scholarly journals Association of GBA Genotype with Motor and Functional Decline in Newly Diagnosed Patients with Parkinsons Disease

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011411
Author(s):  
Jodi Maple-Grødem ◽  
Ingvild Dalen ◽  
Ole-Bjørn Tysnes ◽  
Angus Donald Macleod ◽  
Lars Forsgren ◽  
...  

Objectives:To establish the significance of GBA-carrier status on motor impairment in a large cohort of patients with incident Parkinson’s disease (PD).Methods:Three European population-based studies followed 528 patients with PD from diagnosis. 440 with genomic DNA from baseline were assessed for GBA variants. We evaluated motor and functional impairment annually using the Unified PD Rating Scale (UPDRS) motor and Activity of Daily Living (ADL) sections. Differential effects of classes of GBA variants on disease progression were evaluated using mixed random and fixed effects models.Results:387 idiopathic patients (age at baseline 70.3±9.5 years; 60.2% male) and 53 GBA-carriers (age at baseline 66.8±10.1 years; 64.2% male) were included. The motor profile of the groups was clinically indistinguishable at diagnosis. GBA-carriers showed faster annual increase in UPDRS scores measuring ADL (1.5 points per year, 95% CI 1.1 to 2.0) and motor symptoms (2.2 points per year, 95% CI 1.3 to 3.1) compared to non-carriers (ADL, 1.0 points per year, 95% CI 0.9 to 1.1, P = 0.003; motor, 1.3 points per year, 95% CI 1.1 to 1.6, P = 0.007). Simulations of clinical trial designs showed that recruiting only GBA-carriers can reduce trial size by up to 65% compared to a trial recruiting all patients with PD.Conclusion:GBA variants are linked to a more aggressive motor disease course over seven years from diagnosis in patients with PD. A better understanding of PD progression in genetic subpopulations may improve disease management and has direct implications for improving the design of clinical trials.

2021 ◽  
Vol 11 (7) ◽  
pp. 895
Author(s):  
Karolina A. Bearss ◽  
Joseph F. X. DeSouza

Parkinson’s disease (PD) is a neurodegenerative disease that has a fast progression of motor dysfunction within the first 5 years of diagnosis, showing an annual motor rate of decline of the Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) between 5.2 and 8.9 points. We aimed to determine both motor and non-motor PD symptom progression while participating in dance classes once per week over a period of three years. Longitudinal data was assessed for a total of 32 people with PD using MDS-UPDRS scores. Daily motor rate of decline was zero (slope = 0.000146) in PD-Dancers, indicating no motor impairment, whereas the PD-Reference group showed the expected motor decline across three years (p < 0.01). Similarly, non-motor aspects of daily living, motor experiences of daily living, and motor complications showed no significant decline. A significant group (PD-Dancers and PD-Reference) by days interaction showed that PD who train once per week have less motor impairment (M = 18.75) than PD-References who do not train (M = 24.61) over time (p < 0.05). Training is effective at slowing both motor and non-motor PD symptoms over three years as shown in decreased scores of the MDS-UPDRS.


2020 ◽  
Vol 75 (12) ◽  
pp. 2396-2403 ◽  
Author(s):  
Arlette Edjolo ◽  
Jean-François Dartigues ◽  
Karine Pérès ◽  
Cécile Proust-Lima

