Motor dysfunction, which includes changes in gait, balance, and/or functional mobility, is a lesser-known feature of Alzheimer\'s Disease (AD), especially as it relates to the development of neuropsychiatric symptoms (NPS). This study (1) compared rates of NPS between autopsy-confirmed AD patients with and without early-onset motor dysfunction and (2) compared rates of non-AD dementia autopsy pathology (Lewy Body disease, Frontotemporal Lobar degeneration) between these groups. This retrospective longitudinal cohort study utilized National Alzheimer\'s Coordinating Center (NACC) data. Participants (N = 856) were required to have moderate-to-severe autopsy-confirmed AD, Clinical Dementia Rating-Global scores of ≤1 at their index visit, and NPS and clinician-rated motor data. Early motor dysfunction was associated with significantly higher NPI-Q total scores (T = 4.48, p < .001) and higher odds of delusions (OR [95%CI]: 1.73 [1.02-2.96]), hallucinations (2.45 [1.35-4.56]), depression (1.51 [1.11-2.06]), irritability (1.50 [1.09-2.08]), apathy (1.70 [1.24-2.36]), anxiety (1.38 [1.01-1.90]), nighttime behaviors (1.98 [1.40-2.81]), and appetite/eating problems (1.56 [1.09-2.25]). Early motor dysfunction was also associated with higher Lewy Body disease pathology (1.41 [1.03-1.93]), but not Frontotemporal Lobar degeneration (1.10 [0.71-1.69]), on autopsy. Our results suggest that motor symptoms in early AD are associated with a higher number and severity of NPS, which may be partially explained by comorbid non-AD neuropathology.

UNASSIGNED: Spontaneous intracranial hypotension (SIH), a treatable condition that stems from spinal leakage of cerebrospinal fluid, usually presents with orthostatic headache, nausea, vomiting, dizziness, and tinnitus. A subset of patients, especially those with sagging of brain structures (\"brain sagging syndrome\"), develop several movement abnormalities. As SIH is treatable with epidural blood patch (EBP), movement disorders neurologists should be familiar with this syndrome.
UNASSIGNED: The authors performed a literature search in PubMed in July 2024 using the Boolean phrase- ((\"Brain sagging\")OR(\"Intracranial hypotension\"))AND((((((((((\"Movement disorders\")OR(\"Involuntary movements\"))OR(\"Tremor\"))OR(\"Dystonia\"))OR(\"Chorea\"))OR(\"Ballismus\"))OR(\"Myorhythmia\"))OR (\"Tic\"))OR(\"Ataxia\"))OR(\"Parkinsonism\")).
UNASSIGNED: We tabulated 21 case reports/series that highlighted the presence of movement disorders. The most reported phenomenology is gait unsteadiness. While it usually emerges in the background of the classic SIH symptoms, rarely, patients may present with isolated gait dysfunction. Tremor is the second most reported phenomenology with postural and kinetic tremor being the common subtypes. Holmes tremor has also been reported in SIH. Other reported phenomenologies are parkinsonism, chorea, and dystonia. One study reported a unique phenomenology i.e. compulsive repetitive flexion and breath holding in 35.3% of the patients. In majority of the patients, EBP resulted in substantial clinical and radiological improvement.
UNASSIGNED: Brain sagging syndrome due to SIH may present with a wide range of movement disorders. Mechanical distortion of the posterior fossa and subcortical structures result in the emergence of such movement abnormality. SIH adds to the list of conditions that result in \"treatable movement disorders.\" Therefore, movement disorders neurologists should be versed with the diagnosis and clinical features of this condition.

UNASSIGNED: To assess content and readability of online patient educational materials (PEMs) for paediatric deep brain stimulation (DBS) and intrathecal baclofen (ITB).
UNASSIGNED: A content analysis of PEMs identified from top children\'s hospitals, institutions affiliated with published neuromodulation research, and DBS and ITB device manufacturers was conducted. PEM content was analysed using a predetermined framework. Readability was assessed using the Simple Measure of Gobbledygook (SMOG).
UNASSIGNED: Of 109 PEMs (72 DBS; 37 ITB) identified, most (77 (71%)) originated in the United States. More ITB PEMs (27 (73%)) contained specific paediatric information than DBS PEMs (16 (22%)). PEMS more frequently described benefits (DBS: 92%; ITB: 89%) than risks (DBS: 49%; ITB: 78%). Frequent content included pre- and post-operative care, procedural details, and device information. Less common content included long-term lifestyle considerations, alternatives, patient experiences, and financial details. Median readability of PEMs was 13.2 (interquartile range [IQR]: 11.4-14.45) for DBS and 11.8 (IQR: 11-12.9) for ITB.
UNASSIGNED: Available ITB and DBS PEMs often miss important broader details of the treatments, and have additional shortcomings such as poor readability scores. Our findings highlight need for more holistic content within neuromodulation PEMs, improved accessibility, and more balanced representation of risks and benefits.
Neuromodulation patient education materials (PEMs) require more comprehensive information to address needs of families of children with movement disorders.There is a paucity of online PEMs for paediatric deep brain stimulation (DBS), and limited English-language neuromodulation information originating outside the USA.Neuromodulation PEMs do not meet readability standards and underutilise testimonials and audiovisual communication.Benefits of neuromodulation are described more frequently than risk information in PEMs.

