Movement Disorders Clinical Practice最新文献

Background: Head tremor poses diagnostic problems, especially when present as an isolated or predominant symptom.

Objectives: To assess how maneuvers activating upper limb postural tremor can help differentiate head tremor in essential tremor (ET) from dystonic tremor (DT) in cervical dystonia.

Methods: 48 patients with head tremor (25 ET, 23 DT), underwent clinical examination and accelerometric evaluation of head and upper limb tremor during routine tremor-inducing tasks.

Results: While accelerometric power and clinical scores of head tremor did not significantly differ between patient groups, task-induced variations revealed distinctions. ET patients exhibited increased head tremor power and clinical scores during forward outstretched and lateral wing-beating arm positions, unlike DT patients. Coherence between head and upper limb tremor remained consistent. Tremor stability index showed no significant differences.

Conclusions: Task-induced changes in head tremor could aid in distinguishing between ET and DT. Further research is needed to refine diagnostic approaches for head tremor.

Background: Persons with Parkinson's disease (PD) experience progressive motor and non-motor symptoms which may influence their ability to drive a car. This is experienced as a massive challenge by many affected individuals, for whom being able to drive a car is vital to maintain functional independence.

Objectives: We assessed how the diagnosis of PD affected the possession of a driving license, how people with PD had adapted their driving style, and to what extent they had communicated about their driving ability with their healthcare professionals. We also evaluated their knowledge on insurance- and Driver and Vehicle Licensing Agency (DVLA)-related implications.

Method: A cross-sectional 10-item survey was completed by 540 participants of a population-based cohort of persons with PD in the Netherlands (PRIME-NL study).

Results: Participants had a mean age of 70 years and disease duration of 7.3 years. 84% possessed a valid driving license. Of those who gave up their license, this was done mostly (78%) on a voluntarily basis. Forty percent of those with a driving license adjusted their driving style. Over 50% of respondents had not discussed the impact of PD on their driving ability with their healthcare professionals. Although not compulsory by Dutch law, 52% of the respondents had informed the DVLA about their diagnosis.

Conclusion: This study highlights the need for information and support from healthcare professionals to proactively address driving in their clinical practice. This will help persons with PD in their efforts to maintain their driving license for as long as possible.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing. The study used the InDelible structural variants calling pipeline and conducted molecular dynamic simulations on variants of uncertain significance (VUS) in ATP7B AlphaFold protein structures. Additionally, a high-throughput gene screening panel for WD was developed.

Results: This study examined 128 clinically diagnosed cases of WD, revealing 74 genetically confirmed cases, 22 with ATP7B variants, and 32 without. Twenty-two novel ATP7B gene variants were identified, including a 322 bp deletion classified as a structural variant. Molecular dynamics simulations highlighted the potential deleterious effects of 11 ATP7B VUS. Gene burden analysis suggested associations with ANO8, LGR4, and CDC7. ATP7B gene hotspots for pathogenic variants were identified. Prevalence and carrier rates were determined as one in 18,678 and one in 67, respectively. A multiplex sequencing panel showed promise for accurate WD diagnosis.

Conclusions: This study offers crucial insights into WD's genetic variations and prevalence in India, addressing its underdiagnosis. It highlights the novel genetic variants in the ATP7B gene, the involvement of other genes, a scalable, cost-effective multiplex sequencing panel for WD diagnosis and management and promising advancements in WD care.

Background: Deep Brain Stimulation (DBS) has been demonstrated to improve quality of life in patients with refractory dystonia and Tourette's syndrome (TS). Because of the young age at onset of these disorders, and the marked benefit from DBS, pregnancy in patients who have received DBS is becoming a more frequent clinical occurrence, although clear management guidelines are lacking.

Cases: We report 14 new pregnancies in patients with dystonia or TS and DBS.

Literature review: Upon review of the literature, 23 pregnancies in patients with dystonia or TS were previously reported in seven articles.

Conclusion: Based on the available data from a total of 37 pregnancies, DBS does not seem associated with worse pregnancy outcome. However, careful planning and communication between neurologist, anesthesiologist and obstetrician are key. A registry on pregnancy outcome in patients with DBS should be generated to facilitate the development of guidelines.

Background: Tremor in Parkinson's disease (PD) is commonly regarded as less responsive to levodopa than bradykinesia and rigidity, with levodopa-resistant PD tremor considered relatively common.

Objective: The aim was to assess the levodopa responsiveness of tremor, bradykinesia, and rigidity in a population with advanced PD.

Methods: We performed a retrospective study of 526 people with PD screened for deep brain stimulation.

Results: Levodopa's Cohen's d effect sizes were in the same order of magnitude for the 3 cardinal motor symptoms. Proportional improvement in tremor (86.8%) was higher than bradykinesia (45.7%) and rigidity (67.0%) (P < 0.0001). Full resolution was more frequent for tremor (67.9%) than for bradykinesia (0.4%) or rigidity (24.8%) (P < 0.0001). Levodopa-unresponsive tremor, defined as improvement less than 25%, was documented only in 4.0%, as opposed to 19.4% for bradykinesia and 9.8% for rigidity (P < 0.0001).

Conclusions: In advanced PD, tremor was more responsive to levodopa than bradykinesia and rigidity, and levodopa-unresponsive tremor was relatively rare.