Abstract Background A critical step toward successful aging is to identify opportunities for prevention of functional decline. Our aim was to describe the heterogeneity in trajectories of dependency preceding death in elders and to identify factors associated with this heterogeneity. Methods The study relied on 3,238 participants of the prospective population-based PAQUID cohort aged 65+ at baseline in 1988. Dependency was defined from an 11-item scale of basic and instrumental activities of daily living (ADL: bathing, dressing, toileting, continence, eating, and transferring; instrumental activities of daily living (IADL): telephoning, shopping, using transport, handling medication, and managing finances) collected over 22 years. Heterogeneous trajectories were estimated using a longitudinal item response theory model including latent classes. Results Five distinct profiles of functional dependency were identified over the two last decades of life: persistently high (12%), moderate (26%), persistently low (40%), and accelerated high dependency (15%), and no dependency (8%). Main factors associated with heterogeneity included age at death, sex, education, initial cognition (Mini-Mental State Examination [MMSE] score and dementia), initial disability, and poly-medication. Conclusions In the two last decades of life, more than 9 elders in 10 were characterized as functional decliners. On average, around half of the elders died with no or mild dependency, while 27% live several years with a high level of limitations and would need assistance in activities of daily living, at least for 2–4 years preceding death. The identified factors associated with these trajectories are important to understand functional heterogeneity in elders and to propose interventions to postpone or prevent “chronic” disability.


2011 ◽  
Vol 107 (11) ◽  
pp. 1707-1713 ◽  
Author(s):  
Li-Chin Lee ◽  
Alan C. Tsai

Nutrition is a key element in geriatric health and is important for functional ability. The present study examined the functional status-predictive ability of the Mini-Nutritional Assessment (MNA). We analysed the dataset of the ‘Survey of Health and Living Status of the Elderly in Taiwan’, a population-based study conducted by the Bureau of Health Promotion of Taiwan. Study subjects ( ≥ 65 years old) who completed both the 1999 and 2003 surveys were rated with the long form and short form of the MNA at baseline and with the Activities of Daily Living (ADL) and the Instrument Activities of Daily Living (IADL) scales 4 years later (end-point). The ability of the MNA to predict ADL or IADL dependency was evaluated with logistic regression models. The results showed that the elderly who were rated malnourished or at risk of malnutrition at baseline generally had significantly higher ADL or IADL scores 4 years later. Lower baseline MNA scores also predicted a greater risk of ADL or IADL dependency. These associations exist even among the elderly who were free of ADL or IADL dependency at baseline. The results clearly indicate that the MNA is able to predict ADL and IADL dependency (in addition to rating current nutritional status) of the elderly. The MNA, especially the short form, should be a valuable tool for identifying elderly at risk of functional decline and/or malnutrition in clinical practice or community programmes.


2008 ◽  
Vol 2 (2) ◽  
pp. 96-101 ◽  
Author(s):  
Florindo Stella ◽  
Claudio Eduardo Muller Banzato ◽  
Elizabeth Maria Aparecida Barasnevicius Quagliato ◽  
Maura Aparecida Viana ◽  
Gustavo Christofoletti

Abstract Functional decline in Parkinson's disease (PD), characterized by reduced ability to carry out activities of daily living, usually results from typical motor impairment and may be aggravated by concomitant cognitive impairment. Objective: To compare the functional decline in Parkinson's disease between patients with dementia and cognitively preserved patients. Methods: From an original sample composed of 50 patients with a clinical diagnosis of idiopathic PD seen in a consecutive series, 33 non-depressed patients were selected comprising 13 with dementia and 20 cognitively preserved individuals. All patients enrolled in this study were drawn from a public outpatient clinic, specialized in movement disorders. The clinical stage of PD was determined by the Hoehn & Yahr scale, and the functional capacity was verified using the Unified Parkinson's Disease Rating Scale UPDRS ADL (subscale II: activities of daily living) and the Schwab & England scale. The two last scales measure the functional degree of independence in activities of daily living. The neuropsychological assessment was performed using The Cambridge Examination for Mental Disorders of the Elderly - CAMCOG, Cognitive Section and the Stroop Color Word Test. Results: As expected, in comparison with cognitively preserved patients, the group with dementia presented significantly lower scores throughout the neuropsychological evaluation. The patients with dementia were found to have a longer period of disease, a more advanced clinical staging according to the Hoehn & Yahr, and greater functional decline according both to the UPDRS ADL and Schwab & England, with statistically significant difference between the groups. Conclusion: Patients with dementia were at a more advanced clinical stage of Parkinson's disease and evidenced greater functional decline in comparison with patients without dementia.


