Parkinson’s Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care

Our understanding of Parkinson’s disease (PD) has significantly accelerated over the last few years, but predominant advances have been made in developed, Western countries. Little is known about PD in the Central Asian (CA) and Transcaucasian (TC) countries. Here, we review the clinical characteristics, treatments used, epidemiology, and genetics of PD in CA and TC countries via a methodological search in MEDLINE, EMBASE, Scopus, Web of Science, and Google Scholar databases. For the acquisition of PD care-related data, the search was extended to the local web resources. Our findings showed that PD prevalence in the region is averaging 62 per 100,000 population. The mean age of onset is 56.4 ± 2.8 in females and 63.3 ± 3.5 in males. Large-scale national studies on PD prevalence from the region are currently lacking. A limited number of genetic studies with small cohorts and inconclusive results were identified. The G2019S LRRK2 mutation, the commonest mutation in PD worldwide, was found in 5.7% of patients with idiopathic PD and 17.6% of familial cases in 153 Uzbek patients. Our review highlighted systematic deficiencies in PD health care in the region including lacks of neurologists specializing in PD, delays in PD diagnosis, absence of specialized PD nurses and PD rehab services, limited access to PD medications and surgery, and the unavailability of PD infusion therapies. Overall, this article demonstrated the paucity of data on this common neurological disorder in CA and TC countries and identified a number of healthcare areas that require an urgent consideration. We conclude that well-designed large-scale epidemiological, genetic, and clinical studies are desperately needed in this region. Healthcare professionals, local and national institutions, and stakeholders must come together to address deficiencies in PD healthcare systems in CA and TC countries.

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The prevalence of Parkinson’s disease among Vilnius inhabitants

Open Medicine ◽

10.2478/s11536-008-0014-1 ◽

2008 ◽

Vol 3 (2) ◽

pp. 195-198 ◽

Cited By ~ 1

Author(s):

Vaineta Valeikiene ◽

Jelena Ceremnych ◽

Diana Mieliauskaite ◽

Vidmantas Alekna

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Mini Mental State Examination ◽

Disease Onset ◽

Time Frame ◽

Study Group ◽

Men And Women ◽

The Mean ◽

State Examination ◽

Made In

AbstractIn a hospital-based study we investigated the prevalence of Parkinson’s disease among inhabitants of the Vilnius city, the capital of Lithuania. The study group was selected from patients who were diagnosed with Parkinson’s disease during the time frame of 1978-2005. Patients’ time of diagnosis were based on the data of dispensary cards, registration journals and/or other documentation. A questionnaire and Mini Mental State Examination provided data for analysis on the conditions of the patients. The prevalence of Parkinson’s disease in Vilnius is 1.32/1000 inhabitants and is higher in men than in women (p < 0.05). The age of Parkinson’s disease onset in men and women is the same (63.77 ± 0.70 years). The rigidity-tremor form of Parkinson’s disease is the most frequent (76.8% of all cases). The PD prevalence rate in Vilnius inhabitants are close to the mean levels observed in studies made in Finland, Austria, Germany. The prevailing form of Parkinson’s disease is rigidity-tremor.

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Pink1 type of Early Onset Parkinson’s disease(EOPD)in Sudanese patients, 2018

Sudan Journal of Medical Sciences ◽

10.18502/sjms.v14i3.5207 ◽

2019 ◽

Author(s):

Etedal Ahmed A. Ibrahim ◽

Samer Abdalaziz Albasher

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Family History ◽

Early Onset ◽

Age Of Onset ◽

Age At Onset ◽

Age Group ◽

Pink1 Gene ◽

The Mean ◽

Early Onset Parkinson’S Disease

Background: Parkinson’sDisease (PD) is a neurodegenerative disorder affecting the motor system. It is a chronic progressive disorder which leads to long standing disability. Objective: To study the Presentations and pink1 gene in young Sudanese patients with Parkinson’s disease . Material and Methods: A prospective study was conducted among 31 PD patients at the National center for Neurological Science (NCNS) at Khartoum state. A structured questionnaire was used for data collection. Consisted of personal data, clinical presentations and investigations. RT-PCR technique using G-spin™ kit. PINK1 gene was detected in most of the samples it was strongly positive. The data was analyzed using SPSS version 21. Results:. The majority of them 19 (61%) were located in age group 41 – 50 years; the mean age of onset was 33.4+_12 yrs. 19 (61%) of the subjects were males and 12 (39%) were female with ratio 1.6:1 (M: F), 20 (64.5%) were married. , 8 (40%) were endogamous married. 5 (62.5%) were second degree and 3 (37.5%) were third degree. 17 (85%) had children, 2 (10%) of the patient had children with Parkinson’s disease. 22 (71%) had duration more than 12 months, 12 (39%) age more than 40 years. 29 (93.5%) had tremor, 27 (87.1%) had rigidity and 23 (74.2%) had bradykinesia. 14 (45%) had positive family history of Parkinson’s disease. PINK1 gene expression was detected in 28 (90.3%) of the patients. no significant associations were found between PINK1 expression with age, gender, age at onset and family history (P> 0.05). Conclusion: This study concludes that early onset PD was common among male than female. The most affected age group was found to be 41 – 50 years and the mean age of onset 33.4yrs. Also, the patterns of the clinical features were generally similar to literature. PINK1 expression was predominant with no significant associations were found between PINK1 expression with age, gender, age at onset and family history. Key words: , Early onset,, Parkinson’s disease, Pink1 gene, Sudan.

