scholarly journals Polymorphisms in the genes of citohrom oxidase P450 2D6 (CYP2D6), paraoxonase 1 (PON1) and apolipoproteine E (APOE) as risk factors for Parkinson's disease

2007 ◽  
Vol 64 (1) ◽  
pp. 25-30 ◽  
Author(s):  
Gordana Djuric ◽  
Marina Svetel ◽  
Nikolaevic Illarioskin ◽  
Natasa Dragadjevic ◽  
Jelena Gavrilovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Age At Onset ◽  
Paraoxonase 1 ◽  
Control Group ◽  
Study Results ◽  
P450 2D6 ◽  
Genotype Ii

Background/Aim. The presence of Parkinson's disease (PD) among the members of a family is a clear indication of the significance of genetics in its development. In spite of that, the majority of patients with PD shows a sporadic form of the disease induced as a result of interaction of both environmental and genetic factors. The aim of this study was to examine the effects of polymorphisms in the genes of cytohrome P450 2D6(CYP2D6), paraoxonase 1 (PON 1) and apolipoprotein E (APOE), as risk factors for PD. Methods. We examined 106 patients with PD (65 men and 41 women) and 75 ethnically matched control subjects. The mean age at onset of PD in the patients was 46.9?9.4 years (ranging from 30 to 70 years). Genotyping was performed using standard PCR amplification and restriction endonuclease digestion protocols described for known polymorphism in the candidate genes under study. Results. The genotype A/A polymorphisms 2D6* gene of CYP2D6 and genotype M/M polymorphisms L54M gene of PON1 were significantly more frequent in the patients with PD than in the control group. The patients with genotypes A/A and M/M had 3.4 and 3.2 higher risk of PD, respectively than the control group (p = 0.01). The relation between genotypes A/A gene of CYP2D6 and M/M gene of PON1 was modified by the age at onset. The genotypes were associated with early onset of PD (p = 0.001, p = 0.004). The carriers of the A and M alleles in homozygote had 2.4 and 4.2 years respectively earlier onset of PD than carriers of other genotypes with these polymorphisms. The frequency allele ?4 gene of APOE was higher in the PD patients with early onset (20%) than in PD with later onset (7.4%), while the genotype ?3/?3 was associated with PD late onset (p = 0.024). Combined genotype I (carriers of the two risk allels in homozygote and one alleles risk in heterozygote) and combined genotype II (carriers of the three alleles risk in homozygote) caused early PD. Combined genotype II was detected in 12.7% of the patients in the group of early onset, and in 2.4% of the patients with the onset after 45 years. Conclusion. The results of our study suggest that the genotypes A/A and M/M genes of CYP2D6 and PON1, and allele ?4 gene are an important risk for the development of PD, causing its early onset. The cumulative effects of the risk genes cause an early onset of PD.

Paraoxonase 1 polymorphisms L55M and Q192R were not risk factors for Parkinson's disease: A HuGE review and meta-analysis

Gene ◽  
2012 ◽  
Vol 501 (2) ◽  
pp. 188-192 ◽  
Author(s):  
Ying-Li Liu ◽  
Jie Yang ◽  
Jie Zheng ◽  
Dian-Wu Liu ◽  
Tian Liu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Meta Analysis ◽  
Paraoxonase 1

PINK1 polymorphism IVS1−7 A→G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease

2010 ◽  
Vol 469 (1) ◽  
pp. 155-158 ◽  
Author(s):  
Clecio Godeiro ◽  
Patricia M. de Carvalho Aguiar ◽  
Andre C. Felício ◽  
Orlando G.P. Barsottini ◽  
Sonia M.A. Silva ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Environmental Risk ◽  
Early Onset ◽  
Disease Onset ◽  
Environmental Risk Factors ◽  
Early Onset Parkinson’S Disease

The Evolution of Dementia in Idiopathic Parkinson's Disease: Neuropsychological and Clinical Evidence in Support of Subtypes

1992 ◽  
Vol 4 (4) ◽  
pp. 147-160 ◽  
Author(s):  
Wayne G. J. Reid
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Critical Determinant ◽  
Drug Study ◽  
Baseline Phase ◽  
Onset Group ◽  
Early Onset Group

