Glucocerebrosidase Mutations and Motor Reserve in Parkinson’s Disease

2021 ◽  
pp. 1-10
Author(s):  
Seok Jong Chung ◽  
Phil Hyu Lee ◽  
Young H. Sohn ◽  
Yun Joong Kim
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rating Scale ◽  
Motor Deficits ◽  
Dopamine Depletion ◽  
Affected Side ◽  
Disease Rating ◽  
Individual Capacity ◽  
The Individual ◽  
Gba Mutations

Background: The concept of motor reserve explains the individual differences in motor deficits despite similar degrees of nigrostriatal dopamine depletion in Parkinson’s disease (PD). Objective: To investigate glucocerebrosidase (GBA) variants as potential determinants of motor reserve for exploratory purposes. Methods: A total of 408 patients with drug-naïve PD were enrolled from the Parkinson’s Progression Markers Initiative cohort database. All patients underwent SPECT dopamine transporter (DAT) scans and had results for Sanger sequencing of GBA. Parkinsonian motor deficits were assessed using the Movement Disorders Society Unified Parkinson’s Disease Rating Scale Part III (MDS-UPDRS-III). We compared MDS-UPDRS-III scores while adjusting for DAT availability in the putamen (i.e., motor reserve) between the PD groups according to the presence of GBA mutations. Results: Fifty-four (13.2%) patients carried GBA mutations. PD patients with GBA mutations were younger than those without mutations. There were no significant differences in sex, disease duration, years of education, and striatal DAT availability between the PD groups. PD patients with GBA mutations had higher MDS-UPDRS-III scores for the less affected side than those without mutations, despite similar levels of DAT availability in the contralateral putamen. The MDS-UPDRS-III sub-scores of the more affected side did not differ between the two PD groups. Conclusion: The results of this study demonstrated the detrimental effect of GBA variants on individual capacity to cope with PD-related pathologies, with different impacts depending on the motor laterality.

scholarly journals Stereopsis in Drug Naïve Parkinson's Disease Patients

2011 ◽  
Vol 38 (2) ◽  
pp. 299-302 ◽  
Author(s):  
Seung-Hyun Kim ◽  
Ji-Hye Park ◽  
Yu Hwan Kim ◽  
Seong-Beom Koh
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Visual Perception ◽  
Rating Scale ◽  
De Novo ◽  
Motor Deficits ◽  
Disease Rating ◽  
Drug Naïve ◽  
The Relationship ◽  
Abnormal Visual

Background:Motor deficits associated with Parkinson's disease (PD) have been well described, yet little attention has been paid to non-motor symptoms, especially cortical visual dysfunction. We investigated stereopsis, as well as the relationship between stereopsis and other cognitive function, in a sample of PD patients.Methods:We used Titmus stereotest plates for assessing stereopsis. Fifty-nine subjects (29 PD patients and 30 normal controls) were included in this study. The included patients underwent a neurological examination, clinical rating scale and neuropsychological tests.Results:Drug naïve PD patients showed decreased stereopsis on the Titmus fly stereopsis test (Pearson χ2=23.80, p<0.001) compared to PD patients with normal stereopsis. The Hoehn-Yahr stages and Unified Parkinson's Disease Rating Scale motor scores were significantly higher in patients with PD with abnormal stereopsis than in patients with PD with normal stereopsis (p=0.026; p=0.046). The frequency of abnormal visual perception/constructive function was greater in patients with PD with abnormal stereopsis compared to patients with PD with normal stereopsis (Pearson χ2=5.11, p=0.024).Conclusion:These findings suggest that stereopsis deficits and visual perception/constructive dysfunction are common in de novo PD patients.

