Movement Disorders Clinical Practice最新文献

Background: Deep brain stimulation (DBS) is an established treatment for Parkinson's disease (PD) in appropriately selected patients. DBS may be underused in certain patient populations, especially women and racialized groups. Barriers and biases to receiving DBS that could account for underuse among these groups are not well studied in Canada.

Objective: We aim to better characterize the disparities in gender, ethnicity and other demographic factors among patients referred for and receiving DBS.

Methods: We performed a retrospective chart review and phone survey of DBS patients treated at two Canadian centers and from Canada Open Parkinson Network (C-OPN). Gender, ethnicity, marital status, native language, birth country, urban versus rural residency, level of education, household income and mode of referral were studied.

Results: Among all participants, more men than women received DBS. Most patients (81.8-94.1%) in both referral and implanted groups were White. The gender and ethnicity of this cohort do not represent Canadian demographics. Patients referred and receiving surgery had higher educational level compared with general Canadian population. Being married was positively associated with DBS referral and implantation.

Conclusion: Significant ethnic and gender disparities in receiving DBS exist. Educated White men were overrepresented. Further actions need to be taken to expand the accessibility of this important treatment to all eligible PD patients with an effort to provide equitable care to women, racialized groups and those who cannot advocate for themselves in Canada.

Background: Awareness and major external events can contribute to the number of FMD cases.

Objective: To analyze trends in new Functional Movement Disorders (FMD) consultations and the impact of the COVID-19 pandemic.

Methods: Retrospective analysis of FMD new consultations (2014-2024) at a tertiary movement disorders clinic. Trends and the COVID-19 impact were analyzed with linear and segmented regression. Patient characteristics in the pre- and post-pandemic periods were compared.

Results: Among 14,587 new consultations, 162 were FMD (79% female, mean age at onset 44.7 ± 18.3 years). FMD consultations increased slowly over time, with a marked surge after 2021. The significant rise was observed during the three years post-pandemic, followed by a return to the pre-pandemic slope. Pre and post-pandemic groups' characteristics were almost similar.

Conclusions: FMD consultations increased over time and significantly after the COVID-19 pandemic. This underscores the influence of increased awareness and external factors.

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.