Movement Disorders Clinical Practice最新文献

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.

Background: Although there are established guidelines for the selection of suitable candidates, objective and timely referral for the use of apomorphine remains challenging.

Objectives: This research examined how telemonitoring may facilitate referrals for continuous subcutaneous apomorphine infusion in Parkinson's disease (PD).

Methods: A Blind Rater and a multi-disciplinary team (MDT) including an expert PD nurse, neurologist, and geriatrician determined apomorphine pump treatment eligibility for 20 patients with PD. The MDT considered telemonitoring data and physical examination to determine eligibility. The Blind Rater used only telemonitoring data (PDMonitor®) to evaluate eligibility.

Results: The results show that using wearable sensors to determine appropriateness of apomorphine pump treatment is similar to a complete method that combines objective motor symptom monitoring with clinical evaluation. The MDT and blind rater had a 0.89 Cohen's kappa coefficient, which suggests high rate of agreement. The best-performing objective metric for differentiating patients who were recommended (APO) from those non-recommended (non-APO) for apomorphine pump therapy, was the device-reported percentage of time in the "ON" state, which takes into consideration the "OFF" and dyskinesia time. The APO group had lower values in this metric and could be differentiated from the non-APO group accurately (85%).

Conclusions: Using telemonitoring to determine eligibility for apomorphine therapy might improve evaluation and treatment in patients with PD and, therefore help improve their quality of life.