Association of the Non-Motor Burden with Patterns of Striatal Dopamine Loss in de novo Parkinson’s Disease

2020 ◽  
Vol 10 (4) ◽  
pp. 1541-1549
Author(s):  
Seok Jong Chung ◽  
Sangwon Lee ◽  
Han Soo Yoo ◽  
Yang Hyun Lee ◽  
Hye Sun Lee ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
De Novo ◽  
Early Stage ◽  
Striatal Dopamine ◽  
Motor Deficits ◽  
Dopamine Depletion ◽  
Severe Motor ◽  
Severe Group ◽  
Striatal Dopamine Depletion

Background: Striatal dopamine deficits play a key role in the pathogenesis of Parkinson’s disease (PD), and several non-motor symptoms (NMSs) have a dopaminergic component. Objective: To investigate the association between early NMS burden and the patterns of striatal dopamine depletion in patients with de novo PD. Methods: We consecutively recruited 255 patients with drug-naïve early-stage PD who underwent 18F-FP-CIT PET scans. The NMS burden of each patient was assessed using the NMS Questionnaire (NMSQuest), and patients were divided into the mild NMS burden (PDNMS-mild) (NMSQuest score <6; n = 91) and severe NMS burden groups (PDNMS-severe) (NMSQuest score >9; n = 90). We compared the striatal dopamine transporter (DAT) activity between the groups. Results: Patients in the PDNMS-severe group had more severe parkinsonian motor signs than those in the PDNMS-mild group, despite comparable DAT activity in the posterior putamen. DAT activity was more severely depleted in the PDNMS-severe group in the caudate and anterior putamen compared to that in the PDMNS-mild group. The inter-sub-regional ratio of the associative/limbic striatum to the sensorimotor striatum was lower in the PDNMS-severe group, although this value itself lacked fair accuracy for distinguishing between the patients with different NMS burdens. Conclusion: This study demonstrated that PD patients with severe NMS burden exhibited severe motor deficits and relatively diffuse dopamine depletion throughout the striatum. These findings suggest that the level of NMS burden could be associated with distinct patterns of striatal dopamine depletion, which could possibly indicate the overall pathological burden in PD.

scholarly journals Salivary caffeine in Parkinson’s disease

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Giorgio Leodori ◽  
Maria Ilenia De Bartolo ◽  
Daniele Belvisi ◽  
Alessia Ciogli ◽  
Andrea Fabbrini ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rating Scale ◽  
De Novo ◽  
Oral Intake ◽  
Caffeine Intake ◽  
Motor Complications ◽  
Disease Rating ◽  
Caffeine Metabolism ◽  
Movement Disorder Society

AbstractWe aimed to investigate salivary caffeine content, caffeine absorption and metabolism in Parkinson’s disease (PD) and verify whether salivary caffeine can be used as a biomarker of PD. We enrolled 98 PD patients and 92 healthy subjects. Caffeine and its major metabolite, paraxanthine, were measured in saliva samples collected before and 4 h after the oral intake of caffeine (100 mg). We measured caffeine absorption as the normalized increase in caffeine levels, and caffeine metabolism as the paraxanthine/caffeine ratio. The Movement Disorder Society Unified Parkinson's Disease Rating Scale part III, the Hoehn & Yahr, the presence of motor complications, and levodopa equivalent dose (LED) were assessed and correlated with caffeine levels, absorption, and metabolism. The effects of demographic and environmental features possibly influencing caffeine levels were also investigated. Caffeine levels were decreased in patients with moderate/advanced PD, while caffeine levels were normal in patients with early and de-novo PD, unrelated to caffeine intake. Caffeine absorption and metabolism were normal in PD. Decreased salivary caffeine levels in PD were associated with higher disease severity, longer duration, and the presence of motor complications, no significant association was found with LED. Salivary caffeine decrease correlates with PD progression.

scholarly journals A Comparison of Pain between Parkinson’s Disease and Multiple System Atrophy: A Clinical Cross-Sectional Survey

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
He-Yang You ◽  
Lei Wu ◽  
Hai-Ting Yang ◽  
Chen Yang ◽  
Xiao-Ling Ding
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Multiple System Atrophy ◽  
Rating Scale ◽  
Depression Scale ◽  
Healthy Controls ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Disease Rating ◽  
Vas Scores