暂无摘要。

Movement disorders of the stomatognathic system include oromandibular dystonia (OMD), oral dyskinesia, sleep/awake bruxism, functional (psychogenic) stomatognathic movement disorders (FSMDs), tremors, and hemimasticatory spasm (HMS). Most patients first consult dentists or oral surgeons. The differential diagnoses of these involuntary movements require both neurological and dental knowledge and experience, and some of these movement disorders are likely to be diagnosed as bruxism or temporomandibular disorders (TMDs) by dental professionals. However, excepting movement disorder specialists, neurologists may find it difficult to differentially diagnose these disorders. Patients may visit numerous medical and dental specialties for several years until a diagnosis is made. Therefore, movement disorders of the oral region may represent a blind spot between dentistry and medicine.The present narrative review aimed to describe the clinical characteristics and differential diagnoses of some movement disorders, as well as the problems bridging dentistry and medicine. Movement disorders have the following characteristic clinical features: OMD - task specificity, sensory tricks and the morning benefit; FSMDs - inconsistent and incongruous symptoms, spreading to multiple sites and the lack of sensory tricks; and HMS - the paroxysmal contraction of unilateral jaw-closing muscles, the persistence of symptoms during sleep and the loss of a silent period. A careful differential diagnosis is essential for the adequate and effective treatment of each involuntary movement. Refining the latest definition of bruxism may be necessary to prevent the misdiagnosis of involuntary movements as bruxism.Both dental and medical professionals should take an interest in the movement disorders of the stomatognathic system, and these disorders should be diagnosed and treated by a multidisciplinary team.

Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.Aim of this study was to identify cases of neonatal hyperekplexia with a confirmed genetic diagnosis and to establish the genotype-phenotype correlation at onset. Articles were selected from 1993 to 2024 and PRISMA Statement was applied including newborns within 28 days of life. So, we retrieved from literature 14 cases of genetically confirmed neonatal hyperekplexia. The onset of clinical manifestations occurred in the first day of life in 8 of 14 patients (57.14%). Clinical findings were muscle stiffness (100%), startle reflex (66.66%), apnea/cyanosis (41.66%), positive nose-tapping test (33.33%), jerks (33.33%), jitteriness (25%), and ictal blinking (25%). Genes involved were GLRA1 in 9 of 14 (64.28%), SLC6A5 in 2 of 14 (14.28%), GPHN in 1 of 14 (7.14%), and GLRB in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable.Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients.

Lower limb exoskeleton rehabilitation robots are used to improve or restore the walking and movement ability of people with lower limb movement disorders. However, the required functions for patients differ based on various diseases. For example, patients with weak muscle strength require power assistance, patients with spinal cord injuries require motion compensation, patients with gait abnormalities require gait correction, and patients with strokes require neural rehabilitation. To design a more targeted lower limb exoskeleton rehabilitation robot for different diseases, this article summarised and compared existing lower limb exoskeleton rehabilitation robots according to their main functions and the characteristics and rehabilitation needs of various lower limb movement disorders. The correlations between the functions of existing devices and diseases were summarised to provide certain references for the development of new lower limb exoskeleton rehabilitation robots.
下肢外骨骼康复机器人应用于下肢运动功能障碍人群，使患者能够通过机器恢复或改善行走和运动能力。但是，基于不同疾病，患者所需求的功能是不同的，比如肌力不足的患者需要增强助力，脊髓损伤患者需要运动代偿，步态异常患者需要步态矫正，脑卒中患者需要神经康复。为了设计对疾病更有针对性的下肢外骨骼康复机器人，本文根据各类下肢功能障碍的特点与康复需求，按照设备所提供的主要功能，对现有的下肢外骨骼康复机器人进行汇总和分析比较，总结现有设备的功能与疾病的相关性，为研究设计新型下肢外骨骼康复机器人提供一定参考。.

Essential tremor (ET) is the most common movement disorder globally and has negative impacts on quality of life. While medical treatments exist, approximately 50% of patients have tremor that is refractory to medication or experience intolerable medication side effects. Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is an option for these patients and while incisionless, it is still invasive, although less so than other surgical treatments such as deep brain stimulation and radiofrequency thalamotomy. Despite MRgFUS being FDA-approved since 2016, there is still no current consensus on the best approaches for targeting, imaging, and outcome measurement. A 2-day workshop held by the Focused Ultrasound Foundation in September of 2023 convened experts and critical stakeholders in the field to share their knowledge and experiences. The goals of the workshop were to determine the optimal target location within the thalamus and compare best practices for localizing the target and tracking patient outcomes. This paper summarizes the current landscape, important questions, and discussions that will help direct future treatments to improve patient care and outcomes.

暂无摘要。

Parkinson\'s Disease is a neurodegenerative disorder manifesting itself as a hypokinetic movement impairment with postural instability and gait disturbance. In case of failure and/or limited response, deep brain stimulation has been established as an alternative and effective treatment modality. However, a subset of PD patients with gait impairment represents a therapeutic challenge. A systematic review (2000-2023) was performed using PubMed, Embase, Web of Science, Scopus, and Cochrane Library databases to determine the efficacy, stimulation waveform/parameters, spine level, and outcome measures of spinal cord stimulation using different waveforms in PD patients with and without chronic pain. Spinal cord stimulation responsiveness was assessed within the pre-defined follow-up period in three groups (short-term follow-up = 0-3 months; intermediate follow-up = 3-12 months; and long-term follow-up = more than 12 months). In addition, we briefly outline alternative neurostimulation therapies and the most recent developments in closed-loop spinal cord stimulation relevant to PD. In summary, 18 publications and 70 patients from uncontrolled observational trials were included, with low-quality evidence and conflicting findings. First and foremost, the currently available data do not support the use of spinal cord stimulation to treat PD-related gait disorders but have confirmed its usefulness for PD-associated chronic pain.