Acta neurologica Belgica最新文献

Objective: This cross-sectional study aims to assess the levels of stigma among patients with Parkinson's disease (PD) and identify the demographic and clinical factors influencing both internal and external stigma.

Materials and methods: A total of 200 patients diagnosed with PD were recruited from Beijing Tiantan Hospital between June 2023 and June 2024 using convenience sampling. Data were collected through face-to-face interviews, including demographic information, disease severity assessed via the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), and stigma levels measured using the 24-item Stigma Scale for Chronic Illness (SSCI). Statistical analyses included t-tests, ANOVA, correlation analysis, and multivariate linear regression.

Results: The average SSCI score among PD patients was 58.74 ± 13.73, with significant variation based on age, gender, educational level, marital status, disease duration, and motor subtype. Patients aged under 60, male, with lower educational attainment, divorced or widowed, and with longer disease duration had higher SSCI scores. MDS-UPDRS Part I-III scores were positively correlated with both internal and external stigma (r = 0.4, 0.5, and 0.5, respectively, p < 0.001). Multivariate linear regression analysis identified MDS-UPDRS scores, age, self-care ability, marital status, disease duration, and motor subtype as independent predictors of stigma.

Conclusion: Stigma in PD is influenced by a combination of demographic and disease-related factors, particularly disease severity. Targeted interventions focusing on reducing motor and non-motor symptoms, as well as addressing social determinants, may help alleviate the stigma experienced by PD patients. These findings underscore the need for comprehensive management strategies that incorporate both clinical treatment and psychosocial support.

Parkinson's disease (PD) is characterized by motor and non-motor symptoms, including olfactory dysfunction. Prior studies have shown that olfaction deteriorates with disease progression, however fluctuations in olfaction and related PD symptoms have been less explored. This study aimed to investigate correlations between changes in odor identification ability and PD symptoms. PD patients recruited from Taichung Veterans General Hospital underwent at least two consecutive Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and University of Pennsylvania Smell Identification Test (UPSIT) evaluations. The patients were grouped based on changes in olfactory identification ability between evaluations, and fluctuations in PD symptoms were compared between groups. Ninety-seven PD patients with 114 complete sets of data were analyzed. Significant divergent results were observed between changes in five MDS-UPDRS non-motor subscores and the conversion status of five pleasant odors, including anxiety vs. bubble gum, apathy vs. banana, dizziness vs. coconut, urination vs. root beer, and dopamine dysregulation syndrome (DDS) vs. grape. Fluctuations in the ability to detect pleasant odors, may have a complex interaction with other non-motor symptoms, including in the neurobehavioral and autonomic domains. Serial monitoring of olfactory function, particularly with pleasant odors, may provide valuable insights for tracking non-motor symptoms in PD and warrants further investigation into their therapeutic implications.

Extrapulmonary tuberculosis can present with a large variety of mimics of other, treatable, disorders. We present a young man with advanced cranial disease responding to tuberculostatic treatment but posing significant diagnostic and therapeutic challenges.

Background: Trigeminal neuralgia is a disease characterized by severe facial pain that significantly reduces patients quality of life. Trigeminal neuralgia is subcategorized as idiopathic, classic or secondary. Magnetic resonance imaging is the basis for classification, but neurophysiological tests are also used. Magnetic resonance imaging provides neuroanatomical information and neurophysiological testing provides physiological information about the trigeminal nerve.

Methods: Thirty volunteer patients who were diagnosed with trigeminal neuralgia according to the ICHD-3 diagnostic criteria and met the exclusion and inclusion criteria were included. Blink reflex testing was performed after posterior fossa magnetic resonance imaging. Magnetic resonance imaging was evaluated blindly to avoid bias by one radiologist experienced in neuroradiology.

Results: The blink reflex was determined to be abnormal in 26.7% (n = 8) and normal in 73.3% (n = 22) of the patients included in the study. Magnetic resonance imaging revealed no contact with the trigeminal nerve in 53.3% (n = 16) of the patients, whereas 46.7% (n = 14) of the patients had contact with nerves in the cisternal segment. The blink reflex has sensitivity 42.9% and specificity 87.5%, accuracy value of 66.7%, positive predictive value of 75% and negative predictive value of 63.6% with respect to symptomatic mechanic contact.

Conclusion: The blink reflex is a neurophysiologic test that is well tolerated by patients, cost-effective and highly specific in the context of nerve contact in patients with trigeminal neuralgia. The blink reflex is particularly important in the follow-up and evaluation of trigeminal neuralgia patients for whom magnetic resonance imaging is contraindicated.

Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.

Case report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait. Based on the preliminary suspicion of an infection-related autoimmune disease, the patient received intravenous immunoglobulin (IVIG) and pulse steroid therapy. Although initial clinical improvement was observed in opsoclonus and ataxia, ocular symptoms later recurred. Peroxisomal profile revealed elevated plasma levels of phytanic acid, pristanic acid, and very long-chain fatty acids (C26), raising suspicion for ZSD. Consequently, dietary restrictions for very long-chain fatty acids, phytanic acid, and pristanic acid, along with vitamin supplementation (A, D, E, and K), were initiated. Molecular genetic testing identified a homozygous c.2528G > A, p.(Gly843Asp) pathogenic variant in the PEX1 gene, confirming the diagnosis.

Conclusion: Zellweger spectrum disorder presents with a wide range of clinical manifestations. While no effective treatment currently exists, a diet restricted in very long-chain and branched-chain fatty acids, supplementation with vitamins A, D, E, and K, and bile acid therapy are commonly used. In our patient, IVIG and pulse steroid therapy were administered due to a preliminary suspicion of an autoimmune process, resulting in a short-term partial clinical response. To our knowledge, the use of immunotherapy in ZSD has not been previously reported in the literature.