scholarly journals Heterotopic Ossification following Total Elbow Arthroplasty in a Patient with Parkinson’s Disease: Case Report and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Ajay Shah ◽  
Michael Uy ◽  
James R. Yan ◽  
Moin Khan ◽  
Bashar Alolabi
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Literature Review ◽  
Heterotopic Ossification ◽  
High Energy ◽  
Total Elbow Arthroplasty ◽  
Heterotopic Bone ◽  
Elbow Arthroplasty ◽  
Elbow Motion

Introduction. Heterotopic ossification (HO) usually develops following surgery or trauma. Risk factors for HO following elbow fractures include delay to surgery (>7 days), floating fractures, and elbow subluxation. Systemic risk factors for HO include male sex; concurrent cranial, neurological, or abdominal injury; high-energy trauma; previous development of HO; and contralateral fracture. To date, no studies have reported on Parkinson’s disease (PD) as a risk factor for the development of HO. Case Presentation. A 68-year-old female with PD (treated with levodopa-carbidopa) sustained a right closed (OTA type A3) distal humerus fracture and was treated with a total elbow arthroplasty. Postoperatively, development of significant near-ankylosing HO was observed and contributed to significant restriction of elbow motion with activities of daily living. After HO maturation, the osseous growth was excised, and the area irradiated. The patient regained excellent elbow motion with no recurrence of HO. Discussion. A literature review revealed six cases of HO development in PD patients following arthroplasty. Patients with PD have higher serum concentrations of interleukins (IL) and tumor necrosis factor- (TNF-) α. These factors stimulate BMP-2 production which may promote osteogenesis. Levodopa-carbidopa may also influence HO through stimulation of growth hormone and IGF-1. Conclusion. Parkinsonism may promote heterotopic bone growth through the release of osteoinductive factors. HO development may also be mediated by levodopa-carbidopa therapy. Future research should highlight the link between HO and PD and identify if prophylaxis is warranted in PD patients undergoing arthroplasty.

scholarly journals Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Muhammad Aslam ◽  
Nirosiya Kandasamy ◽  
Anwar Ullah ◽  
Nagarajan Paramasivam ◽  
Mehmet Ali Öztürk ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Variants ◽  
Rare Variants ◽  
Alpha Synuclein ◽  
Younger Age ◽  
Targeted Treatments ◽  
Genes Encoding ◽  
Rare Genetic Variants

AbstractRare variants in the beta-glucocerebrosidase gene (GBA1) are common genetic risk factors for alpha synucleinopathy, which often manifests clinically as GBA-associated Parkinson’s disease (GBA-PD). Clinically, GBA-PD closely mimics idiopathic PD, but it may present at a younger age and often aggregates in families. Most carriers of GBA variants are, however, asymptomatic. Moreover, symptomatic PD patients without GBA variant have been reported in families with seemingly GBA-PD. These observations obscure the link between GBA variants and PD pathogenesis and point towards a role for unidentified additional genetic and/or environmental risk factors or second hits in GBA-PD. In this study, we explored whether rare genetic variants may be additional risk factors for PD in two families segregating the PD-associated GBA1 variants c.115+1G>A (ClinVar ID: 93445) and p.L444P (ClinVar ID: 4288). Our analysis identified rare genetic variants of the HSP70 co-chaperone DnaJ homolog subfamily B member 6 (DNAJB6) and lysosomal protein prosaposin (PSAP) as additional factors possibly influencing PD risk in the two families. In comparison to the wild-type proteins, variant DNAJB6 and PSAP proteins show altered functions in the context of cellular alpha-synuclein homeostasis when expressed in reporter cells. Furthermore, the segregation pattern of the rare variants in the genes encoding DNAJB6 and PSAP indicated a possible association with PD in the respective families. The occurrence of second hits or additional PD cosegregating rare variants has important implications for genetic counseling in PD families with GBA1 variant carriers and for the selection of PD patients for GBA targeted treatments.

scholarly journals PINK1: A Bridge between Mitochondria and Parkinson’s Disease

Life ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 371
Author(s):  
Filipa Barroso Gonçalves ◽  
Vanessa Alexandra Morais
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Quality Control ◽  
High Energy ◽  
Common Denominator ◽  
Mitochondrial Quality Control ◽  
Mitochondrial Homeostasis ◽  
Cellular Environment ◽  
Familial Form ◽  
Mitochondrial Functions

