Boala Parkinson și tulburări de mișcare.
64 de articoleThis multicenter study investigates the co-occurrence of functional movement disorders alongside Parkinson's disease diagnosis. The research provides descriptive clinical data on how these movement conditions present together, contributing to understanding of complex neurological presentations in affected populations.
A study of 4,600 Italian patients with Parkinson's disease or atypical parkinsonism identified 20 new carriers of the RAB32 p.Ser71Arg variant, which was associated with earlier disease onset (average 51 years) and good response to dopaminergic therapy. Carriers showed positive family history in 55.5% of cases, suggesting dominant inheritance patterns, with generally preserved cognitive function and mild psychiatric symptoms.
This expert consensus document provides evidence-based clinical guidance on screening, diagnosis, and treatment of gastrointestinal dysfunction in Parkinson disease, a common non-motor symptom that can precede motor symptoms and significantly impact quality of life. Recommendations are organized by anatomical segments (oral cavity, esophagus, stomach, small intestine, colon) based on a modified Delphi panel approach involving movement disorder neurologists and gastroenterologists.
Epidemiological and animal evidence indicates methamphetamine use significantly increases risk for Parkinson's disease and parkinsonism, potentially with earlier onset. Despite elevated prevalence in methamphetamine users, diagnosis is often missed due to under-detection, competing mortality risks, and confounding substance use patterns; clinicians should maintain vigilance for parkinsonian symptoms in this population.
This review addresses the lack of consensus definition for advanced Parkinson's disease by synthesizing clinical features (motor fluctuations, falls, cognitive decline), pathological burden markers, and neuroimaging findings associated with disease progression. The authors propose a longitudinal assessment model incorporating clinical markers and quality-of-life metrics to better characterize and predict disease trajectory in PD patients.
Cold temperatures are known to increase tremor severity in Parkinson's disease patients, likely due to temperature sensitivity affecting basal ganglia motor control. This seasonal effect is a recognized clinical observation that patients and caregivers should monitor and manage accordingly.
This literature review examines how machine learning techniques, particularly support vector machines and neural networks, can improve early diagnosis and progression prediction in Parkinson's disease by analyzing diverse biomarker data. The analysis demonstrates that more sophisticated machine learning approaches and ensemble models achieve higher diagnostic accuracy than simpler methods, suggesting significant potential for enhancing diagnostic capacity in movement disorders.
This large population-based cohort study of 355,890 participants followed for 13 years examined whether chronic musculoskeletal pain increases the risk of developing Parkinson's disease and related parkinsonism disorders. Results showed a dose-response relationship: participants with more widespread chronic pain sites had progressively higher risks of incident Parkinson's disease (11-49% increased risk depending on pain extent), though the mechanisms underlying this association remain unclear.
This study examines NT-proBNP levels as a potential biomarker for identifying cardiovascular autonomic dysfunction in Parkinson's disease patients. Elevated NT-proBNP was significantly associated with orthostatic hypotension and abnormal autonomic function tests, suggesting it may serve as an early indicator of cardiac autonomic denervation in PD.
Parkinson's disease has a complex genetic architecture including five autosomal dominant forms, three recessive types, and multiple genetic risk factors such as SNCA and GBA1 variants, with approximately 15% of cases attributable to known genetic causes. Recent advances have enabled gene-targeted clinical trials and incorporation of genetic findings into a new biological classification system for Parkinson's disease.
This systematic literature review (1988–2024) evaluated the validity of the 2015 International Parkinson and Movement Disorder Society diagnostic criteria using pathologically-confirmed PD cases, identifying which supportive criteria and red flags best distinguish PD from atypical parkinsonian disorders. The study found that excellent levodopa response and rest tremor were most useful for PD diagnosis, though some red flags (supranuclear gaze palsy, rapid gait progression, bilateral symptoms) occurred in >5% of confirmed PD cases, suggesting potential criteria refinement.
A study of over 18,500 PD patients identified pathogenic or likely pathogenic GRN variants in 24 patients (0.13%), suggesting that GRN-associated frontotemporal dementia can clinically mimic Parkinson's disease. The findings recommend comprehensive genetic testing including GRN analysis for patients with parkinsonism to improve diagnostic accuracy and inform treatment decisions.
This cross-sectional study of 119 Parkinson's disease patients found yawning-triggered tremor (YRT) significantly more prevalent in PD (18.5%) than controls (2.7%), with notably higher rates in patients with concurrent essential tremor (41.2%) or REM sleep behavior disorder (68.2%). In approximately one-third of cases, YRT preceded motor symptom onset by ~21 months, suggesting it may serve as an early neurodegeneration marker reflecting shared brainstem pathophysiology.
Drug-induced parkinsonism (DIP) is a common adverse effect of dopamine receptor-blocking agents that mimics idiopathic Parkinson's disease but requires prior exposure to triggering medications for diagnosis. Management involves discontinuing or reducing the offending agent, considering alternative medications with lower DIP risk, and using L-dopa when necessary, with ancillary testing like DaT scans helping distinguish DIP from prodromal Parkinson's disease.
This study compared immune cell profiles in individuals with drug-induced Parkinsonism (DIP) and idiopathic Parkinson's disease (PD) using UK Biobank data, finding that both conditions showed elevated neutrophil counts and immune inflammation markers approximately 9 years before diagnosis. However, immune alterations in DIP were attributable to psychiatric comorbidities, while reduced lymphocyte counts appeared to be a distinctive prodromal biomarker specific to PD.
This systematic review of 93 studies examined whether inertial measurement units (IMUs) can accurately quantify Parkinson's disease motor severity by correlating gait parameters with established clinical scales (MDS-UPDRS III, Hoehn and Yahr). Meta-analysis findings confirm that objective gait metrics including reduced velocity, shorter step length, prolonged stance time, and decreased turning speed reliably reflect disease severity and progression stages.