Movement Disorders Clinical Practice最新文献

Background: Huntington's Disease-like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.

Objectives: To characterize HD and HDL2 patients in Martinique.

Methods: We retrospectively analyzed all HD and HDL2 patients evaluated over 20 years at a single neurology center in Martinique, collecting longitudinal clinical features, UHDRS scores, and repeat lengths.

Results: In Martinique, combined HD and HDL2 minimum prevalence was 7.77/100,000. We ascertained 24 HD individuals, from 16 pedigrees, and 18 HDL2 individuals, from two pedigrees, one being the most extensive HDL2 pedigree yet reported. Because most HDL2 patients belong to a single large pedigree, the data must be interpreted with caution as familial clustering may introduce bias. HDL2 cases were predominantly male (83% vs. 45% in HD). Motor symptoms were the most frequent initial manifestation in both. Repeat length negatively correlated with estimated onset age in both diseases. Longitudinal motor (UHDRS-TMS) and functional capacity (UHDRS-TFC) scores in HDL2 revealed progressive worsening similar to HD. Inter- and intra-familial clinical and genetic heterogeneity was obvious in both diseases. Anticipation was not exclusively reserved to paternal transmissions in HDL2.

Conclusions: HDL2 is nearly as prevalent as HD in Martinique. The study reinforces the similarities between HD and HDL2 in genotype-phenotype correlation and disease course, while highlighting heterogeneity and germline instability in HDL2. Interpretation is limited by the small number of HDL2 families.

Background: In modern medicine the concept of wellness is often accompanied by various misconceptions arising from several factors, including a lack of clear definitions, the commercialization of wellness, and prevailing biases and stereotypes.

Method: Although wellness has been successfully integrated into the management of conditions like cardiovascular disease, diabetes, and cancer, it has yet to be widely applied in the field of neurology. The World Federation of Neurology, American Academy of Neurology, European Academy of Neurology, and the World Health Organization (WHO) have adopted a formal definition of brain health that emphasizes the proactive role of lifestyle choices in modifying outcomes for neurological diseases, which closely aligns with the wellness approach. This shift has been further reinforced by WHO's adoption of the Intersectoral Global Action Plan on epilepsy and other neurological disorders (2022-2031), which seeks to improve access to treatment and care while promoting brain health across the lifespan. The global push for brain health highlights the need for a structured approach to wellness in neurological conditions such as Parkinson's disease (PD).

Results/conclusion: This critical review, conducted by a multidisciplinary task force commissioned by the International Parkinson and Movement Disorder Society, aims to provide the current evidence base on wellness in PD, identify existing gaps in knowledge, and propose a framework to integrate wellness into the holistic care of individuals with PD.

Background: The pathophysiology of idiopathic normal pressure hydrocephalus (iNPH) remains poorly understood. While it is commonly accepted that iNPH has an insidious onset, little is known about its preclinical and early stages and its development over time.

Objectives: To gain more insight into how iNPH becomes manifest clinically and radiologically, and how its major clinical symptoms evolve in non-shunted patients.

Methods: For this critical review a literature search was performed using specific search terms concerning the evolution of iNPH. Manuscripts were categorized according to their content providing information on different domains including the early manifestation of clinical features, the evolution of the three major clinical symptoms, and the development of radiological findings.

Results: Gait disturbance in general, is the earliest clinical symptom of iNPH. There is a gradual but variable decline within the first years resulting in a change of phenotype. Cognitive impairment varies widely depending on co-morbidities. Urinary dysfunction evolves from urinary urgency to incontinence. Radiological features of iNPH such as ventricular enlargement, enlarged subarachnoid spaces, and flattening of sulci at the parasagittal high convexity are present in the preclinical stage of iNPH, but the sequence of their appearance remains unclear as well as the impact of white matter lesions.

Conclusions: The evolution of iNPH shows remarkable heterogeneity. While there is a need to define distinct clinical stages, it is also important to better identify the preclinical stages of iNPH. Assessment of treatment outcomes needs to consider the stage of the disease at the time of intervention.

Background: Infection-related movement disorders (IRMD) represent an important group of secondary movement disorders whose prevalence, patterns, treatment and outcomes remain poorly understood.

Objectives: To survey members of the International Parkinson and Movement Disorder Society regarding prevailing practices in IRMD.

Methods: A cross-sectional online survey was conducted.

