scholarly journals Parkinson’s Disease and Metal Storage Disorders: A Systematic Review

2018 ◽  
Vol 8 (11) ◽  
pp. 194 ◽  
Author(s):  
Edward Botsford ◽  
Jayan George ◽  
Ellen Buckley
Keyword(s):  
Systematic Review ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Wilson’S Disease ◽  
Case Reports ◽  
Hereditary Hemochromatosis ◽  
Wilson's Disease ◽  
Neurological Dysfunction ◽  
Cross Sectional ◽  
Storage Disorders

Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients with MSDs in order to uncover novel pathways implemented in Parkinson’s disease. Human studies describing patients of any age with an MSD diagnosis were analysed. Foreign language publications as well as animal and cellular studies were excluded. Searches were conducted through PubMed and Ovid between April and September 2018. A total of 53 publications were identified including 43 case reports, nine cross-sectional studies, and one cohort study. The publication year ranged from 1981 to 2018. The most frequently identified MSDs were Pantothenate kinase-associated neurodegeneration (PKAN) with 11 papers describing Parkinsonism, Hereditary hemochromatosis (HH) (7 papers), and Wilson’s disease (6 papers). The mean ages of onset of Parkinsonism for these MSDs were 33, 53, and 48 years old, respectively. The Parkinsonian features described in the PKAN and HH patients were invariably atypical while the majority (4/6) of the Wilson’s disease papers had a typical picture. This paper has highlighted a relationship between MSDs and Parkinsonism. However, due to the low-level evidence identified, further research is required to better define what the relationship is.

scholarly journals Othello syndrome in Parkinson’s disease: a systematic review and report of a case series

2021 ◽  
Author(s):  
Giovanna De Michele ◽  
Gianluigi Rosario Palmieri ◽  
Chiara Pane ◽  
Carmen Diletta Paola Dello Iacovo ◽  
Sandra Perillo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Visual Hallucinations ◽  
Levodopa Dose ◽  
Cross Sectional ◽  
Pubmed Database

Abstract Introduction Psychosis in Parkinson’s disease (PD) is common and consists of hallucinations, illusions, and delusions. Among the latter, delusional jealousy, also named Othello syndrome (OS), might impair the quality of life of both patients and their partners. We aimed to perform a systematic review and report a series of PD patients presenting with OS. Methods A systematic review research was performed in PubMed database, excluding non-English articles, single case reports, reviews and neuropathology articles, comments, and articles concerning OS associated with deep brain stimulation (DBS) and levodopa-carbidopa intestinal gel infusion. We also described eleven PD patients (9 M and 2 F) with OS, identified in a cohort of consecutive 153 patients, comparing them with eleven matched no OS (nOS) PD subjects taken from the same cohort. Results We included eight articles (four case series and four cross-sectional studies). OS resulted more common among males than females. We did not find higher levodopa dose and levodopa equivalent dose for dopamine agonists and for all anti-parkinsonian drugs in our OS group. In our case series, OS patients showed visual hallucinations (p=0.001) and a trend to have depression (p=0.080) more frequently than nOS ones. Conclusions OS is not a rare disorder in PD, probably due not only to abnormal dopaminergic stimulation but also to serotonergic dysfunction in biologically predisposed subjects. Visual hallucinations and other concomitant psychiatric diseases, in particular depression, might represent a risk factor for the OS development.

scholarly journals Parkinson’s Disease-Cognitive Rating Scale for Evaluating Cognitive Impairment in Parkinson’s Disease: A Systematic Review

2020 ◽  
Vol 10 (9) ◽  
pp. 588
Author(s):  
Elena Cecilia Rosca ◽  
Mihaela Simu
Keyword(s):  
Systematic Review ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cognitive Impairment ◽  
Psychometric Properties ◽  
Rating Scale ◽  
Cross Sectional Study ◽  
Index Test ◽  
Cross Sectional ◽  
Level Ii