One hundred and seven newly diagnosed, untreated patients with Parkinson's disease (PD) were divided into two groups according to their age at reported onset of symptoms. Of these, 79 patients were under age 70 (early-onset) and 28 patients were age 70 and over (late-onset). The group of 50 control subjects comprised spouses, friends of the PD patients, and community volunteers. The patients were participants in a multicenter drug study of Parkinson's disease. Each had received a detailed neurological and neuropsychological assessment in the baseline placebo phases of the study. Thirty-4 patients with early-onset and 12 patients with late-onset were reassessed 3 years after treatment with low-dose levodopa, with bromocriptine, or with a combination of the two drugs. The results of the baseline phase of the study revealed that 8% of the early-onset group and 32% of the late-onset group were classified as demented. The 3-year follow-up revealed that the prevalence of dementia had increased to 17% in the early-onset group and to 83% in the late-onset group. This study confirms that at least two distinct subtypes of Parkinson's disease exist. The subtypes differ both clinically and neuropsychologically. The age at onset of symptoms is a critical determinant of the rate and type of cognitive decline in Parkinson's disease.

scholarly journals Parkinson’s Disease and Symptomatic Osteoarthritis Are Independent Risk Factors of Falls in the Elderly

2019 ◽  
Vol 12 ◽  
pp. 117954411988493 ◽  
Author(s):  
Anneli Teder-Braschinsky ◽  
Aare Märtson ◽  
Marika Rosenthal ◽  
Pille Taba
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Knee Osteoarthritis ◽  
The Elderly ◽  
Control Group ◽  
Increased Risk ◽  
Symptomatic Knee ◽  
Risk Of Falls ◽  
Risk Factors For Falls

Objectives: Deteriorating functionality and loss of mobility, resulting from Parkinson’s disease, may be worsened by osteoarthritis, which is the most common form of joint disease causing pain and functional impairment. We assessed the association between symptomatic hip or knee osteoarthritis, falls, and the ability to walk among patients with Parkinson’s disease compared to a control group. Methods: A total of 136 patients with Parkinson’s disease in Southern Estonia and 142 controls with an average age of 76.8 and 76.3 years, respectively, were enrolled in a retrospective case-control study. Information on falls and related fractures during the previous year was collected from the patients with Parkinson’s disease and controls. Covariates included gender, age, mobility, duration of Parkinson’s disease, and fractures. Results: Patients with Parkinson’s disease were at an increased risk of falls compared to the control group, and for the higher risk of fractures. Symptomatic knee or hip osteoarthritis was a significant independent predictor of falls in both patients with Parkinson’s disease and controls. The higher risk for fractures during the previous year was demonstrated in symptomatic osteoarthritis. Risk factors for falls included also female gender, use of sleep pills, and the inability to walk 500 m. Conclusions: Symptomatic hip and knee osteoarthritis are risk factors for falls and related fractures among the elderly population with and without Parkinson’s disease. The inability to walk 500 m could be used as a simple predictive factor for the increased risk of falls among elderly populations.

scholarly journals EEG features in patients with Parkinson's disease during directional perception of olfactory stimuli

2021 ◽  
Vol 15 (4) ◽  
pp. 27-35
Author(s):  
Sergey P. Kozhevnikov ◽  
Irina L. Ivanova ◽  
Natalia V. Komissarova ◽  
Anastasia V. Shubina ◽  
Matvey A. Vlasov
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Right Hemisphere ◽  
Olfactory Dysfunction ◽  
Olfactory Stimulation ◽  
Control Group ◽  
Olfactory Perception ◽  
Study Results ◽  
Olfactory Stimuli ◽  
The Right

Introduction. Olfactory dysfunction is considered to be an early and relatively important marker of Parkinson's disease (PD). Olfactory studies using objective neurophysiological methods may become one of the diagnostic tests to identify individuals with a high risk of developing PD. The aim of the study was to assess the spectral and topographic characteristics of bioelectrical brain activity in patients with PD during directional perception of olfactory stimuli. Materials and methods. This study included 30 patients with PD (mean age was 66.5 6.5 years). The control group consisted of 20 people without PD (mean age was 65.3 8.5 years). Lavender oil, clove oil, camphor oil and -mercaptoethanol solution (an aversive stimulus) were used for olfactory stimulation, while distilled water was used as a control test. The test subject sat with their eyes closed and inhaled the presented smell for 30 seconds, while an EEG recording was made during this time. Study results. Olfactory stimulation in patients with PD showed increased synchronicity of the 3 rhythm in the right hemisphere, as well as the rhythm in the parieto-occipital regions of both hemispheres. These changes indicate significant activation of internal (endogenous) attention, increased overall, non-specific readiness potential, as well as the involvement of the limbic-reticular complex in olfactory perception. Olfactory perception in the control group was accompanied by reduction in the 1 rhythm amplitude in the parieto-occipital regions bilaterally, which may indicate moderate activation of external (exogenous) attention and the posterior attention system responsible for simple perception processes. Conclusion. Increased 3 rhythm amplitude in the right hemisphere and increased rhythm amplitude, observed during directional olfactory perception, may indicate olfactory dysfunction and should be viewed as an additional indicator when establishing a diagnosis of Parkinsons disease.

