Mov Disord Clin Pract
August 2025
Background: Pregnancy after a Parkinson's diagnosis presents complex challenges. Due to the paucity of literature, there is no evidence-based guidelines and protocols for preconception care, management of pregnancy, childbirth and the postpartum period in women with early-onset Parkinson's disease (PD). Decision-making can be fraught with uncertainty for both patients and healthcare providers.
View Article and Find Full Text PDFX chromosome-wide association studies (XWAS) have identified susceptibility variants for various neurodegenerative and neurodevelopmental diseases. The unique characteristics of the chromosome require more complex analytical approaches than standard genome-wide association studies. Over the past 2 decades, refined XWAS methods have better accounted for this biology.
View Article and Find Full Text PDFInt J Public Health
July 2025
Objectives: This study aims to establish a multicenter database to evaluate Parkinson's disease in the MENASA region in the context of expert care.
Methods: The CGD-PD consortium includes 20 institutes from 9 MENASA countries. The database collects comprehensive data from PD patients.
Objective: A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss-of-function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation and the details of the associated epilepsy and movement disorders.
View Article and Find Full Text PDFMov Disord Clin Pract
November 2024
Multiple sclerosis (MS) is a common autoimmune neurological disease affecting patients' motor, sensory, and visual performance. Stem Cell Transplantation (SCT) is a medical intervention where a patient is infused with healthy stem cells with the purpose of resetting their immune system. SCT shows remyelinating and immunomodulatory functions in MS patients, representing a potential therapeutic option.
View Article and Find Full Text PDFMED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants.
View Article and Find Full Text PDFMov Disord Clin Pract
February 2023
Background: Spiral drawing is an important test in monitoring essential tremor (ET). With the rise of telemedicine amid the coronavirus disease 2019 pandemic, a contactless tool for monitoring tremors was required. We aimed to assess the validity of a novel smartphone technology using a video-based social media platform for rapid and objective monitoring of ET.
View Article and Find Full Text PDFBackground: Pridopidine is a novel drug that helps stabilize psychomotor function in patients with Huntington's disease (HD) by activating the cortical glutamate pathway. It promises to achieve the unmet needs of current therapies of HD without worsening other symptoms.
Objective: To review the literature discussing the efficacy of pridopidine in alleviating motor symptoms and its safety in patients with HD.
Amantadine has been proposed to inhibit E-channel conductance in reconstituted lipid bilayers of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We aimed to study whether patients on amantadine have altered risks of contracting COVID-19 infection. We conducted a hospital-based, observational, retrospective cohort study using data for patients on amantadine supported by data given by the patients through an online questionnaire.
View Article and Find Full Text PDFEgypt J Neurol Psychiatr Neurosurg
September 2021
Mov Disord Clin Pract
August 2021
Idiopathic intracranial hypertension (IIH) affects predominantly obese females during their reproductive age period. The demographics of this condition has not been studied in Kuwait before. To determine the demographics, clinical features, risk factors, and treatment modalities of IIH in the main neurology tertiary referral hospital in Kuwait and to compare our data with literature.
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