Mitochondria are known as highly dynamic organelles essential for energy production. Intriguingly, in the recent years, mitochondria have revealed the ability to maintain cell homeostasis and ultimately regulate cell fate. This regulation is achieved by evoking mitochondrial quality control pathways that are capable of sensing the overall status of the cellular environment. In a first instance, actions to maintain a robust pool of mitochondria take place; however, if unsuccessful, measures that lead to overall cell death occur. One of the central key players of these mitochondrial quality control pathways is PINK1 (PTEN-induce putative kinase), a mitochondrial targeted kinase. PINK1 is known to interact with several substrates to regulate mitochondrial functions, and not only is responsible for triggering mitochondrial clearance via mitophagy, but also participates in maintenance of mitochondrial functions and homeostasis, under healthy conditions. Moreover, PINK1 has been associated with the familial form of Parkinson’s disease (PD). Growing evidence has strongly linked mitochondrial homeostasis to the central nervous system (CNS), a system that is replenished with high energy demanding long-lasting neuronal cells. Moreover, sporadic cases of PD have also revealed mitochondrial impairments. Thus, one could speculate that mitochondrial homeostasis is the common denominator in these two forms of the disease, and PINK1 may play a central role in maintaining mitochondrial homeostasis. In this review, we will discuss the role of PINK1 in the mitochondrial physiology and scrutinize its role in the cascade of PD pathology.

Analyses of Visuospatial and Visuoperceptual Errors as Predictors of Dementia in Parkinson’s Disease Patients with Subjective Cognitive Decline and Mild Cognitive Impairment

2020 ◽  
pp. 1-11
Author(s):  
Iván Galtier ◽  
Antonieta Nieto ◽  
María Mata ◽  
Jesús N. Lorenzo ◽  
José Barroso
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Cognitive Decline ◽  
Poor Performance ◽  
Subjective Cognitive Decline ◽  
Independent Risk Factors

ABSTRACT Objective: Subjective cognitive decline (SCD) and mild cognitive impairment (MCI) in Parkinson’s disease (PD) are considered as the risk factors for dementia (PDD). Posterior cortically based functions, such as visuospatial and visuoperceptual (VS-VP) processing, have been described as predictors of PDD. However, no investigations have focused on the qualitative analysis of the Judgment of Line Orientation Test (JLOT) and the Facial Recognition Test (FRT) in PD-SCD and PD-MCI. The aim of this work was to study the VS-VP errors in JLOT and FRT. Moreover, these variables are considered as predictors of PDD. Method: Forty-two PD patients and 19 controls were evaluated with a neuropsychological protocol. Patients were classified as PD-SCD and PD-MCI. Analyses of errors were conducted following the procedure described by Ska, Poissant, and Joanette (1990). Follow-up assessment was conducted to a mean of 7.5 years after the baseline. Results: PD-MCI patients showed a poor performance in JLOT and FRT total score and made a greater proportion of severe intraquadrant (QO2) and interquadrant errors (IQO). PD-SCD showed a poor performance in FRT and made mild errors in JLOT. PD-MCI and QO2/IQO errors were independent risk factors for PDD during the follow-up. Moreover, the combination of both PD-MCI diagnosis and QO2/IQO errors was associated with a greater risk. Conclusions: PD-MCI patients presented a greater alteration in VS-VP processing observable by the presence of severe misjudgments. PD-SCD patients also showed mild difficulties in VS-SP functions. Finally, QO2/IQO errors in PD-MCI are a useful predictor of PDD, more than PD-MCI diagnosis alone.

Occupational exposures to metals as risk factors for Parkinson's disease

Neurology ◽  
1997 ◽  
Vol 48 (3) ◽  
pp. 650-658 ◽  
Author(s):  
J. M. Gorell ◽  
C. C. Johnson ◽  
B. A. Rybicki ◽  
E. L. Peterson ◽  
G. X. Kortsha ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Occupational Exposures

scholarly journals Stigma Experienced by Parkinson’s Disease Patients: A Descriptive Review of Qualitative Studies

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Marina Maffoni ◽  
Anna Giardini ◽  
Antonia Pierobon ◽  
Davide Ferrazzoli ◽  
Giuseppe Frazzitta
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Literature Review ◽  
Subjective Experience ◽  
Negative Impact ◽  
Social Stigma ◽  
Subjective Symptom ◽  
Point Of View ◽  
Pubmed Database ◽  
Related Quality