The aim of the present systematic review was to examine the evidence on the accuracy and psychometric properties of the Parkinson’s Disease-Cognitive Rating Scale (PD-CRS) for evaluating the presence of cognitive impairment in patients with Parkinson’s disease (PD) as well as to highlight the quality and quantity of research available on the use of the PD-CRS in this population. We searched four databases from inception until July 2020. Eight studies, published between 2008 and 2020, met the inclusion criteria: One cross-sectional study in which participants were assessed with the index test (PD-CRS) and a reference standard diagnostic assessment, in accordance with the Level II criteria of the International Parkinson and Movement Disorder Society (MDS); one case-control study comparing the PD-CRS to an extensive battery of tests (i.e., MDS Level II diagnosis); and six studies comparing the PD-CRS to other short cognitive batteries. In patients with Parkinson’s disease, the PD-CRS test provides information about cortical and sub-cortical cognitive functions. Even if it demonstrated good psychometric properties, the results regarding the optimal threshold for detecting mild cognitive impairment and dementia in PD are somewhat inconsistent. Further cross-sectional studies are necessary to examine the optimum cut-off score for detecting cognitive dysfunction in PD patients.

scholarly journals Clinical features contributing to the sit-to-stand transfer in people with Parkinson’s disease: a systematic review

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Charmaine Pearl Da Cunha ◽  
Pratiksha Tilak Rao ◽  
Suruliraj Karthikbabu
Keyword(s):  
Systematic Review ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Observational Studies ◽  
Trunk Flexion ◽  
Case Control Studies ◽  
Level Of Evidence ◽  
Cross Sectional ◽  
Joint Torques ◽  
Sit To Stand

Abstract Introduction The aim of this systematic review is to present the existing literature on the clinical motor, and non-motor factors contributing to sit-to-stand transfer in individuals with Parkinson's disease. Data synthesis Five databases (PubMed, PEDro, Cochrane, SCOPUS, and Ovid) were searched for literature on the contributing factors to sit-to-stand performance in Parkinson's disease. A quality check of these observational studies was done using the 'strengthening the reporting of observational studies in epidemiology' (STROBE) statement and the tool of the 'National Heart, Lung, and Blood Institute' (NHLBI). Descriptive and quantitative data were extracted and compiled, and a meta-analysis was performed to compute the standardised mean difference. Results Thirteen studies were selected; a majority of them provided a high-to-moderate level of evidence. Ten were cross-sectional, while the other three were case–control studies. Collectively, individuals with Parkinson's disease had a prolonged transfer time than those of age-matched healthy peers, particularly from peak horizontal velocity phase to seat-off phase, implying bradykinesia. A reduction in peak and rate to peak joint torques was also related to the decreased pace and stability of the sit-to-stand movement in individuals with Parkinson's disease. Additionally, they demonstrated exaggerated trunk flexion as a postural stabilisation strategy, allowing them to maintain and manoeuvre the relative positions of their centre of mass through the transitional phase of the transfer. Conclusion As per the existing literature, an alteration in strength, overall body bradykinesia, balance, posture, as well as cognition may result in an impaired sit-to-stand transfer in individuals with Parkinson's disease.

scholarly journals Sarcopenia in Patients With Parkinson's Disease: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 12 ◽  
Author(s):  
Yingying Cai ◽  
Fei Feng ◽  
Qianqian Wei ◽  
Zheng Jiang ◽  
Ruwei Ou ◽  
...  
Keyword(s):  
Systematic Review ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Clinical Features ◽  
Random Effects ◽  
Meta Analysis ◽  
Risk Of Bias ◽  
Cross Sectional ◽  
Pooled Prevalence ◽  
Cross Sectional Studies

Background: Parkinson's disease (PD) and sarcopenia are two common diseases in aging people. To date, the prevalence of sarcopenia in PD patients and the relationship between clinical features and sarcopenia in PD patients are not clear. The aim of the study was to (1) assess the prevalence of sarcopenia in PD patients and (2) reveal the clinical features between PD patients with and without sarcopenia.Method: A systematic review was carried out through screening PubMed, EMBASE, and Cochrane database in May 2020. All study designs (case–control, cohort, and cross-sectional studies) were eligible for meta-analysis. Data of patients' characteristics, sarcopenia criteria, sarcopenia prevalence, and sarcopenia measures were retrieved. The primary outcome was estimated prevalence of sarcopenia by a pooled prevalence (%) and its 95% confidence interval (CI), using a random-effects model. The secondary outcome was the differences in clinical features between PD patients with and without sarcopenia by meta-analysis. Included articles were assessed for risk of bias. Potential sources of variation were investigated by using subgroup analyses and meta-regression.Result: Ten studies were included in the review. Among them, nine were cross-sectional studies, and one was a prospective cohort study. Age of participants with PD in the studies ranged from 51.1 to 80.7 years. The estimated prevalence of sarcopenia ranged from 6 to 55.5%. The random-effects pooled prevalence was 29% (95% CIs: 0.18–0.40). When only studies at low risk of bias were considered, pooled prevalence decreased to 17% (95% CIs: 0.02–0.33), with still high heterogeneity. The incidence of falls in PD patients with sarcopenia was higher than that in PD patients without sarcopenia. There was no difference in sex ratio between PD patients with and without sarcopenia.Conclusion: Sarcopenia seems to be common in patients with PD. Early assessment of sarcopenia should be implemented in PD to avoid fall and disability.