Background. Pain is frequent in Parkinson’s disease (PD) and Parkinson-plus syndrome. This study aimed to assess the prevalence, characteristics, therapy (especially the effect of dopaminergic therapy), and associated symptoms of pain in Parkinson's disease and multiple system atrophy (MSA) patients. Methods. Seventy-one PD patients, sixty-five MSA patients, and forty age-matched healthy controls were enrolled and evaluated by using the German pain questionnaire and visual analogue scale (VAS). In addition, the influence of pain in PD patients on anxiety, depression, and the quality of life was assessed with the Hospital Anxiety and Depression Scale (HADS) and Parkinson’s Disease Questionnaire (PDQ-39). Results. Compared to that of the healthy controls, the PD and MSA patients had a significantly higher presence of pain (P<0.01, P<0.01). PD patients had a higher presence of pain than MSA patients (P=0.007). No difference in VAS scores was observed between the PD and MSA patients (P=0.148). A total of 21 PD patients (42.85%) with pain and 13 MSA patients (43.33%) with pain received treatment. A total of 13 PD patients with pain and 6 MSA patients with pain had an improved pain intensity after using dopaminergic medication. The differences in the disease duration, Hoehn and Yahr stages, and scores on the Unified Parkinson’s Disease Rating Scale motor score, HAD-D, HAD-A, and PDQ-39 were significant between the PD patients with and without pain. Conclusion. PD and MSA patients are prone to pain with insufficient treatment. Pain interventions should be provided as soon as possible to improve the patient’s life.

scholarly journals The Parkinson’s Disease Comprehensive Response (PDCORE): a composite approach integrating three standard outcome measures

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Matthias Luz ◽  
Alan Whone ◽  
Niccolò Bassani ◽  
Richard K Wyse ◽  
Glenn T Stebbins ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cell Line ◽  
Glial Cell ◽  
Neurotrophic Factor ◽  
Rating Scale ◽  
Initial Development ◽  
Disease Rating ◽  
Recent Phase ◽  
Data Source

Abstract There is an increasing need for improved endpoints to assess clinical trial effects in Parkinson’s disease. We propose the Parkinson’s Disease Comprehensive Response as a novel weighted composite endpoint integrating changes measured in three established Parkinson’s outcomes, including: OFF state Movement Disorder Society Unified Parkinson’s Disease Rating Scale Motor Examination scores; Motor Experiences of Daily Living scores; and total good-quality ON time per day. The data source for the initial development of the composite described herein was a recent Phase II trial of glial cell line-derived neurotrophic factor. A wide range of clinically derived relative weights was assessed to normalize for differentially scoring base rates with each endpoint component. The Parkinson’s disease comprehensive response, in contrast to examining practically defined OFF state Unified Parkinson’s Disease Rating Scale Motor Examination scores alone, showed stability over 40 weeks in placebo patients, and all 432 analyses in this permutation exercise yielded significant differences in favour of glial cell line-derived neurotrophic factor. The findings were consistent with results obtained employing three different global statistical test methodologies and with patterns of intra-patient change. Based on our detailed analyses, we conclude it worth prospectively evaluating the clinical utility, validity and regulatory feasibility of using clinically supported final Parkinson’s disease comprehensive response formulas (for both the Unified Parkinson’s Disease Rating Scale-based and Movement Disorders Society-Unified Parkinson’s Disease Rating Scale-based versions) in future disease-modifying Parkinson’s trials. Whilst the data source employed in the initial development of this weighted composite score is from a recent Phase II trial of glial cell line-derived neurotrophic factor, we wish to stress that the results are not described to provide post hoc evidence of the efficacy of glial cell line-derived neurotrophic factor but rather are presented to further the debate of how current regulatory approved rating scales may be combined to address some of the recognized limitations of using individual scales in isolation.