scholarly journals An Enriched Environment Ameliorates Oxidative Stress and Olfactory Dysfunction in Parkinson’s Disease with α-Synucleinopathy

2018 ◽  
Vol 27 (5) ◽  
pp. 831-839 ◽  
Author(s):  
Soohyun Wi ◽  
Jang Woo Lee ◽  
MinGi Kim ◽  
Chang-Hwan Park ◽  
Sung-Rae Cho
Keyword(s):  
Oxidative Stress ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Underlying Mechanism ◽  
Olfactory Dysfunction ◽  
Olfactory Function ◽  
Enriched Environment ◽  
Detoxification Enzymes ◽  
Paraoxonase 1 ◽  
Control Group

Parkinson’s disease (PD) features nonmotor symptoms such as olfactory dysfunction referred to as hyposmia, an initial sign of disease progression. Metabolic dysfunction can contribute to neurodegenerative diseases, and various xenobiotics and endogenous compounds are also involved in the pathogenesis of PD. Although aerobic exercise was found to induce preservation or improvement in olfactory function in PD patients in a recent study, the exact underlying mechanism for this effect is not clear. We aimed to investigate the influence of an enriched environment (EE) on olfactory dysfunction especially via metabolic pathways related to detoxification enzymes. Eight-month-old transgenic (Tg) PD mice that overexpress human A53T α-synuclein (α-syn) were randomly allocated to an EE or standard conditions for 2 mo. The buried food test showed that EE group had significantly improved olfactory function compared to the control group. Reverse transcription polymerase chain reaction (PCR) and real-time quantitative PCR showed that expression of the detoxification enzymes–– cytochrome P450 family 1 subfamily A member 2, paraoxonase 1, alcohol dehydrogenase 1, UDP glucuronosyltransferase family 2 member A1 complex locus, aldehyde oxidase homolog 2, and aldehyde glutathione peroxidase 6––was significantly increased in the olfactory bulb (OB) of the PD control group, but these enzymes were normalized in the EE group. Immunohistochemical staining of the OB showed that oxidative stress and nitrated α-syn were significantly increased in the control group but decreased in the EE group. In conclusion, we suggest that exposure to an EE decreases both oxidative stress and nitrated α-syn, resulting in normalized detoxification enzymes and amelioration of olfactory dysfunction.

scholarly journals Exposure to Pesticides and Welding Hastens the Age-at-Onset of Parkinson’s Disease

2019 ◽  
Vol 46 (6) ◽  
pp. 711-716 ◽  
Author(s):  
Pierre-Luc Gamache ◽  
Ikhlass Haj Salem ◽  
Noémie Roux-Dubois ◽  
Jacques Le Bouthillier ◽  
Ziv Gan-Or ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Toxic Metals ◽  
Age At Onset ◽  
Small Sample ◽  
Control Group ◽  
Ascertainment Scheme ◽  
Professional Exposure ◽  
Incident Cohort ◽  
Detailed Questionnaire

ABSTRACT:Background:The age-at-onset (AAO) of Parkinson’s disease (PD) is thought to be influenced by environmental factors and polygenic predispositions. Professional exposures to pesticides and toxic metals were shown to be associated with an earlier onset in small sample studies.Aim of Study:The aim of this study was to confirm the association between professional exposures to pesticides and toxic metals and the AAO of PD, on a larger cohort of patients, defined with a clinic-based ascertainment scheme.Methods:We used an incident cohort of 290 patients recruited through three designated movement disorder clinics in the province of Quebec, Canada. Patients completed a detailed questionnaire regarding professional exposures to pesticides and toxic metals. We compared the AAO in patients without prior professional exposure (N = 170) and those with exposure to pesticides (N = 53) or toxic metals through welding (N = 30). We further subdivided patients exposed to pesticides according to the frequency and proximity of their contacts.Results:Patients with prior exposure to pesticides (AAO = 54.74 years) or toxic metals (54.27 years) had a significantly earlier AAO compared to the control group (59.26 years) (p = 0.003). In those exposed to pesticides, closer (p = 0.03) and more frequent (p = 0.02) contacts were negatively correlated with AAO.Conclusion:Exposure to pesticides and toxic metals were both associated with an earlier onset of PD, an effect that was greater with higher levels of exposure, both in terms of frequency and proximity.