Dopamine dysregulation syndrome in non-Parkinson’s disease patients: a systematic review

2019 ◽  
Vol 27 (5) ◽  
pp. 456-461
Author(s):  
Jodi Cartoon ◽  
Jothi Ramalingam
Keyword(s):  
Systematic Review ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Replacement Therapy ◽  
Diagnostic Criteria ◽  
Case Reports ◽  
Factitious Disorder ◽  
Novelty Seeking ◽  
Dopamine Dysregulation Syndrome ◽  
Dopamine Replacement Therapy

Objectives: To explore the presence of dopamine dysregulation syndrome in non-Parkinson’s disease patients receiving dopamine replacement therapy. Methods: Electronic searches were conducted of Medline, Embase, PsycINFO and PreMedline to capture articles related to dopamine misuse or factitious disorder combined with the presence of dopamine replacement therapy or a non-Parkinson’s disease population. In total, 430 articles were reviewed and studies that addressed dopamine dysregulation syndrome in non-Parkinson’s disease patients were included. Results: Nine case reports were identified. Conclusions: The pathophysiology underlying dopamine dysregulation syndrome has been thoroughly explored with numerous mechanisms posited. What remains unclear is whether dopamine dysregulation syndrome is a phenomenon specific to Parkinson’s disease, as indicated in the proposed diagnostic criteria. A more useful predictor of susceptibility to dopamine dysregulation syndrome may be temperamental traits such as novelty seeking and impulsivity, which overlap with predisposing factors for an addiction disorder.

scholarly journals Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

2019 ◽  
Vol 9 (3) ◽  
pp. 41
Author(s):  
Ekaterina Y. Ilyechova ◽  
Irina V. Miliukhina ◽  
Marina N. Karpenko ◽  
Iurii A. Orlov ◽  
Ludmila V. Puchkova ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mutation Carrier ◽  
Early Onset ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Amino Acid Sequences ◽  
Experimental Medicine ◽  
Heterozygous Mutation ◽  
Atp7b Gene

In this paper, we report a clinically proven case of Parkinson’s disease (PD) with early onset in a patient who is a heterozygous mutation carrier of ATP7B (the Wilson’s disease gene). The patient was observed from 2011 to 2018 in the Center for Neurodegenerative Diseases, Institute of Experimental Medicine (St. Petersburg, Russia). During this period, the patient displayed aggravation of PD clinical symptoms that were accompanied by a decrease in the ceruloplasmin concentration (from 0.33 to 0.27 g/L) and an increase in serum nonceruloplasmin copper, which are typical of the late stages of Wilson’s disease. It was found that one of the alleles of exon 14 in the ATP7B gene, which partially codes of the nucleotide-binding domain (N-domain), carries a mutation not previously reported corresponding to Cys1079Gly substitution. Alignment of the ATP7B N-domain amino acid sequences of representative vertebrate species has shown that the Cys at 1079 position is conserved throughout the evolution. Molecular dynamic analysis of a polypeptide with Cys1079Gly substitution showed that the mutation causes profound conformational changes in the N-domain, which could potentially lead to impairment of its functions. The role of ATP7B gene mutations in PD development is discussed.

scholarly journals Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

2014 ◽  
Vol 72 (9) ◽  
pp. 653-658 ◽  
Author(s):  
Gotthard G. Tribl ◽  
Edson Bor-Seng-Shu ◽  
Mateus C. Trindade ◽  
Leandro T. Lucato ◽  
Manoel J. Teixeira ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rem Sleep ◽  
Early Treatment ◽  
Wilson’S Disease ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Wilson's Disease ◽  
Initial Symptom ◽  
Sleep Behavior

Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease.

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