scholarly journals DJ-1Variants in Indian Parkinson’s Disease Patients

2012 ◽  
Vol 33 (3) ◽  
pp. 127-135 ◽  
Author(s):  
Tamal Sadhukhan ◽  
Arindam Biswas ◽  
Shyamal K Das ◽  
Kunal Ray ◽  
Jharna Ray

Parkinson’s disease (PD) is a common neurodegenerative movement disorder. Among the candidate genes,DJ-1accounts for about 1% of the cases in different populations. We aim to find the contribution of the gene towards PD among Indians. By screeningDJ-1in 308 PD patients of eastern India and 248 ethnically matched controls, a total of 21 nucleotide variants – including two nonsynonymous changes – were detected. p.Arg98Gln was identified in 6 unrelated patients and 2 controls while p.Val35Ile, a novel change, was found only in 2 unrelated patients. A SNP (rs7517357) was observed to be moderately associated with increased risk of PD (p< 0.05). The deletion allele (g.168–185del) of a known 18 bp del/ins/dup polymorphism was found to be over represented (p< 0.05) among older patients (> 40 years) compared to the controls (> 45 years). Two of the patients, also heterozygotes forPINK1mutation, had more severe disease phenotypes, consistent with the reported interaction betweenPINK1andDJ-1gene products [19]. Our results demonstrate that up to 3.9% (12/308) of PD patients of eastern India harborDJ-1variants that should be explored further for any causal relationship with PD.

2017 ◽  
Vol 13 (02) ◽  
pp. 78
Author(s):  
Matthew J Barrett ◽  

Psychosis is a characteristic neuropsychiatric symptom of Parkinson’s disease (PD) that is common and associated with worse outcomes. The purpose of this article is to review identified risk factors for visual hallucinations in PD, the most common manifestation of psychosis. With the possible exception of dopamine agonists, antiparkinsonian medications are only considered modifiers of psychosis in PD. Dementia in PD has consistently been shown to be associated with psychosis, and executive dysfunction and impairment in visual processing appear to play a role in its pathogenesis. The association of psychosis with disorders of sleep–wake dysregulation and autonomic dysfunction supports the involvement of brainstem dysfunction in PD psychosis. Despite many studies evaluating genetic risk factors for hallucinations, GBA mutations are the only variants consistently reported to be associated with an increased risk of hallucinations in PD. Lastly, psychosis in PD is associated with a more severe disease burden, both related and unrelated to PD pathology. Any explanatory model of psychosis in PD must incorporate pharmacological, neuroanatomic, pathological, and genetic factors before there can be a complete understanding of this common and disabling neuropsychiatric symptom.


US Neurology ◽  
2017 ◽  
Vol 13 (02) ◽  
pp. 78
Author(s):  
Matthew J Barrett ◽  

Psychosis is a characteristic neuropsychiatric symptom of Parkinson’s disease (PD) that is common and associated with worse outcomes. The purpose of this article is to review identified risk factors for visual hallucinations in PD, the most common manifestation of psychosis. With the possible exception of dopamine agonists, antiparkinsonian medications are only considered modifiers of psychosis in PD. Dementia in PD has consistently been shown to be associated with psychosis, and executive dysfunction and impairment in visual processing appear to play a role in its pathogenesis. The association of psychosis with disorders of sleep–wake dysregulation and autonomic dysfunction supports the involvement of brainstem dysfunction in PD psychosis. Despite many studies evaluating genetic risk factors for hallucinations, GBA mutations are the only variants consistently reported to be associated with an increased risk of hallucinations in PD. Lastly, psychosis in PD is associated with a more severe disease burden, both related and unrelated to PD pathology. Any explanatory model of psychosis in PD must incorporate pharmacological, neuroanatomic, pathological, and genetic factors before there can be a complete understanding of this common and disabling neuropsychiatric symptom.


2020 ◽  
Vol 35 (6) ◽  
pp. 871-871
Author(s):  
Ryan J ◽  
Kreiner D ◽  
Gontkovsky S ◽  
Paolo A

Abstract Objective Research has identified common genetic influences on handedness and neurological/mental health phenotypes. It also has been shown there may be increased risk for development of neurological disorders/diseases among individuals naturally left-handed or demonstrating non-right-hand preference. This investigation examined prevalence of right-handed versus non-right-handed individuals with Parkinson’s disease (PD) compared to controls. Method Participants were 264 patients with PD (mean age = 69.83 years) and 256 control volunteers (mean age = 71.42 years). Mean Dementia Rating Scale composites for the groups were 123.68 and 136.00, respectively. Participants self-identified their dominant hand for writing and usage was confirmed during the session. Results Proportions of non-right- and right-handed controls (7.0% and 93.0%) versus individuals with PD (6.8% and 93.2%) did not differ. Changes in proportions of non-right- and right-handedness across age ranges were not significant for controls or patients. There was a trend for a larger proportion of women (55.9%) versus men among controls (44.1%), □ 2 (1) = 3.29, p &lt; .10; whereas, the proportion of men (64.4%) with PD was larger than that of women. (35.6%), □ 2 (1) = 21.31, p &lt; .001. For controls and patients, non-right and right handedness gender proportions were similar. Conclusions This study is the first to assess handedness prevalence rates in PD. Results suggest prevalence of non-right handedness is similar in PD and healthy individuals and does not appear to differ markedly by gender or with advancing age. The occurrence of a trend for a larger proportion of women than men among controls is consistent with census-based statistics.


