Boala Parkinson și tulburări de mișcare.
64 de articoleParkinson'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.
This matched case-control study of 116 Parkinson's disease patients with osteoporotic vertebral fractures and 349 matched controls found that PD is associated with a 2.35-fold higher risk of total fractures and nearly threefold higher upper-thoracic vertebral fractures (T1-T10). Non-vertebral fractures were also significantly more common in PD patients, particularly at the hip, distal radius/ulna, and ribs, suggesting increased fall risk and skeletal fragility beyond bone mineral density reduction.
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 study examined whether gut bacterial tyrosine decarboxylase (TDC), which metabolizes levodopa, is associated with motor complications in 178 Parkinson's disease patients. While patients with dyskinesia and motor fluctuations showed 2-3 fold higher fecal TDC levels, differences were not statistically significant, suggesting a potential but unproven relationship between microbiota-derived enzymes and treatment response variability.
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.