Perry disease is a hereditary neurodegenerative disease with autosomal dominant inheritance. It is characterized by parkinsonism, psychiatric symptoms, unexpected weight loss, central hypoventilation, and transactive-response DNA-binding protein of 43kD (TDP-43) aggregation in the brain. In 2009, Perry disease was found to be caused by dynactin I gene (DCTN1), which encodes dynactin subunit p150 on chromosome 2p, in patients with the disease. The dynactin complex is a motor protein that is associated with axonal transport. Presently, at least 8 mutations and 22 families have been reported; other than the “classic” syndrome, distinct phenotypes are recognized. The neuropathology of Perry disease reveals severe degeneration in the substantia nigra and TDP-43 inclusions in the basal ganglia and brain stem. How dysfunction of the dynactin molecule is related to TDP-43 pathology in Perry disease is important to elucidate the pathological mechanism and develop new treatment.
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Objective The consensus is that life expectancy for individuals with Parkinson’s disease (PD) is reduced, but estimations vary. We aimed to provide an overview of 20 years of mortality and risk factor data from the Queensland Parkinson’s Project.
Methods The analysis included 1,334 PD and 1,127 control participants. Preliminary analysis of baseline characteristics (sex, age at onset, family history, smoking status, pesticide exposure, depression and neurosurgery) was conducted, and Kaplan–Meier curves were generated for each potential risk factor. Standardized mortality ratios (SMRs) were calculated comparing this cohort to the general Australian population. Cox proportional hazards regression modeling was used to analyze potential predictors of mortality.
Results In total, 625 (46.8%) PD and 237 (21.0%) control participants were deceased. Mean disease duration until death was 15.3 ± 7.84 years. Average ages at death were 78.0 ± 7.4 years and 80.4 ± 8.4 years for the deceased PD and control participants, respectively. Mortality was significantly increased for PD in general {SMR = 2.75 [95% confidence interval (CI): 2.53–2.96]; p = 0.001}. SMRs were slightly higher for women and those with an age of onset before 60 years. Multivariate analysis showed that deep brain stimulation (DBS) treatment was associated with lower mortality [hazard ratio (HR) = 0.76; 95% CI: 0.59–0.98], while occasional pesticide exposure increased mortality risk (HR = 1.48; 95% CI: 1.17–1.88). Family history of PD, smoking and depression were not independent predictors of mortality.
Conclusion Mortality in PD is increased. Sex, age at onset and occasional pesticide exposure were independent determinants of increased mortality, while DBS treatment was associated with reduced mortality.
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Objective Motor and non-motor symptoms (NMS) negatively impact the health-related quality of life (HRQoL) for individuals with Parkinson’s disease (PD), as well as their caregivers. NMS can emerge decades prior to the manifestation of motor symptoms but often go unrecognized and therefore untreated. To guide clinical management, we surveyed differences and identified factors that influence HRQoL in a cohort of PD patients and family caregivers.
Methods A total of 103 PD patients were compared with 81 caregivers. Outcome measures collected from validated questionnaires included generic and disease-specific HRQoL assessments, depression frequency and severity, constipation severity, upper and lower gastrointestinal symptoms, physical activity and motor symptom severity.
Results PD patients reported significantly decreased physical and mental HRQoL compared to their caregivers (both p < 0.001). Unemployment, the need for social support services, rehabilitation use, REM sleep behavior disorder, impulse control disorders and features suggestive of increasing disease severity hallmarked by increasing PD duration, higher MDS UPDRS-III (Movement Disorder Society–Unified Parkinson’s Disease Rating Scale–Part III) scores, higher daily levodopa equivalence dose and motor fluctuations were consistent with a lower HRQoL in our PD cohort. Furthermore, decreased physical activity, chronic pain, depression, constipation and upper gastrointestinal dysfunction (particularly indigestion, excess fullness and bloating) suggested vulnerability to reduced HRQoL. Overall, PD patients perceived their health to decline by 12% more than their caregivers did over a 1-year period.
Conclusion PD patients reported decreased HRQoL, with both motor symptoms and NMS negatively impacting HRQoL. Our findings support the routine clinical screening of HRQoL in PD patients to identify and address modifiable factors.
