Movement Disorders Clinical Practice最新文献

Background: Essential tremor is the most common hyperkinetic movement disorder. Magnetic resonance imaging-guided focused ultrasound (MRgFUS) has emerged as second-line therapy.

Objective: The aim was to obtain the results of the first 108 patients treated with MRgFUS in Denmark.

Methods: Data were entered in a quality assurance database at baseline and 3, 6, and 12 months. Clinician- and patient-rated treatment efficacy was evaluated using the Fahn-Marin-Tolosa (FMT) scale and the Patient Global Impression of Change.

Results: A total of 108 persons have currently been treated. Tremor improved by a total mean 6.39 points (95% confidence interval [CI]: 5.01;7.76, P < 0.00001) and 9.63 points (95% CI: 7.60;11.66, P < 0.00001), 10.42 (95% CI: 9.06;11.79, P < 0.00001), and 26.45 (95% CI: 22.46;30.43, P < 0.00001) for FMT parts A, B, and C, respectively, at 3 months. Side effects occurred in 65.7% of patients at 3 months and 33.7% at 12 months.

Conclusion: Our findings are in line with existing evidence. Questions regarding persistence of gait- and balance-related side effects remain.

Background: Managing multiple system atrophy (MSA) is challenging. While invasive interventions for amyotrophic lateral sclerosis are well-studied, those for MSA remain less explored.

Objectives: To explore factors influencing treatment choices and trends in advanced-stage MSA.

Methods: A retrospective cohort study analyzed 128 MSA patients at Hyogo Chuo National Hospital, Japan, from 2000 to 2024, focusing on treatment period and age at onset.

Results: Tracheostomy invasive ventilation (TIV) decreased after 2014 (26.9% vs. 9.2%; P = 0.023). TIV-treated patients remained similarly young before and after 2014 (age at onset 52.7 vs. 54.5 years; P = 0.659) and tracheostomy was chosen by younger patients after 2014 (58.3 vs. 51.5 years; P < 0.001). Conversely, enteral nutrition increased in older patients (57.4 vs. 62.9 years; P = 0.011).

Conclusions: In Japanese MSA, preferences for invasive treatments shifted, with younger patients favoring TIV and tracheostomy, while older patients preferred less invasive options, emphasizing personalized care.

Background: Hereditary cerebellar ataxia (HCA) represents a complex group of disorders, with a wide spectrum of neurological symptoms. Among these, non-ataxia movement disorders (MD) have been increasingly acknowledged, with variable frequency across different forms.

Objectives: To characterize the type and frequency of MD in patients with HCA. To identify factors associated with MD and analyze their impact on disability.

Methods: We conducted a prospective study starting in 2017, with annual visits according to a structured protocol. Patients were selected from the study database and their clinical and genetic features analyzed.

Results: The cohort comprised 193 symptomatic patients. Machado-Joseph disease (MJD, also SCA3 or ATX-ATXN3) and cerebellar ataxia, neuropathy and vestibular areflexia syndrome (ATX-RFC1) were the most common autosomal dominant (AD) or recessive forms, with a frequency of 14.0% and 15.0%, respectively. MD were present in 95 (54.4%), with dystonia being the most common (49.2%). Tremor was identified in 10.9%, Parkinsonism in 4.1% and chorea in 3.6% patients. Myoclonus and tics were rare (2.6% and 0.5%). The presence of MD was associated with AD inheritance and ATXN3. MD, regardless of type, correlated with higher SARA score at baseline, increased fall frequency, confinement to wheelchair, and earlier occurrence of falls and of permanent use of walking aid.

Conclusions: Movement disorders, particularly dystonia, were common in our cohort. This highlights the possible role of the cerebellum in MD, but also extra-cerebellar involvement in some HCA. Presence of MD significantly worsened motor disability, highlighting the need for strategies of early identification and tailored management.