Movement Disorders Clinical Practice最新文献

Background: The global burden of dementia is increasing, particularly in low- and middle-income countries. Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia but remains underreported and frequently misdiagnosed. Its prevalence in Latin America is largely unknown.

Objective: The aim was to determine the frequency of DLB in a large memory clinic in Colombia and compare its clinical presentation with other neurodegenerative conditions, including Alzheimer's disease, frontotemporal dementia (FTD), vascular dementia, and Parkinson's disease dementia (PDD).

Methods: We conducted a retrospective study at a referral memory clinic in Bogotá, Colombia, from January 2018 to December 2022. DLB was identified based on the Fourth Consensus Report criteria. Random samples of patients with other neurodegenerative conditions were selected for comparison, maintaining a maximum ratio of 4:1. Clinical assessments were conducted by an interdisciplinary team using validated neurocognitive, neuropsychiatric, neuropsychological, and functional tools. Imaging and biofluid biomarkers were not available.

Results: Of 5518 patients, 38 (0.6%) were diagnosed with DLB. These individuals were predominantly male, with an average age of 72.3 years. Significant differences were observed between groups in age of onset, motor and cognitive function, and neuropsychiatric symptoms. Hallucinations were more common in DLB and PDD, whereas behavioral disturbances were frequent in FTD and DLB. Core symptoms of DLB were also present in patients diagnosed with other conditions, although cognitive fluctuations were not registered.

Conclusions: DLB is likely underdiagnosed in this setting. Improved recognition and management are essential.

Background: Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.

Cases: We present 2 cases of Partington syndrome featuring Aristaless-related homeobox (ARX) gene mutations, hand dystonia, and other clinical signs. Various drug treatments were attempted, including levodopa (l-dopa), trihexyphenidyl, tetrabenazine, and benzodiazepines, as well as botulinum toxin. Additionally, a blinded dystonia protocol was used to assess l-dopa's efficacy in 1 patient, which confirmed only mild benefit.

Literature review: Through a systematic review of the literature, we found that only l-dopa and baclofen might result in mild improvement, whereas propranolol, gabapentin, and haloperidol were reported as ineffective. The descriptions in those studies were, however, imprecise and the improvement rather mild, hindering definitive conclusions about their effectiveness.

Conclusions: Treatment options in Partington syndrome-associated dystonia remain elusive. Further research and additional case studies are needed to fully characterize the clinical features of Partington syndrome and to identify effective treatments.

Background: Parkinson's disease (PD) often involves motor fluctuations and dyskinesia, which are difficult to manage with medication alone. Conventional deep brain stimulation (cDBS) effectively alleviates symptoms but has limitations, including the challenge of balancing therapeutic effects against potential side effects, as well as limited battery life. To address these issues, adaptive DBS (aDBS) systems, which dynamically adjust stimulation parameters based on real-time physiological feedback, have attracted growing interest.

Objectives: The aim of this study was to assess the efficacy, tolerability, and safety of aDBS in patients with advanced PD over a 1-year period, using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and Parkinson's Disease Questionnaire-39 (PDQ-39).

Methods: This prospective, single-arm study involved 19 patients who transitioned from cDBS to aDBS. Baseline assessments were conducted under cDBS, and patients were re-evaluated 1 year after switching to aDBS.

Results: Sixteen patients completed 1 year of aDBS. Significant improvements in motor function, as measured by MDS-UPDRS Part III scores in the medication-off/stimulation-on condition, were observed. Patients with severe baseline wearing-off showed greater reductions in motor fluctuation (MDS-UPDRS Part IV) scores. Younger patients showed better quality of life (PDQ-39) and activity of daily living (MDS-UPDRS Part II) scores, though overall changes were not statistically significant.

Conclusions: aDBS shows promise in managing motor symptoms in PD, particularly in patients with pronounced wearing-off and younger patients, by dynamically adjusting stimulation parameters. Although further optimization and long-term studies are necessary, these findings underscore the potential of aDBS to offer personalized treatment options for advanced PD.

Background: Continuous subcutaneous foslevodopa/foscarbidopa infusion (CSFLI) is a novel non-surgical alternative to levodopa/carbidopa intestinal gel (LCIG) for advanced Parkinson's disease (aPD), but real-world switch data remain limited.

Objectives: To describe the feasibility, safety, and clinical effects of switching from LCIG to CSFLI.

Methods: We retrospectively reviewed eight aPD patients switched from LCIG to CSFLI at a single center between November 2024 and May 2025. Motor and non-motor symptoms, quality of life, and levodopa equivalent daily doses were assessed at baseline (M0) and six months (M6).

Results: Small but significant improvements occurred in UPDRS part I, III, and IV and PDQ-8 scores at M6. Total LEDD remained stable. CSFLI was well tolerated with mild local skin reactions.

Conclusion: Switching from LCIG to CSFLI is feasible and safe, providing stable dopaminergic delivery with modest symptomatic benefits in selected aPD patients.