2016 ◽  
Vol 6 (2) ◽  
pp. 185-193
Author(s):  
Marcos Aparecido Sarria Cabrera ◽  
Maira Aira Sayuri Sakay Bortoletto ◽  
Regina Kazue Tanno de Souza ◽  
Douglas Manuel Carrapeiro Prina ◽  
Maria Cristina Umpierrez Vieira ◽  
...  

Aims: To identify the frequency of cognitive and functional decline (CFD) among adults 50 years of age and older by a population-based study. Methods: Cognitive function was analyzed by the Mini-Mental State Examination, and the functional conditions were based on instrumental activities of daily living (IADL). Cases of CFD included individuals with cognitive decline and 2 or more compromised IADL. Results: A total of 693 individuals were studied. The frequency of CFD was 16.3%. A low socioeconomic profile was associated with greater CFD independent of gender, age, education, and presence of depression (OR = 2.46; 95% CI: 1.53-3.97). Conclusions: These data show a high frequency of CFD among adults 50 years and older. Individuals with less education and a lower socioeconomic level exhibited poorer cognitive and functional conditions.


Neurology ◽  
2001 ◽  
Vol 57 (3) ◽  
pp. 481-488 ◽  
Author(s):  
R. C. Mohs ◽  
R. S. Doody ◽  
J.C. Morris ◽  
J. R. Ieni ◽  
S. L. Rogers ◽  
...  

Objective: To examine the effects of donepezil compared with placebo on the preservation of function in patients with AD over a 1-year period.Methods: This was a prospective, 54-week, double-blind, placebo-controlled, survival to endpoint study. Patients were required to have at entry: a diagnosis of probable AD (National Institute of Neurological and Communicative Disorders and Stroke criteria); Mini-Mental State Examination score of 12 to 20; Clinical Dementia Rating of 1 or 2; modified Hachinski ischemia score ≤4; and capability of performing 8 of 10 instrumental activities of daily living and 5 of 6 basic activities of daily living. Patients (n = 431) were randomized to placebo or donepezil (5 mg/day for 28 days, 10 mg/day thereafter). Outcome measures were the AD Functional Assessment and Change Scale, the Mini-Mental State Examination, and Clinical Dementia Rating scale. At each visit, investigators determined whether predefined criteria for clinically evident decline in functional status had been met. Patients who met the endpoint criteria were discontinued per protocol.Results: Donepezil extended the median time to clinically evident functional decline by 5 months versus placebo. The probability of patients treated with donepezil remaining in the study with no clinically evident functional loss was 51% at 48 weeks, compared with 35% for placebo. The Kaplan–Meier survival curves for the two treatment groups were different (p = 0.002, log-rank test).Conclusions: Patients with AD continue to show detectable disease progression over time, but treatment with donepezil for 1 year was associated with a 38% reduction in the risk of functional decline compared with placebo.


2020 ◽  
Vol 10 (6) ◽  
pp. 357-367
Author(s):  
Miguel Germán Borda ◽  
Alberto Jaramillo-Jimenez ◽  
Diego A Tovar-Rios ◽  
Daniel Ferreira ◽  
Elkin Garcia-Cifuentes ◽  
...  

Background: Hippocampal atrophy is presented in Alzheimer’s disease (AD) and dementia with Lewy bodies (DLB). Cognition, dual-tasks, muscular function, goal-related behaviors and neuropsychiatric symptoms are linked to hippocampal volumes and may lead to functional decline in activities of daily living. We examined the association between baseline hippocampal subfield volumes (HSv) in mild AD and DLB, and functional decline. Materials & methods: 12 HSv were computed from structural magnetic resonance images using Freesurfer 6.0 segmentation. Functional decline was assessed using the rapid disability rating scale score. Linear regressions were conducted. Results: In AD, HSv were smaller bilaterally. However, HSv were not associated with functional decline. Conclusion: Functional decline does not depend on HSv in mild AD and DLB.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Mon S. Bryant ◽  
Gu Eon Kang ◽  
Elizabeth J. Protas