scholarly journals Distinct patterns of speech disorder in early-onset and late-onset de-novo Parkinson’s disease

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Jan Rusz ◽  
Tereza Tykalová ◽  
Michal Novotný ◽  
Evžen Růžička ◽  
Petr Dušek
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Standard Deviation ◽  
Early Onset ◽  
De Novo ◽  
Late Onset ◽  
Age At Onset ◽  
Distinct Pattern ◽  
Speech Disorder ◽  
Motor Symptom

AbstractSubstantial variability and severity of dysarthric patterns across Parkinson’s disease (PD) patients may reflect distinct phenotypic differences. We aimed to compare patterns of speech disorder in early-onset PD (EOPD) and late-onset PD (LOPD) in drug-naive patients at early stages of disease. Speech samples were acquired from a total of 96 participants, including two subgroups of 24 de-novo PD patients and two subgroups of 24 age- and sex-matched young and old healthy controls. The EOPD group included patients with age at onset below 51 (mean 42.6, standard deviation 6.1) years and LOPD group patients with age at onset above 69 (mean 73.9, standard deviation 3.0) years. Quantitative acoustic vocal assessment of 10 unique speech dimensions related to respiration, phonation, articulation, prosody, and speech timing was performed. Despite similar perceptual dysarthria severity in both PD subgroups, EOPD showed weaker inspirations (p = 0.03), while LOPD was characterized by decreased voice quality (p = 0.02) and imprecise consonant articulation (p = 0.03). In addition, age-independent occurrence of monopitch (p < 0.001), monoloudness (p = 0.008), and articulatory decay (p = 0.04) was observed in both PD subgroups. The worsening of consonant articulation was correlated with the severity of axial gait symptoms (r = 0.38, p = 0.008). Speech abnormalities in EOPD and LOPD share common features but also show phenotype-specific characteristics, likely reflecting the influence of aging on the process of neurodegeneration. The distinct pattern of imprecise consonant articulation can be interpreted as an axial motor symptom of PD.

scholarly journals Dementia and Parkinson’s Disease: Risk Factors for 30-Day Mortality in Nursing Home Residents with COVID-19

2021 ◽  
pp. 1-9
Author(s):  
Jeanine J.S. Rutten ◽  
Janine van Kooten ◽  
Anouk M. van Loon ◽  
Laura W. van Buul ◽  
Karlijn J. Joling ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Disease Risk ◽  
Nursing Home Residents ◽  
Mortality Rates ◽  
Control Group ◽  
Additional Risk ◽  
Cox Proportional Hazard ◽  
Cox Proportional Hazard Models

Background: The COVID-19 pandemic has led to high mortality rates in nursing homes (NHs) in Europe. For adequate risk management and good prognostications, it is essential to identify mortality risk factors. Objective: This study aimed to determine whether previously identified risk factors for 30-day mortality in Dutch NH residents with COVID-19 are unique to COVID-19. Methods: In this cohort study, we included 1,294 NH residents with COVID-19 (cases) and 17,999 NH residents without COVID-19 (controls, from the pre-COVID-19 period). We used descriptive statistics and Cox proportional hazard models to compare mortality rates in residents with and without COVID-19, categorized by risk factors. Results: Cases had a more than 18 times higher hazard of death within 30 days compared to controls (HR 18, 95%CI: 16–20). For residents with COVID-19, being male, having dementia, and having Parkinson’s disease (PD) were all associated with a higher 30-day mortality (HR 1.8 versus 1.3 versus 1.7). Being male was also associated with a higher mortality (HR 1.7) in the control group, whereas having dementia and PD were not. COVID-19 symptomatology was very similar for residents with and without dementia or PD, except for delirium and malaise which was more frequent in residents with dementia. Conclusion: Dementia and PD were significant additional risk factors for mortality in Dutch NH residents with COVID-19, whereas male gender was not unique to residents with COVID-19. The frailty of PD and dementia in NH residents with COVID-19 are relevant to consider in prognostication, communication, and care planning with residents and their families.

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