A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia

Kaiyrzhanov, Rauan; Aitkulova, Akbota; Vandrovcová, Jana; Murphy, David; Zharkinbekova, Nazira; Shashkin, Chingiz; Akhmetzhanov, Vadim; Kaishibayeva, Gulnaz; Karimova, Altynay; Myrzayev, Zhanybek; Murray, Malgorzata; Хайбуллин, Т Н; Hardy, John; Houlden, Henry

doi:10.1002/mgg3.1671

Cited by 7 publications

(7 citation statements)

References 30 publications

(38 reference statements)

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“…The rising trend of YLDs was based on the increasing prevalence and prolonged life expectancy of PD patients. Meanwhile, early onset PD with high genetic susceptibility ( 49 , 50 ), longer disease duration ( 51 ), and low adherence to treatment ( 52 , 53 ), could prolong the course of disability. Some PD is accompanied by stroke ( 54 ), dementia ( 55 ), and dysphagia ( 56 ), which also contributes to the increase in disability.…”

Section: Discussionmentioning

confidence: 99%

Global Trends in the Incidence, Prevalence, and Years Lived With Disability of Parkinson's Disease in 204 Countries/Territories From 1990 to 2019

Pan

Tang

et al. 2021

Front. Public Health

246

168

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Background: Parkinson's disease (PD) is an increasing challenge to public health. Tracking the temporal trends of PD burden would inform health strategies.Methods: Data of PD burden was obtained from the Global Burden of Disease 2019. Trends in the incidence, prevalence, and years lived with disability (YLDs) of PD were estimated using the annual percentage change (EAPC) and age-standardized rate (ASR) from 1990 to 2019. The EAPCs were calculated with ASR through a linear regression model.Results: The overall ASR of the incidence, prevalence, and YLDs of PD increased from 1990 to 2019, and their EAPCs were 0.61 (95% confidence interval [CI]: 0.58–0.65), 0.52 (95% CI: 0.43–0.61), and 0.53 (95% CI: 0.44–0.62). The largest number of PD patients was seen in the groups aged more than 65 years, and the percentage rapidly increased in the population aged more than 80 years. Upward trends in the ASR of PD were observed in most settings over the past 30 years. Incident trends of ASR increased pronouncedly in the United States of America and Norway, in which the respective EAPCs were 2.87 (95% CI: 2.35–3.38) and 2.14 (95% CI: 2.00–2.29). Additionally, the largest increasing trends for prevalence and YLDs were seen in Norway, with the respective EAPCs of 2.63 (95% CI: 2.43–2.83) and 2.61 (95% CI: 2.41–2.80). However, decreasing trends in PD appeared in about 30 countries, particularly Italy and the Republic of Moldova.Conclusions: Increasing trends in the burden of PD were observed globally, and in most regions and countries from 1990 to 2019. Our findings suggested that the control and management of PD should be strengthened, especially when considering the aging tendency of the population.

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Section: Discussionmentioning

confidence: 99%

Global Trends in the Incidence, Prevalence, and Years Lived With Disability of Parkinson's Disease in 204 Countries/Territories From 1990 to 2019

Pan

Tang

et al. 2021

Front. Public Health

246

168

View full text Add to dashboard Cite

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“…Parkinson disease is the second most common age-related neurodegenerative disease in the world and is responsible for significant disability and increased risks of dementia and mortality [11][12][13][14] . Data drawn from younger onset cases, multiincident families, individuals with risk markers for PD are crucial for exploring the molecular mechanisms of disease and identifying the clinical and biological changes occurring in the preclinical and prodromal periods, which may ultimately lead to effective neuroprotection [15][16][17][18][19][20][21][22][23][24][25][26] . In turn, population-level estimates of PD burden are crucial for health care and health policy, for advocating for appropriate research funding and insurance coverage for treatment and for minimizing drug shortages.…”

Section: Discussionmentioning

confidence: 99%

Incidence of Parkinson disease in North America

Willis

Roberts²,

Beck

et al. 2022

npj Parkinsons Dis.

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Parkinson disease (PD) is the second most common age-related neurodegenerative condition diagnosed in North America. We recently demonstrated, using multiple epidemiological data sources, that the prevalence of PD diagnoses was greater than previously reported and currently used for clinical, research, and policy decision-making. Prior PD incidence estimates have varied, for unclear reasons. There is a need for improved estimates of PD incidence, not only for care delivery planning and future policy but also for increasing our understanding of disease risk. The objective of this study was thus to investigate the incidence of Parkinson disease across five epidemiological cohorts in North America in a common year, 2012. The cohorts contained data on 6.7 million person-years of adults ages 45 and older, and 9.3 million person-years of adults ages 65 and older. Our estimates of age-sex-adjusted incidence of PD ranged from 108 to 212 per 100,000 among persons ages 65 and older, and from 47 to 77 per 100,00 among persons ages 45 and older. PD incidence increased with age and was higher among males. We also found persistent spatial clustering of incident PD diagnoses in the U.S. PD incidence estimates varied across our data sources, in part due to case ascertainment and diagnosis methods, but also possibly due to the influence of population factors (prevalence of genetic risk factors or protective markers) and geographic location (exposure to environmental toxins). Understanding the source of these variations will be important for health care policy, research, and care planning.

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“…One Iranian patient with the p.Arg1441Cys mutation was reported by Shojaee et al (2009a). In a study of Kazakhstani PD patients no p.Arg1441His carriers were observed, though in a later study of this population carried out among EOPD patients p.Arg1441Cys mutation was found in two unrelated familial PD cases (Kaiyrzhanov et al, 2020(Kaiyrzhanov et al, , 2021. Two p.Arg1441Cys carriers were identified in a Chinese population in another study.…”

Section: Parg1441cys Parg1441gly Parg1441hismentioning

confidence: 95%

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease

Turski

Chaberska²,

Szukało³

et al. 2022

Front. Neurosci.

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Parkinson’s disease (PD) is a heterogenous neurodegenerative disorder. Genetic factors play a significant role, especially in early onset and familial cases. Mutations are usually found in the LRRK2 gene, but their importance varies. Some mutations, such as p.Arg1441Cys or other alterations in the 1441 codon, show clear correlation with PD, whereas others are risk factors found also in healthy populations or have neglectable consequences. They also exhibit various prevalence among different populations. The aim of this paper is to sum up the current knowledge regarding the epidemiology and pathogenicity of LRRK2 mutations, other than the well-established p.Gly2019Ser. We performed a review of the literature using PubMed database. 103 publications met our inclusion criteria. p.Arg1441Cys, p.Arg1441Gly, p.Arg1441His, p.Arg1441Ser are the most common pathogenic mutations in European populations, especially Hispanic. p.Asn1437His is pathogenic and occurs mostly in the Scandinavians. p.Asn1437Ser and p.Asn1437Asp have been reported in German and Chinese cohorts respectively. p.Ile2020Thr is a rare pathogenic mutation described only in a Japanese cohort. p.Met1869Thr has only been reported in Caucasians. p.Tyr1699Cys, p.Ile1122Val have only been found in one family each. p.Glu1874Ter has been described in just one patient. We found no references concerning mutation p.Gln416Ter. We also report the first case of a Polish PD family whose members carried p.Asn1437His.

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A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 7 publications

References 30 publications

Global Trends in the Incidence, Prevalence, and Years Lived With Disability of Parkinson's Disease in 204 Countries/Territories From 1990 to 2019

Global Trends in the Incidence, Prevalence, and Years Lived With Disability of Parkinson's Disease in 204 Countries/Territories From 1990 to 2019

Incidence of Parkinson disease in North America

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease

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