BackgroundPunding is a stereotyped behavior characterized by an intense fascination with a complex, excessive, non-goal oriented, repetitive activity affecting individuals with Parkinson's disease (PD) on dopamine replacement therapy (DRT). ObjectivesIn 2010, we published the first review focused on the pathophysiology of punding. This study aims to systematically review the literature of the past decade on punding in PD, particularly focusing on the clinical features, underlying pathophysiological mechanisms, and treatment. MethodsFollowing Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we searched PubMed, Embase, and APA PsycInfo for articles published between July 1, 2010 and March 19, 2022. The search strategy included: (punding) AND (parkinson*). ResultsOf 256 studies identified, 29 were eligible for inclusion with 19 original research articles and 10 case reports. This review confirmed that predictors of punding in PD are higher doses of DRT, younger age, male sex, and increasing disease severity. We also found an association between punding and psychiatric and/or cognitive symptoms. Neuroimaging studies have showed that punding in PD is associated with a disconnection between midbrain, limbic and white matter tracts projecting to the frontal cortices and a breakdown of the connectivity among the crucial nodes of the reward circuit. Low-frequency repetitive transcranial magnetic stimulation on the dorsolateral prefrontal cortex has been shown to produce a transient beneficial effect in PD patients with punding. ConclusionIn conclusion, although the clinical features of punding have been established, in the past 12 years, we gained a better understanding of the pathophysiological mechanisms of punding, mainly thanks to magnetic resonance imaging techniques.
26 August 2022 in Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Objective: To characterize Parkinson’s disease (PD) symptoms based on the presence, onset time, and severity of rapid eye movement sleep behavior disorder (RBD) and their association with impulse control disorders (ICD).Background: RBD is a frequent non-motor symptom in PD, usually described as prodromal. The severity of RBD according to the start time and its relationship with ICD in PD needs further clarification.Methods: A survey-based study was performed to determine the presence of RBD symptoms, their severity, and the temporal relationship with the PD onset. The survey included RBD1Q, the Mayo Sleep, and the RBDQ-HK questionnaires and questions about clinical characteristics, including ICD. Only PD patients with care partners spending night hours in the same room were included.Results: 410 PD patients were included: 206 with RBD (50.2%) and 204 non-RBD (49.8%). The PD-RBD patients were younger and their daily levodopa dose was higher than the non-RBD group. Most of these patients developed RBD symptoms after the onset of clinical PD were younger at motor symptom onset and had higher scores in the hallucinations and psychosis subsection of MDS-UPDRS-I. RBD group had a more severe non-motor phenotype, including more ICD than those without RBD, mainly due to higher compulsive eating.Conclusions: In our study, most patients recognized RBD symptoms after the onset of the PD motor symptoms and the clinical features of PD with and without RBD were distinctive, supporting the hypothesis that PD-RBD might represent a variant pattern of neurodegeneration.
Background: Little is known about how people with Parkinson's conceptualize “ quality of life .” Objective: To describe the meaning of “ quality of life ” from the perspective of people with Parkinson's. Methods: Participants ( N = 42) were asked “What does the term ‘quality of life’ mean to you?” Definitions were analyzed using inductive qualitative methods. Results: Quality of life is captured in a framework illustrating how activities, experiences, and coping strategies generate positive feelings that collectively shape the mental state that defines quality of life. Conclusions: People with Parkinson's typically define what constitutes a good quality of life, with health status acting as an enabler (or barrier). Multiple factors, varying across individuals and potentially changing with circumstances, shape how people view their quality of life, and offer potential avenues for sustaining it. These personal, subjective and adaptive conceptualizations of quality of life should inform the design of interventions and measurement instruments.
The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype–phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14—recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. We searched PubMed and the Human Gene Mutation Database using standardized terms, including English-language, peer-reviewed publications up to February 2024. Following the MDSGene protocol, we extracted individual-level data on patients with biallelic pathogenic variants and at least one movement disorder. Features were marked “missing” if not explicitly reported. Of 1828 articles, 128 were eligible. We identified 386 patients and 262 variants. The median age at onset was 3 years for GLB1, 3 months for SLC6A3, 2.5 years for SLC30A10, 1.5 years for SLC39A14, and 16 years for PLA2G6. Missing data may reflect underreporting of negative findings. Case reports/serie, may bias toward atypical presentations. Our analysis showed dystonia-parkinsonism predominates in SLC6A3 and PLA2G6, while GLB1, SLC30A10, and SLC39A1 show predominantly dystonic phenotypes with a low frequency of parkinsonism. Ataxia was common in GLB1 and PLA2G6. Awareness of these phenotypes is essential for early diagnosis and intervention, particularly in treatable conditions like SLC30A10 or SLC39A14. The predominantly dystonic phenotype in GLB1, SLC30A10, and SLC39A14 suggest that the DYT prefix may be more appropriate, highlighting the need to reconsider their nomenclature, and the importance of systematic reviews.
Background: Many instruments are used to assess quality of life in people living with Parkinson's disease. However, there is limited understanding of what people living with Parkinson's consider relevant and important when measuring quality of life. Aim: To explore what people living with Parkinson's consider relevant and important in the assessment of quality of life. Methods: Semi-structured interviews were conducted with 31 people living with Parkinson's disease. Participants completed eight instruments, which were used to guide discussion and reflection on what helps and what hinders measuring quality of life in a way that is meaningful to them. Results: Participants highlighted a number of features they consider important in the assessment of quality of life. These include being able to select from a wide range of response options, addressing the personal, emotional, and practical impacts of issues, using clear, specific language, and including a balance of questions that address both positive and negative aspects of the Parkinson's experience. Conclusions: There is a need for instruments that reflect the complex and varied ways Parkinson's disease affects individuals. While existing questionnaires incorporate some features that support meaningful assessment, participants also identified features that may hinder the extent to which quality of life is adequately captured and that warrant further refinement. Incorporating feedback from people with lived experience may help inform future evaluation and refinement of quality of life measures in research and care.