Cephalalgia ◽  
2016 ◽  
Vol 36 (14) ◽  
pp. 1316-1323 ◽  
Author(s):  
Hsin-I Wang ◽  
Yu-Chun Ho ◽  
Ya-Ping Huang ◽  
Shin-Liang Pan

Background The association between migraine and Parkinson’s disease (PD) remains controversial. The purpose of the present population-based, propensity score-matched follow-up study was to investigate whether migraineurs are at a higher risk of developing PD. Methods A total of 41,019 subjects aged between 40 and 90 years with at least two ambulatory visits with a diagnosis of migraine in 2001 were enrolled in the migraine group. A logistic regression model that included age, sex, pre-existing comorbidities and socioeconomic status as covariates was used to compute the propensity score. The non-migraine group consisted of 41,019 propensity score-matched, randomly sampled subjects without migraine. The PD-free survival rate were estimated using the Kaplan–Meier method. Stratified Cox proportional hazard regression was used to estimate the effect of migraine on the risk of developing PD. Results During follow-up, 148 subjects in the migraine group and 101 in the non-migraine group developed PD. Compared to the non-migraine group, the hazard ratio of PD for the migraine group was 1.64 (95% confidence interval: 1.25–2.14, p = 0.0004). The PD-free survival rate for the migraine group was significantly lower than that for the non-migraine group ( p = 0.0041). Conclusions This study showed an increased risk of developing PD in patients with migraine.


Author(s):  
Dinesh Saini ◽  
Adreesh Mukherjee ◽  
Arijit Roy ◽  
Atanu Biswas

<b><i>Background:</i></b> Executive dysfunction is the common thread between pure cortical dementia like the behavioral variant of frontotemporal dementia (bvFTD) and subcortical dementia like Parkinson’s disease dementia (PDD). Although there are clinical and cognitive features to differentiate cortical and subcortical dementia, the behavioral symptoms differentiating these 2 conditions are still not well known. <b><i>Objective:</i></b> To evaluate the behavioral profile of bvFTD and PDD and compare them to find out which behavioral symptoms can differentiate between the two. <b><i>Methods:</i></b> Twenty consecutive patients with bvFTD (&#x3e;1 year after diagnosis) and 20 PDD patients were recruited according to standard diagnostic criteria. Behavioral symptoms were collected from the reliable caregiver by means of a set of questionnaires and then compared between the 2 groups. <b><i>Results:</i></b> bvFTD patients had more severe disease and more behavioral symptoms than PDD. bvFTD patients were different from PDD patients due to their significantly greater: loss of basic emotion (<i>p</i> &#x3c; 0.001, odds ratio [OR] 44.33), loss of awareness of pain (<i>p</i> &#x3c; 0.001, OR 44.33), disinhibition (<i>p</i> &#x3c; 0.001, OR 35.29), utilization phenomenon (<i>p</i> = 0.008, OR 22.78), loss of taste discrimination (<i>p</i> &#x3c; 0.001, OR 17), neglect of hygiene (<i>p</i> = 0.001, OR 13.22), loss of embarrassment (<i>p</i> = 0.003, OR 10.52), wandering (<i>p</i> = 0.004, OR 9.33), pacing (<i>p</i> = 0.014, OR 9), selfishness (<i>p</i> = 0.014, OR 9), increased smoking (<i>p</i> = 0.014, OR 9), increased alcohol consumption (<i>p</i> = 0.031, OR 7.36), social avoidance (<i>p</i> = 0.012, OR 6.93), mutism (<i>p</i> = 0.041, OR 5.67), and failure to recognize objects (<i>p</i> = 0.027, OR 4.33). The bvFTD patients were also significantly less suspicious (<i>p</i> = 0.001, OR 0.0295), less inclined to have a false belief that people were in their home (<i>p</i> = 0.014, OR 0.11) and had fewer visual illusions/hallucinations (<i>p</i> = 0.004, OR 0.107) than PDD patients. <b><i>Conclusion:</i></b> Behavioral symptoms are helpful to distinguish bvFTD from PDD, and thus also cortical dementia with frontal-lobe dysfunction from subcortical dementia.


2021 ◽  
Vol 27 ◽  
Author(s):  
Niklas Frahm ◽  
Michael Hecker ◽  
Uwe Zettl

: Polypharmacy is an important aspect of medication management and particularly affects elderly and chronically ill people. Patients with dementia, Parkinson’s disease (PD) or multiple sclerosis (MS) are at high risk for multimedication due to their complex symptomatology. Our aim was to provide an overview of different definitions of polypharmacy and to present the current state of research on polypharmacy in patients with dementia, PD or MS. The most common definition of polypharmacy in the literature is the concomitant use of ≥5 medications (quantitative definition approach). Polypharmacy rates of up to >50% have been reported for patients with dementia, PD or MS, although MS patients are on average significantly younger than those with dementia or PD. The main predictor of polypharmacy is the complex symptom profile of these neurological disorders. Potentially inappropriate medication (PIM), drug-drug interactions, poor treatment adherence, severe disease course, cognitive impairment, hospitalisation, poor quality of life, frailty and mortality have been associated with polypharmacy in patients with dementia, PD or MS. For patients with polypharmacy, either the avoidance of PIM (selective deprescribing) or the substitution of PIM with more suitable drugs (appropriate polypharmacy) is recommended to achieve a more effective therapeutic management.


2019 ◽  
Vol 124 ◽  
pp. 276-288 ◽  
Author(s):  
Andreas Weihofen ◽  
YuTing Liu ◽  
Joseph W. Arndt ◽  
Christian Huy ◽  
Chao Quan ◽  
...  

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