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Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis ofSNCA,PARKIN,PINK1andDJ-1Genes

Disease Markers ◽

10.1155/2012/218642 ◽

2012 ◽

Vol 32 (3) ◽

pp. 173-178 ◽

Cited By ~ 7

Author(s):

Karla Cristina Vasconcelos Moura ◽

Mário Campos Junior ◽

Ana Lúcia Zuma de Rosso ◽

Denise Hack Nicaretta ◽

João Santos Pereira ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Age Of Onset ◽

Copy Number Variations ◽

Genetic Studies ◽

Amplification Method ◽

Disease Mutations ◽

Exon 1 ◽

Sporadic Cases ◽

Disease Analysis

Parkinson’s disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson’s disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson’s disease mutations, mainly forPARKINgene. In the present study, we screened genomic rearrangements inSNCA,PARKIN,PINK1andDJ-1genes in 102 Brazilian Parkinson’s disease patients with early onset (age of onset ≤ 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealedPARKINandPINK1copy number variations, but no dosage alteration was found inSNCAandDJ-1genes. Most of the carriers harbor heterozygous deletions or duplications in thePARKINgene and only one patient was found to have a deletion inPINK1exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson’s disease genetic studies.

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Familial Parkinson's Disease: Possible Role of Environmental Factors

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100026664 ◽

1987 ◽

Vol 14 (3) ◽

pp. 303-305 ◽

Cited By ~ 51

Author(s):

Susan Calne ◽

Bruce Schoenberg ◽

Wayne Martin ◽

Ryan J. Uitti ◽

Peter Spencer ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Age Of Onset ◽

Mean Difference ◽

Environmental Damage ◽

Age Related ◽

Children And Parents ◽

The Central Nervous System ◽

The Mean

ABSTRACT:We report here six families with Parkinson's disease in whom the onset of symptoms tended to occur at approximately the same time irrespective of the age of the patient. The mean difference in the time of onset in different generations was 4.6 years while the mean difference in age of onset in children and parents was 25.2 years. We construe this pattern of age separation within families as suggestive of an environmental rather than genetic cause. Support for this view derives from the lack of correlation between occurrence of the disease and the degree of consanguinity. We conclude that our findings are in accord with the hypothesis which attributes the cause of some cases of Parkinson's disease to early, subclinical environmental damage followed by age-related attrition of neurons within the central nervous system.

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Gene Therapy for Parkinson’s Disease Associated with GBA1 Mutations

Journal of Parkinson s Disease ◽

10.3233/jpd-212739 ◽

2021 ◽

pp. 1-6

Author(s):

Asa Abeliovich ◽

Franz Hefti ◽

Jeffrey Sevigny

Keyword(s):

Parkinson’S Disease ◽

Gene Therapy ◽

Parkinson's Disease ◽

Clinical Trials ◽

Disease Risk ◽

Age Of Onset ◽

Normal Range ◽

Genetic Studies ◽

Lysosomal Dysfunction ◽

The Brain

Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkinson’s disease. Among the lysosomal genes involved, GBA1, has the largest impact on Parkinson’s disease risk. Deficiency in the GBA1 encoded enzyme glucocerebrosidase (GCase) leads to the accumulation of the GCase glycolipid substrates glucosylceramide and glucosylsphingosine and ultimately results in toxicity and inflammation and negatively affect many aspects of Parkinson’s disease, including disease risk, the severity of presentation, age of onset, and likelihood of progression to dementia. These findings support the view that re-establishing normal range levels of GCase expression and enzyme activity may reduce the progression of Parkinson’s disease in patients carrying GBA1 mutations. Studies in mouse models indicate that PR001, a rAAV9 vector-based gene therapy designed to deliver a functional GBA1 gene to the brain, suggest that this therapeutic approach may slow or stop disease progression. PR001 is currently being evaluated in clinical trials with Parkinson’s disease patients carrying GBA1 mutations.

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The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease

Scientific Reports ◽

10.1038/s41598-021-85510-0 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Megan C. Bakeberg ◽

Madison E. Hoes ◽

Anastazja M. Gorecki ◽

Frances Theunissen ◽

Abigail L. Pfaff ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Symptom Onset ◽

Disease Risk ◽

Age Of Onset ◽

Sequencing Analysis ◽

Age Related ◽

Australian Cohort ◽

Progression Markers ◽

Age Related Cognitive Decline

AbstractAbnormal mitochondrial function is a key process in the pathogenesis of Parkinson’s disease (PD). The central pore-forming protein TOM40 of the mitochondria is encoded by the translocase of outer mitochondrial membrane 40 homologue gene (TOMM40). The highly variant ‘523’ poly-T repeat is associated with age-related cognitive decline and age of onset in Alzheimer’s disease, but whether it plays a role in modifying the risk or clinical course of PD it yet to be elucidated. The TOMM40 ‘523’ allele length was determined in 634 people with PD and 422 healthy controls from an Australian cohort and the Parkinson’s Progression Markers Initiative (PPMI) cohort, using polymerase chain reaction or whole genome sequencing analysis. Genotype and allele frequencies of TOMM40 ‘523’ and APOE ε did not differ significantly between the cohorts. Analyses revealed TOMM40 ‘523’ allele groups were not associated with disease risk, while considering APOE ε genotype. Regression analyses revealed the TOMM40 S/S genotype was associated with a significantly later age of symptom onset in the PPMI PD cohort, but not after correction for covariates, or in the Australian cohort. Whilst variation in the TOMM40 ‘523’ polymorphism was not associated with PD risk, the possibility that it may be a modifying factor for age of symptom onset warrants further investigation in other PD populations.

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