Movement Disorders Clinical Practice最新文献

Background: The gut-brain axis, i.e. the bidirectional communication system between the gut and the brain, has become of central importance in Parkinson disease (PD) research over the past 20 years.

Aims: We aimed to describe the milestones of the gut-brain axis research in PD and the development of theories proposing the involvement of the gastrointestinal tract in PD pathogenesis.

Methods: We searched PubMed using the terms 'gut-brain axis' AND 'Parkinson disease', and selected relevant articles to provide the foundation for reconstructing an historical overview of the gut-brain axis research in PD.

Results: Mounting evidence from preclinical, clinical and post-mortem studies suggests that a subgroup of PD patients present with a range of prodromal symptoms (e.g., autonomic dysfunction, rapid eye movement sleep behaviour disorder) which reflect initial accumulation and later spread of pathological α-synuclein rostrally from the gastrointestinal tract ("body-first" PD). Through neural connections along the gut-brain axis, pathological α-synuclein may spread to the brain, producing clinically manifest disease. Recently, two mechanisms involving the gut-brain axis have attracted increasing attention for their role in PD pathogenesis and progression, namely the perturbation of the composition of the microorganisms living in the gut (the gut microbiome), and the dysfunction of enteroendocrine cells.

Conclusion: Treatments targeting the gut-brain axis, especially the gut microbiome and the enteroendocrine cells pathway, could potentially slow disease progression or even prevent disease onset. Among these, pre/probiotics, faecal microbiota transplantation, and glucagon-like peptide-1 receptor agonists, have entered advanced stages of clinical trials in humans and shown potential symptomatic and disease-modifying effects.

Background: Social workers (SW) are part of multidisciplinary teams for many surgical disciplines. Their role in deep brain stimulation (DBS) presurgical evaluations has not been defined.

Objectives: The goal was to characterize the role of SWs in a multidisciplinary DBS presurgical evaluation team and to construct a screening tool to identify patients who could benefit from a preoperative SW consultation.

Methods: A retrospective chart review was conducted on 100 consecutive patients.

Results: Ninety-seven subjects met with the SW. The median age was 68 years; 52% were female. Eight roles for the DBS SW were identified. The SW recommended follow-up for two subjects, and four additional subjects contacted the SW subsequently.

Conclusions: This study revealed how SWs could be integrated into DBS presurgical evaluations. Because most patients do not have specific SW needs, the mnemonic DBS-FACTS (finances, advance care planning, caregivers, transportation, and suicide risk) may identify patients who could benefit from SW consultation.

Background: Deep brain stimulation (DBS) of the bilateral subthalamic nuclei (STN) or globus pallidus internus (GPi) for Parkinson's disease (PD) and dystonia is known for its efficacy despite potential complications. Although acute complications such as intracranial hemorrhage and infections are documented, delayed occurrences like normal pressure hydrocephalus (NPH) post-DBS has not been reported so far.

Cases: We present a case series of seven PD patients (from 974) who developed NPH, an average of 10.9 + 3.1 years after DBS (6 STN, 1 GPi) with symptoms of cognitive decline and gait disturbances. Imaging confirmed hydrocephalus meeting NPH criteria (Radscale >4), which was further confirmed by the cerebrospinal fluid tap trial. Treatment with ventriculoperitoneal shunt placement showed significant symptom improvement.

Conclusion: Recognizing NPH in PD patients even after DBS is crucial for early intervention and improved outcomes.

Background: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is a well-established treatment for Parkinson's Disease (PD). However, the long-term trajectory of Quality of Life (QoL) following STN-DBS remains underexplored.

Objectives: We aimed to conduct a systematic review and meta-analysis to assess QoL trends up to five years after STN-DBS.

Methods: We systematically searched PubMed, Embase, and Cochrane databases from inception to August 2024 for studies involving PD patients treated with bilateral STN-DBS, evaluating QoL using the Parkinson's Disease Questionnaire (PDQ), with a minimum follow-up of 12 months post-surgery. Continuous outcomes were pooled using standardized mean differences (SMD), and statistical analyses were conducted using R version 4.3.2.

Results: Out of 4106 screened articles, 42 studies with a total of 2767 patients were included in the meta-analysis. QoL improvements were observed up to 36 months post-surgery (SMD 0.83; 95% CI 0.29 to 1.37), followed by a decline to pre-operative levels at 60 months (SMD -0.06; 95% CI -0.26 to 0.15). Subdomain analysis at 60 months revealed significant deterioration in cognitive function and communication. Meta-regression indicated that QoL improvements were independent of clinical and sociodemographic factors such as age, sex, and disease duration; however, there was a correlation with mean baseline PDQ (P = 0.01).

Conclusions: This meta-analysis provides long-term QoL trends following STN-DBS, highlighting a further need to explore the factors driving the decline in QoL and develop strategies to mitigate this deterioration.

Background: Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor-Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This report presents two Iranian families with ATP13A2 variants exhibiting atypical features of KRS.

Cases: We highlight four patients from two consanguineous Iranian families with mutations in the ATP13A2 gene presenting with variable features of motor neuron disease as well as juvenile-onset parkinsonism, and cognitive decline. The onset of symptoms ranged from 11 to 29 years, with initial manifestations including gait disturbance, postural instability, and cognitive impairment. As the disease progressed, patients developed a range of neurological signs, such as dystonia, spasticity, and dysarthria.

Conclusion: This report expands the phenotypic spectrum of ATP13A2-related disorders, highlighting the potential overlap of symptoms associated with KRS, ALS, and HSP.