scholarly journals Parkinson's Disease: A Genetic Study

1986 ◽  
Vol 13 (3) ◽  
pp. 248-251 ◽  
Author(s):  
Ma. Elisa Alonso ◽  
Enrique Otero ◽  
Rosalinda D'Regules ◽  
Hector Hugo Figueroa
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Study ◽  
Early Onset ◽  
Positive Family History ◽  
Genetic Load ◽  
Control Group ◽  
The Family ◽  
History Of

ABSTRACT:A sample of 122 patients with Parkinson's Disease was studied for the purpose of investigating if the frequency of relatives affected with Parkinson in this group was higher than in a control group and to see if the genetic load was more important in some of the subtypes of Parkinson described by Barbeau and Pourcher (1982).7 In our 122 patients, we found that 1.7% were post-encephalic parkinsonian, 12.3% were symptomatic cases and 86% of the idiopathic variety. There were 16.1% early onset patients in the idiopathic group and among these we found 23.5% with a positive family history of Parkinson in the first-degree relatives. In 6 cases with the tremor onset form of the disease, the family history was positive and 5 patients, 4.7% had familial essential tremor-related Parkinsonism. Our results support Barbeau's hypothesis7.19 that Parkinson is a heterogeneous disease in which some subtypes (such as early onset Parkinson) have an important genetic subceptibility component.

scholarly journals Parkinson’s disease determinants, prediction and gene–environment interactions in the UK Biobank

2020 ◽  
Vol 91 (10) ◽  
pp. 1046-1054 ◽  
Author(s):  
Benjamin Meir Jacobs ◽  
Daniel Belete ◽  
Jonathan Bestwick ◽  
Cornelis Blauwendraat ◽  
Sara Bandres-Ciga ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Risk ◽  
Positive Family History ◽  
Risk Scores ◽  
Uk Biobank ◽  
Gene Environment ◽  
History Of

ObjectiveTo systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk with these factors. To evaluate whether existing risk prediction algorithms are improved by the inclusion of genetic risk scores.MethodsWe identified individuals with an incident diagnosis of PD (n=1276) and controls (n=500 406) in UK Biobank. We determined the association of risk factors with incident PD using adjusted logistic regression models. We constructed polygenic risk scores (PRSs) using external weights and selected the best PRS from a subset of the cohort (30%). The PRS was used in a separate testing set (70%) to examine gene–environment interactions and compare predictive models for PD.ResultsStrong evidence of association (false discovery rate <0.05) was found between PD and a positive family history of PD, a positive family history of dementia, non-smoking, low alcohol consumption, depression, daytime somnolence, epilepsy and earlier menarche. Individuals with the highest 10% of PRSs had increased risk of PD (OR 3.37, 95% CI 2.41 to 4.70) compared with the lowest risk decile. A higher PRS was associated with earlier age at PD diagnosis and inclusion of the PRS in the PREDICT-PD algorithm led to a modest improvement in model performance. We found evidence of an interaction between the PRS and diabetes.InterpretationHere, we used UK Biobank data to reproduce several well-known associations with PD, to demonstrate the validity of a PRS and to demonstrate a novel gene–environment interaction, whereby the effect of diabetes on PD risk appears to depend on background genetic risk for PD.

Genetic Insights into Early-onset Parkinson’s Disease

US Neurology ◽  
2010 ◽  
Vol 06 (01) ◽  
pp. 41
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Leucine Rich Repeat ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson’s disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare, and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1, PTEN-induced kinase-1 (PINK-1), andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

scholarly journals “Familial Parkinson's Disease” – A Case-Control Study of Families

1997 ◽  
Vol 24 (2) ◽  
pp. 127-132 ◽  
Author(s):  
Ryan J. Uitti ◽  
Hitoshi Shinotoh ◽  
Margo Hayward ◽  
Michael Schulzer ◽  
Edwin Mak ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
General Population ◽  
Prevalence Rate ◽  
Positive Family History ◽  
Disease Status ◽  
Negative Family History ◽  
History Of ◽  
Second Degree

