RESUMEN
Objective@#aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort. @*Methods@#aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes. @*Results@#aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations. @*Conclusion@#aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.
RESUMEN
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
RESUMEN
Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.
RESUMEN
Parkinson's disease (PD) is a common neurodegenerative disorder arising from an interplay between genetic and environmental risk factors. Studies have suggested that the pathological hallmarks of intraneuronal α-synuclein aggregations may start from the olfactory bulb and the enteric nervous system of the gut and later propagate to the brain via the olfactory tract and the vagus nerve. This hypothesis correlates well with clinical symptoms, such as constipation, that may develop up to 20 years before the onset of PD motor symptoms. Recent interest in the gut–brain axis has led to vigorous research into the gastrointestinal pathology and gut microbiota changes in patients with PD. In this review, we provide current clinical and pathological evidence of gut involvement in PD by summarizing the changes in gut microbiota composition and gut inflammation associated with its pathogenesis.
Asunto(s)
Humanos , Encéfalo , Estreñimiento , Sistema Nervioso Entérico , Microbioma Gastrointestinal , Inflamación , Microbiota , Enfermedades Neurodegenerativas , Bulbo Olfatorio , Enfermedad de Parkinson , Patología , Factores de Riesgo , Nervio VagoRESUMEN
Human immunodeficiency virus (HIV) infection can cause variable movement disorders, including parkinsonism. HIV-related parkinsonism usually responds well to highly-active antiretroviral therapy (HAART), suggesting a possible reversible dysfunction of the dopaminergic system. We report the case of a 42-year-old man who presented with rapidly progressive symmetric parkinsonism, cognitive decline, and loss of postural reflex as the initial manifestation of HIV infection. A significant improvement of his parkinsonism after HAART demonstrates a potentially reversible dopaminergic system dysfunction secondary to HIV infection. A normal 99mTc-TRODAT-1 SPECT image after HAART treatment paralleled the clinical improvement in extrapyramidal symptoms. Early identification of HIV-related parkinsonism, especially in patients with symmetrical akinetic-rigidity and early loss of posture reflex, is important for its potential reversibility with HAART therapy.
RESUMEN
Intravascular large B-cell lymphoma (IVLBCL) is a rare non-Hodgkin lymphoma with variable clinical manifestations. Although neurological symptoms are common in patients with IVLBCL, isolated cauda equina-conus medullaris syndrome is rarely reported. We herein report a case of IVLBCL whose initial presentation was cauda equina-conus medullaris syndrome with neither dermatological nor hematological manifestations. A 54-year-old man without known immune-compromised state presented with progressive ascending numbness and weakness of bilateral legs and urine incontinence for 2 months. Lumbar-sacral magnetic resonance images showed gadolinium-enhanced conus medullaris and cauda equina nerve roots. Cerebrospinal fluid analysis revealed lymphocyte predominant pleocytosis and elevated protein level without malignant cells. Focal seizure and mental status changes followed several weeks later. Brain biopsy led to the diagnosis of IVLBCL. Conclusions: IVLBCL should be included in the differential diagnosis of patients with isolated cauda equina-conus medullaris syndrome. A survey of previously published cases in the literature also showed that early initiation of chemotherapy has better outcome.