Abstract Background Many persons living with Parkinson’s disease (PD) have difficulty rising from a chair. Impaired ability to perform the chair rise may be associated with low physical activity levels and reduced ability to perform activities of daily living (ADL). Methods Cross-sectional analysis was performed in 88 persons with PD to study the association of chair rising ability with ADL and physical activity. Results We found that the participants who pushed themselves up from the chair had more severe PD, higher motor impairment and more comorbidity than those who rose from a chair normally. The Unified Parkinson’s Disease Rating Scale ADL (UPDRS-ADL), Schwab and England Activities of Daily Living Scale (SE-ADL) and the Physical Activity Scale for the Elderly (PASE) scores for the participants who pushed themselves up to rise (17.20 ± 7.53; 76.67 ± 13.23; 46.18 ± 52.64, respectively) were significantly poorer than for those who rose normally (10.35 ± 3.79; 87.64 ± 8.30; 112.90 ± 61.40, respectively) (all p < .05). Additionally, PASE scores were significantly poorer for participants who pushed themselves up to rise compared to those who rose slowly (95.21 ± 60.27) (p < .01). Pushing up to rise from a chair was a significant predictor of UPDRS-ADL (β = .357; p < .001; R2 = .403), SE-ADL (β = −.266; p = .009; R2 = .257) and PASE (β = −.250; p = .016; R2 = .162). Conclusions Ability to rise from a chair was associated with ADL limitation and physical activity in persons with PD. Poor ability to rise from a chair may prevent persons from living independently and engaging in physical activity.


2020 ◽  
Vol 6 (2) ◽  
pp. 164-170
Author(s):  
Dewi Nurlaela Sari ◽  
Aay Rumhaeni

ABSTRAK Sectio caesarea merupakan tindakan alternatif dalam proses persalinan untuk menyelamatkan ibu dan janin. Ibu Bersalin dengan operasi sectio caesarea dilakukan pembedahan pada dinding abdomen dan dinding rahim. Dampak yang paling sering muncul dirasakan oleh postpartum dengan post operasi sectio caesarea adalah  nyeri. Nyeri akan berdampak pada bounding attachment terganggu, mobilisasi terbatas, Activity Daily Living (ADL) terganggu serta berpengaruh  terhadap Inisiasi Menyusui Dini (IMD). Asuhan yang diberikan terbatas pada terapi farmakologi dibandingkan  non farmakologi. Foot massage adalah salah satu terapi non farmakologi yang dapat membantu menutup gerbang di posterior horns dari sumsum tulang belakang dan memblokir bagian dari nyeri ke sistem saraf pusat. Tujuan penelitian ini untuk mengetahui pengaruh foot massage terhadap skala nyeri pada klien post operasi sectio caesarea di RS AMC. Penelitian ini merupakan penelitian pre eksperimen dengan pendekatan one group pre test post test design. Jumlah sampel yang digunakan berjumlah 27 orang dengan menggunakan teknik purposive sampling. Instrumen yang digunakan adalah Numeric Rating Scale (NRS) dan prosedur kerja foot massage. Responden dilakukan foot massage selama 20 menit selama 2 hari. Data di analisis dengan menggunakan uji wilcoxon. Hasil penelitian menunjukkan lebih dari setengah klien post operasi sectio caesarea berada di skala nyeri 6 sebelum dilakukan foot massage dan hampir setengah memiliki skala nyeri 3 sesudah dilakukan foot massage dan didapatkan nilai p value = 0.000, sehingga disimpulkan ada pengaruh foot massage terhadap skala nyeri pada klien post operasi sectio caesarea. Diharapkan rumah sakit dapat menjadikan foot massage sebagai salah satu alternatif manajemen non farmakologi dalam penanganan nyeri.   Kata kunci: Foot Massage; Post Partum; Nyeri; Sectio Caesarea      


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