Results: Of 95 responses received, 75 (78.9%) were from the Asia-Oceania (AO) region and were further analyzed. The highest number of responses was from India (67/75, 89.3%). The most frequent phenotypes included ataxia (64, 85.3%), chorea (49, 65.3%), myoclonus (55, 73.3%) and parkinsonism (43, 57.3%). Tuberculosis-related (61, 81.3%), subacute sclerosing panencephalitis (50, 66.7%), and dengue-related movement disorders (49, 65.3%) were most frequent. Variable outcomes were observed by 46 (61.3%) respondents and 66 (88%) indicated that up to 50% of patients experienced persistence of IRMD.

Conclusions: This survey provides critical insights into prevailing practices in the field of IRMD from the AO region.

Background: Essential tremor (ET) is associated with various of non-motor symptoms including hearing impairment and imbalance attributed to the neurodegenerative ET pathology affecting brainstem structures.

Objective: This study aimed to assess auditory and vestibular brainstem functions in patients with ET in comparison to controls using auditory brainstem responses (ABR) and cervical and ocular vestibular-evoked myogenic potentials (cVEMP and oVEMP), and to correlate their dysfunction to disease characteristics.

Methods: 24 patients (48 ears) with ET and 24 healthy controls were recruited and assessed by ABR, cVEMP and oVEMP. Patients were assessed by Fahn-Tolosa-Marin Tremor Rating Scale (FTM-TRS) and functional gait assessment scale.

Results: High-rate ABR showed significant increase of waves III and V latencies and I-V interpeak latencies among patients, compared to age and gender matched controls. Low-rate ABR showed less significant differences; right, I-III and I-V interpeak latencies, and average I-III interlatences. ET patients showed prolonged latencies of P1 and N1 waves of cVEMP (P = 0.007 and P = 0.003), average P1-N1 latency and amplitude differences (P < 0.001) and P1 latency of oVEMP (P = 0.009), compared to controls, with more differences in cVEMP than in oVEMP. Age, age of onset, disease duration showed correlations with ABR responses, tremor severity correlated with oVEMP, while functional gait scores correlated with both.

Conclusion: The study confirmed and localized the dysfunction of the auditory and vestibular brainstem connections in ET and demonstrated a possible correlation with tremor severity and associated gait dysfunction.

Background: Research on Parkinson's disease (PD) heterogeneity may inform clinical prognosis. There is currently no fully validated PD subtype classification system.

Objectives: We aimed at assessing the prognostic relevance of a data-driven PD subtype classification system.

Methods: To identify PD subtypes, we conducted cluster analyses in the Longitudinal and Biomarker Studies in Parkinson's Disease study (LABS-PD) cohort including 461 PD patients enrolled within 2 years of diagnosis and followed for at least 5 years. We determined the association of each PD subtype with the mean changes in the Schwab & England Activities of Daily Living (SE-ADL) and Parkinson's Disease Questionnaire-39 (PDQ-39). We evaluated the association of each PD subtype with the death rate and time to death, after mortality ascertainment using the National Death Index database and review of records at study sites.

Results: We identified three subtypes: Tremor Predominant, Motor Complications, and Rapid Progression. Over 2 years, the change of SE-ADL score for the "Motor Complications" subtype (-4.26, 95% CI: -6.60, -1.91) was worse compared to the "Tremor Predominant" subtype (0.43, 95% CI: -1.35, 2.22). The adjusted death rate was lower for the "Tremor Predominant" subtype compared to the "Motor Complications" subtype (HR [time to death]: 0.27, 95% CI: 0.14, 0.52).

Conclusions: PD subtypes generated in LABS-PD cohort have prognostic value, for short-term functional ability and long-term survival. Membership in the "Tremor Predominant" subtype 5 years after PD diagnosis was associated with preserved functional ability and longer survival compared to the "Motor Complications" subtype.

Comprehensive management of Parkinson's disease (PD) symptoms should include addressing both motor and nonmotor symptoms (NMS). Gastrointestinal (GI) manifestations are the most common NMS in PD and can lead to significant impairment in quality of life (QoL), impaired medication absorption, and response to treatment. Therefore, the approach to managing GI symptoms in PD ideally should emphasize interdisciplinary collaboration, bringing together experts across several disciplines to provide cohesive and comprehensive treatment. Our teams at Oregon Health & Science University (OHSU) and University of Florida (UF) have developed a novel approach to incorporating gastroenterology and allied services to the delivery of neurologic care in our "PDGI clinic." In this review, we provide recommendations on how to establish an interdisciplinary clinic for the care of patients with PD (PwPD) based on our experience, including team building, operations, logistics, and curriculum building for education. Despite the emphasis in this review on management of GI symptoms, this interdisciplinary approach could be adapted for expert care of any NMS.