian patients, found mutations in a relatively high percentage of patients (7% and 5.9%, respectively) 5, 14. The prevalence was lower according to other studies 8–10, 19. In one report,9 PINK1 mutations were not identified in a group of 86 Irish EOPD patients, which is in line with our results.…”

Editorial: Genetic and molecular diversity in Parkinson's disease

“…Ethnic differences may also play a role in recessive forms of genetic PD. The PINK1 L347P variant, which has not been reported in other populations, had a higher carrier frequency in Filipino people (Rogaeva et al, 2004). A similar observation was also reported recently in Malay ethnic groups (Tan et al, 2020), and two patients of Indian descent in Malaysia (Lim et al, 2021), supporting the pathogenicity of the L347P variant.…”