scholarly journals The perception of apathy by caregivers of patients with dementia in Parkinson's disease

2016 ◽  
Vol 10 (4) ◽  
pp. 339-343 ◽  
Author(s):  
Carlos Henrique Ferreira Camargo ◽  
Rafael Arthur Serpa ◽  
Thiago Matnei ◽  
Jivago Szpoganicz Sabatini ◽  
Hélio Afonso Ghizoni Teive
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rating Scale ◽  
Neuropsychiatric Symptoms ◽  
Parkinson’S Disease Dementia ◽  
Disease Rating

ABSTRACT Background: Apathy is one of the main neuropsychiatric symptoms in patients with Parkinson's disease (PD) and is associated with Parkinson's disease dementia (PDD). Objective: To identify the characteristics of apathy in individuals with PDD according to caregiver perception. Methods: Thirty-nine patients with PD according to MDS criteria for PDD were included. The following scales were used: the Hoehn and Yahr, the Unified Parkinson's Disease Rating Scale III, Scales for Outcomes in Parkinson's Disease-Cognition (SCOPA Cog), the Montgomery-Åsberg Depression Rating Scale (MADRS) and the Apathy Evaluation Scale (AES). Results: A total of 97.4% of the patients showed results consistent with apathy. Analysis of question 14 of the AES revealed no correlation with the total result of all the questions [r=-1293, r²=0.0167, 95%CI (-0.4274 to 0.1940), P=0.2162], however, there was a correlation of responses to the same question with depression data on the MADRS scale [r=-0.5213, r²=0.2718, 95%CI (-0.7186 to -0.2464), P=0.00033]. Conclusion: Apathy is a disorder associated with PDD. However, the scoring scheme of the AES questions can lead to different interpretations of caregiver responses, highlighting limitations of the tool for use in studies of PDD.

Exploration of Parkinson’s Disease Symptomatology Subtypes From the Caregiver Perspective: Implications for Caregiver Burden, Depression, and Anxiety

2021 ◽  
pp. 089198872110491
Author(s):  
Sarah K. Lageman ◽  
Emily K. Donovan ◽  
Teresita Villaseñor ◽  
Paul B. Perrin
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Caregiver Burden ◽  
Rating Scale ◽  
Caregiver Support ◽  
Patient Health ◽  
Disease Rating ◽  
Symptom Patterns ◽  
Caregiver Anxiety ◽  
The U.S

Background: While research has demonstrated associations between Parkinson’s disease (PD) severity and caregiver burden and emotional functioning, less is known about the associations between specific PD symptom patterns and caregiver functioning. Objective: The purpose of the current study was to explore symptomatology subtypes in PD from the caregiver perspective in the U.S. and Mexico and to determine whether caregiver burden, depression, or anxiety differed by PD symptomatology subtype. Methods: Two hundred fifty-three caregivers ( M age = 59.9) completed Parts I and II of the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), the Zarit Burden Interview, Patient Health Questionnaire-9, and Generalized Anxiety Disorder-7 scales. Results: Cluster analysis using domains from the MDS-UPDRS revealed 5 symptomatology subtypes: pain/motor predominant, low symptoms, severe diffuse symptoms, moderate restricted symptoms with speech/oral predominant, and mood predominant. Caregiver burden was greatest for caregivers of individuals in the severe diffuse symptom and moderate restricted symptoms with speech/oral predominant clusters. High caregiver depression and caregiver anxiety were observed in all clusters other than the low symptoms cluster. There were no site by cluster interactions, suggesting that symptom patterns contribute to caregiver functioning in similar ways in the U.S. and Mexico. Conclusions: This data-driven analysis revealed 5 symptomatology subtypes of PD from caregivers’ perspectives and highlighted the need for treatments and interventions based on predominant PD symptom expression. Importance of caregiver support across various symptomatology expressions, and particularly on specialist treatment for predominant speech/oral difficulties was recommended.

Sign in / Sign up

Export Citation Format

Share Document