ABSTRACT:Background:Parkinson's disease (PD) patients frequently report a family history of PD and this may provide etiological clues to PD. It has also been suggested that a report of a negative family history is reliable. We studied the prevalence of PD in relatives of PD patients to assess the reliability of family history and to evaluate possible explanations of “familial PD”(fPD).Methods:81 of 650 (12.5%) PD probands (all PD patients seen at clinic in 4 years) reported a positive family history of PD. Each fPD proband was matched with non-familial PD (nfPD) proband by gender and year of birth. Screening and follow-up questionnaires were mailed to relatives to obtain information concerning pedigree and presence of neurodegenerative disease. Available family members (regardless of disease status) were examined.Results:On examination, 8 persons, said to be “normal” by probands, relatives and themselves, had definite or possible PD (5 fPD, 3 nfPD). The prevalence rate of PD among first and second degree living relatives of probands varied significantly between fPD and nfPD groups (6269/100 000 versus 1190/100 000; p < 0.001). The weighted prevalence (taking into account the proportions of fPD and nfPD within the clinic) was 1822/100 000, a value more than 5 times higher than reported prevalence rates of PD in the general population (p < 0.001). The prevalence rate was greater in first degree relatives than second degree.Conclusions:“Familial parkinsonism” cannot be explained merely by size of or advanced age within families. Significant numbers of previously unrecognized PD patients may be identified despite a “negative” family history. That is, the patient's report of an absence of familial parkinsonism is frequently inaccurate. The prevalence rate in relatives of PD patients appears to be higher than the general population – regardless of the family history reported by a PD patient. We believe our study suggests that genetic influences or early life environmental exposures are likely to be of etiological importance in PD.

Positive family history of essential tremor influences the motor phenotype of Parkinson's disease

2009 ◽  
Vol 24 (15) ◽  
pp. 2285-2288 ◽  
Author(s):  
Peter Hedera ◽  
John Y. Fang ◽  
Fenna Phibbs ◽  
Michael K. Cooper ◽  
P. David Charles ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Essential Tremor ◽  
Positive Family History ◽  
History Of ◽  
Motor Phenotype

scholarly journals Genetic Insights into Early-onset Parkinson's Disease

2010 ◽  
Vol 5 (1) ◽  
pp. 30
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Risk ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson's disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1,PTEN-induced kinase-1 (PINK-1) andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucinerich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

scholarly journals Family history based approach in risk prediction for Parkinson's disease: Additional contribution of familial associated disorders

Genetika ◽  
2015 ◽  
Vol 47 (1) ◽  
pp. 303-310
Author(s):  
Irena Vrecar ◽  
Ales Maver ◽  
Zvezdan Pirtosek ◽  
Dejan Georgiev ◽  
Zalika Klemenc-Ketis ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Risk Prediction ◽  
Positive Family History ◽  
Caffeine Intake ◽  
Additional Contribution ◽  
Risk Models ◽  
Predictive Capacity ◽  
History Of

The aim of our study was to examine the contribution of family history of Parkinson's disease and its associated disorders in the assessment of predictive capacity of risk models for Parkinson?s disease. In a population of 192 patients with Parkinson?s disease and 1659 healthy individuals we investigated the impact of environmental factors and the effects of family history on Parkinson's disease risk. Pesticides exposure, positive family history of Parkinson?s disease and a positive family history of dementia and melanoma were associated to an increased risk for Parkinson?s disease, with results regarding family history of depression near to statistical significance. Smoking and caffeine intake were associated to a decreased risk for Parkinson?s disease. Three risk prediction models were assessed using the area under the curve approach: first model was based on known environmental risk factors, in the second model we added family history of Parkinson?s disease and in the third model we additionally included family history of dementia, melanoma and depression. We showed that inclusion of data on family history of associated disorders (AUC 0.76) improves predictive capacity of risk model for Parkinson?s disease in comparison with the first (AUC 0.62) and the second model (AUC 0.71). We concluded that family history of associated disorders: dementia, depression and melanoma improves predictive capacity of risk models for Parkinson?s disease.

scholarly journals Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 430
Author(s):  
Steven R. Bentley ◽  
Ilaria Guella ◽  
Holly E. Sherman ◽  
Hannah M. Neuendorf ◽  
Alex M. Sykes ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Rare Variants ◽  
Strong Family History ◽  
Disease Mutations ◽  
Whole Exome ◽  
History Of ◽  
Functional Consequences ◽  
Multiplex Families

Parkinson’s disease (PD) is typically sporadic; however, multi-incident families provide a powerful platform to discover novel genetic forms of disease. Their identification supports deciphering molecular processes leading to disease and may inform of new therapeutic targets. The LRRK2 p.G2019S mutation causes PD in 42.5–68% of carriers by the age of 80 years. We hypothesise similarly intermediately penetrant mutations may present in multi-incident families with a generally strong family history of disease. We have analysed six multiplex families for missense variants using whole exome sequencing to find 32 rare heterozygous mutations shared amongst affected members. Included in these mutations was the KCNJ15 p.R28C variant, identified in five affected members of the same family, two elderly unaffected members of the same family, and two unrelated PD cases. Additionally, the SIPA1L1 p.R236Q variant was identified in three related affected members and an unrelated familial case. While the evidence presented here is not sufficient to assign causality to these rare variants, it does provide novel candidates for hypothesis testing in other modestly sized families with a strong family history. Future analysis will include characterisation of functional consequences and assessment of carriers in other familial cases.