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Gastrointestinal Dysfunction Impact on Life Quality in a Cohort of Russian Patients with Parkinson’s Disease I-III H&Y Stage A. A. Pilipovich, O. V. Vorob’eva, S. A. Makarov, N. N. Shindryaeva, Yu D. Vorob’eva, Seyed-Mohammad Fereshtehnejad Parkinson's Disease.2022; 2022: 1. CrossRef
Nutritional Intake and Gut Microbiome Composition Predict Parkinson’s Disease Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue Frontiers in Aging Neuroscience.2022;[Epub] CrossRef
The Gut Microbiome in Parkinson’s Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies Michal Lubomski, Xiangnan Xu, Andrew J. Holmes, Samuel Muller, Jean Y. H. Yang, Ryan L. Davis, Carolyn M. Sue Frontiers in Aging Neuroscience.2022;[Epub] CrossRef
Characteristics and quality of life of substance users and their caregivers Jadranka M. Maksimovic, Olivera B. Sbutega, Aleksandar D. Pavlovic, Hristina D. Vlajinac, Ivana I. Kavecan, Isidora S. Vujcic, Sandra B. Grujicic Sipetic Medicine.2022; 101(31): e29699. CrossRef
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Increased Added Sugar Consumption Is Common in Parkinson's Disease Natalie C. Palavra, Michal Lubomski, Victoria M. Flood, Ryan L. Davis, Carolyn M. Sue Frontiers in Nutrition.2021;[Epub] CrossRef
Relationship Satisfaction in People with Parkinson’s Disease and Their Caregivers: A Cross-Sectional Observational Study Johanne Heine, Hannah von Eichel, Selma Staege, Günter U. Höglinger, Florian Wegner, Martin Klietz Brain Sciences.2021; 11(6): 822. CrossRef
Diagnosis and Management of Pain in Parkinson's Disease: A New Approach Veit Mylius, Jens Carsten Möller, Stephan Bohlhalter, Daniel Ciampi de Andrade, Santiago Perez Lloret Drugs & Aging.2021; 38(7): 559. CrossRef
Cognitive Influences in Parkinson's Disease Patients and Their Caregivers: Perspectives From an Australian Cohort Michal Lubomski, Ryan L. Davis, Carolyn M. Sue Frontiers in Neurology.2021;[Epub] CrossRef
Objective To assess the impact of periocular surgery, other than orbicularis stripping, on the severity and frequency of blepharospasm symptoms.
Methods Consecutive patients with benign essential blepharospasm (BEB) who underwent eyelid/eyebrow surgery with the aim of improving symptoms were retrospectively reviewed over a 5-year period. Patients who had completed the Jankovic Rating Scale (JRS) and Blepharospasm Disability Index (BDI) pre- and at least 3 months postoperatively were included.
Results Twenty-four patients were included. JRS scores significantly improved from 7.0 preoperatively to 4.1 postoperatively (p < 0.001), and BDI scores significantly improved from 18.4 preoperatively to 12.7 postoperatively (p < 0.001); the mean percentage improvements were 41% and 30%, respectively. Patients were followed for a median of 24 months postoperatively.
Conclusion Periocular surgery significantly reduced BEB symptoms in the majority (83%) of patients by an average of 33% and may therefore be offered for suitable patients. An important minority (17%) of patients experienced symptom worsening.
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Objective Willingness to undergo deep brain stimulation (DBS) among patients with Parkinson’s disease (PD) and their overall satisfaction with the procedure is highly dependent upon expectations, which are based on the core concepts of knowledge, attitude and perceptions. The present study aims to evaluate these factors in patients and caregivers with PD from a single tertiary care hospital in India.
Methods A structured questionnaire designed to assess the knowledge, attitude and perceptions about DBS in PD was administered to 400 patients with PD and their caregivers.
Results A very small proportion of patients and caregivers were aware of DBS. Even those who claimed to be aware of DBS were inadequately informed and had incorrect knowledge, which led to wrong attitudes and perceptions.
Conclusion There are very significant knowledge gaps and misconceptions regarding DBS among patients with PD and caregivers. Adequate and appropriate education is necessary to clarify these misconceptions to avoid the development of unrealistic expectations and poor satisfaction.
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