Parkinson’s disease (PD) is a neurodegenerative disease characterized by motor and nonmotor symptoms. Both of them imply a negative impact on Health-Related Quality of Life. A significant one is the stigma experienced by the parkinsonian patients and their caregivers. Moreover, stigma may affect everyday life and patient’s subjective and relational perception and it may lead to frustration and isolation. Aim of the present work is to qualitatively describe the stigma of PD patients stemming from literature review, in order to catch the subjective experience and the meaning of the stigma construct. Literature review was performed on PubMed database and Google Scholar (keywords: Parkinson Disease, qualitative, stigma, social problem, isolation, discrimination) and was restricted to qualitative data: 14 articles were identified to be suitable to the aim of the present overview. Results are divided into four core constructs: stigma arising from symptoms, stigma linked to relational and communication problems, social stigma arising from sharing perceptions, and caregiver’s stigma. The principal relations to these constructs are deeply analyzed and described subjectively through patients’ and caregiver’s point of view. The qualitative research may allow a better understanding of a subjective symptom such as stigma in parkinsonian patients from an intercultural and a social point of view.

scholarly journals Risk Factors of Fatigue in Idiopathic Parkinson’s Disease in a Polish Population

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Monika Gołąb-Janowska ◽  
Dariusz Kotlęga ◽  
Krzysztof Safranow ◽  
Agnieszka Meller ◽  
Anna Budzianowska ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Everyday Activity ◽  
Activity Intensity ◽  
Fatigue Syndrome ◽  
Moderate Depression ◽  
Fatigue Severity ◽  
Independent Risk Factors ◽  
Severity Of The Disease

Introduction.Fatigue syndrome is one of the nonmotor symptoms in Parkinson’s disease (PD). The aim of the study was assessment of prevalence of fatigue syndrome in PD and answering the question what are the independent risk factors connected with intensity of fatigue in PD.Methods. 114 patients with idiopathic PD (mean age 62.2 + 10.8 years) were enrolled. The fatigue was assessed according to the Fatigue Severity Scale (FSS). We analyzed associations between fatigue and sex, age, education, duration and severity of the disease, everyday activity, intensity of the main symptoms, treatment, presence of dyskinesias and fluctuations, depression and excessive sleep during the day, and presence of pain and nycturia.Results. The fatigue syndrome was detected in 57.9% of patients. The score in the FSS was 1 to 7 points, 4.3 average. Greater fatigue intensity correlated with higher total daily levodopa equivalent dose. Patients with moderate depression had significantly greater fatigue.Conclusions. Fatigue syndrome affects 57.9% of patients with PD. Use of higher LED and presence of moderate depression are independent risk factors of greater intensity of fatigue.

scholarly journals Differences in MTHFR and LRRK2 variant’s association with sporadic Parkinson’s disease in Mexican Mestizos correlated to Native American ancestry

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Elizabeth Romero-Gutiérrez ◽  
Paola Vázquez-Cárdenas ◽  
Hortensia Moreno-Macías ◽  
José Salas-Pacheco ◽  
Teresa Tusié-Luna ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Native American ◽  
Neurodegenerative Disorder ◽  
European Ancestry ◽  
Native American Ancestry ◽  
Risk Effect ◽  
Mexican Mestizos ◽  
Shared Risk

AbstractParkinson’s disease (PD), a common neurodegenerative disorder, has a complex etiology where environmental and genetic factors intervene. While a number of genes and variants have been identified in recent decades as causative or protective agents of this condition, a limited number of studies have been conducted in mixed populations, such as Mexican Mestizos. The historical convergence of two founding groups and three ethnicities, and the increasing north-to-south gradient of Native American ancestry in Mexico resulted in a subpopulation structure with considerable genetic diversity. In this work, we investigate the influence of 21 known susceptibility variants for PD. Our case–control study, with a cohort of 311 Mexican Mestizo subjects, found a significant risk association for the variant rs1491942 in LRRK2. However, when stratification by ancestry was performed, a risk effect for MTHFR rs1801133 was observed only in the group with the highest percentage of European ancestry, and the PD risk effect for LRRK2 rs1491942 was significant in subjects with a higher ratio of Native American ancestry. Meta-analyses of these SNP revealed the effect of LRRK2 rs1491942 to be even more significant than previously described in populations of European descent. Although corroboration is necessary, our findings suggest that polymorphism rs1491942 may be useful as a risk marker of PD in Mexican Mestizos with greater Native American ancestry. The absence of associations with the remaining known risk factors is, in itself, a relevant finding and invites further research into the shared risk factors’ role in the pathophysiological mechanisms of this neurodegenerative disorder.

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