Family history of hand tremor in patients with early Parkinson’s disease

2021 ◽  
Vol 90 ◽  
pp. 161-164
Author(s):  
Seong-Min Choi ◽  
Soo Hyun Cho ◽  
Kyung Wook Kang ◽  
Jae-Myung Kim ◽  
Byeong C. Kim
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Hand Tremor ◽  
History Of ◽  
Early Parkinson’S Disease

scholarly journals Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study

2018 ◽  
Vol 16 (1) ◽  
pp. 17-23
Author(s):  
Manoj Kumar Chaudhary ◽  
Sudha Agrawal ◽  
Chandra Shekhar Agrawal
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Family History ◽  
Early Onset ◽  
Positive Family History ◽  
Prostatic Hyperplasia ◽  
Androgenetic Alopecia ◽  
Pelvic Ultrasonography ◽  
Increased Risk ◽  
History Of ◽  
Common Pathogenesis

Introduction: Androgenetic alopecia (AGA) is associated with increased risk of several systemic diseases and some environmental factors, however, controversies exist. Since AGA and Benign Prostatic Hyperplasia (BPH) share common pathogenesis and AGA manifests some decades before BPH onset, it may serve as an early marker of BPH.Objective: This study was conducted to know AGA and its association with BPH in men ≥20 years of age.Materials and Methods: Clinically diagnosed cases of AGA (n=176) and 117 age matched healthy controls were enrolled. All cases and controls were subjected for abdomino-pelvic ultrasonography, urinary flowmetry, fasting lipid profiles, glycemic index and body mass index. International Prostate Symptom Score (IPSS) was also assessed.Results: Among 176 patients, 120 (68.18%) had Hamilton-Norwood grade III AGA and 56 (31.82%) had grade IV-VII AGA. In both groups, 140 (79.55%) cases and 93 (79.49%) controls were aged <35 years respectively. Family history of AGA was present in 108 (61.36%) cases and 2 (1.71%) controls. This observation was statistically significant with OR= 89.61 (95%CI 23.67-339.29). Three (1.7%) cases and none of the controls had prostate volume >30ml. Seventeen(9.66%) cases and 4 (3.42%) controls were graded as moderately/severely symptomatic IPSS. Statistically significant association was seen between family history and early onset of hair loss (<35 years) in a male sibling or parent.Conclusion: Although positive family history was associated with early onset of AGA, no association between AGA and BPH could be elicited in our study.

scholarly journals Study of risk factors and its correlation with constraint induced movement therapy for atherosclerosis in patients of coronary artery disease and their offspring

2020 ◽  
Vol 7 (3) ◽  
pp. 446
Author(s):  
Venugopal Margekar ◽  
Shweta Thakur ◽  
O. P. Jatav ◽  
Pankaj Yadav
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Positive Family History ◽  
Surrogate Marker ◽  
Control Group ◽  
Medical College ◽  
Constraint Induced Movement Therapy ◽  
Group Data ◽  
History Of ◽  
Artery Disease

Background: A significant percent of cardiovascular event occurs without well-known modifiable risk. A new tool for early identification for atherosclerosis is required for early intervention. Aims and objectives of the study was to study the risk factors for CAD and its correlation with CIMT.Methods: One hundred and forty subjects were studied for the risk factors of CAD in Department of Medicine of G.R. Medical College, Gwalior from 2012 to 2013. Out of 140 subjects, 100 were patients having CAD and 40 age matched subjects were included as control group. Data was also recorded from their offspring. High resolution B mode ultrasonography was performed to assess CIMT of carotid arteries. The maximum CIMT of any one side of carotid artery was taken for study.Results: CAD was more prevalent among males (78%). Majority of the offspring of cases had age between 28-42 years and majority were male (73%). Most common risk factors for CAD was dyslipidemia (48%), hypertension (24%), diabetes (12%) and smoking (21%), whereas in offspring’s of CAD patients, dyslipidemia was seen in 28%, hypertension in 3%, diabetes and tobacco smoking in 12% and 24% respectively. The CIMT of CAD patients was significantly increased with increasing the number of risk factors and the same pattern was also seen in controls.  The CIMT of asymptomatic offspring’s having positive family history was significantly more than the asymptomatic offspring without positive family history of CAD.Conclusions: CIMT measurements can be used as a surrogate marker of atherosclerosis as it has showed a direct link with number of risk factors of CAD. 

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