Introduction: In Wilson's disease (WD), brain magnetic resonance images (MRI) show increased signal intensity in T2 weighted images in the lenticular nuclei, thalamus and brainstem, including the substantia nigra. A poor therapeutic response to levodopa in WD suggests the mechanism of a postsynaptic abnormality. However positron emission tomography studies show an involvement of the nigrostriatal presynaptic dopaminergic pathway.
Case Report: We report the clinical manifestations in a case of WD with akinetic-rigid syndrome and initial hesitation. The brain MRI showed an increased signal intensity lesion in the substantia nigra region, in addition to basal ganglion and thalamic lesions. However, dopamine transporter (DAT) imaging with 99mTc-TRODAT-1 revealed a nonsignificantly increased DAT uptake, suggesting a normal presynaptic nigrostriatal dopaminergic terminal.
Conclusion: We suggest that significant heterogeneity can be found in WD patients and a normal presynaptic dopaminergic pathway may occur in some patients, even those with typical akinetic-rigid syndrome and evidence of substantia nigra involvement in the brain on MRI.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1017/s0317167100053464 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
TDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies.
Mov Disord
January 2025
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Background: Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin.
Objectives: Little is known regarding the contributions of TDP-43, an RNA binding protein that represses cryptic exon inclusion, in PS.
Deficiency of histamine H receptors in parvalbumin-positive neurons leads to hyperactivity, impulsivity, and impaired attention.
Neuron
January 2025
Department of Pharmacology and Department of Pharmacy of the Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of the Ministry of Health of China, School of Basic Medical Sciences, Zhejiang University School of Medicine, Hangzhou 310058, China. Electronic address:
Attention deficit hyperactivity disorder (ADHD), affecting 4% of the population, is characterized by inattention, hyperactivity, and impulsivity; however, its neurophysiological mechanisms remain unclear. Here, we discovered that deficiency of histamine H receptor (HR) in parvalbumin-positive neurons in substantia nigra pars recticulata (PV) attenuates PV neuronal activity and induces hyperactivity, impulsivity, and inattention in mice. Moreover, decreased HR expression was observed in PV in patients with ADHD symptoms and dopamine-transporter-deficient mice, whose behavioral phenotypes were alleviated by HR agonist treatment.
View Article and Find Full Text PDFDoes age, sex, and area of substantia nigra echogenicity predict the MRI appearance of nigrosome-1?
J Neurol Sci
January 2025
UniSA Clinical & Health Sciences and Alliance for Research in Exercise, Nutrition and Activity (ARENA), City East Campus, University of South Australia, GPO Box 2471, Adelaide, South Australia 5001, Australia. Electronic address:
The appearance of the substantia nigra (SN) can aid diagnosis of Parkinson's disease (PD). The effect of age and sex on the appearance of nigrosome-1 (SN subregion) on magnetic resonance imaging (MRI), and the relationship between nigrosome-1 (viewed with MRI) and SN echogenicity (viewed with transcranial ultrasound) is unknown. The study aimed to address these knowledge gaps.
View Article and Find Full Text PDF"Actor-critic" dichotomous hyperactivation and hypoconnectivity in obsessive-compulsive disorder.
Neuroimage Clin
December 2024
Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), University of Coimbra, 3000-548 Coimbra, Portugal; Institute for Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, 3000-548 Coimbra, Portugal; Faculty of Medicine, Institute of Physiology, University of Coimbra, 3004-531 Coimbra, Portugal. Electronic address:
Dysfunctional response inhibition, mediated by the striatum and its connections, is thought to underly the clinical manifestations of obsessive-compulsive disorder (OCD). However, the exact neural mechanisms remain controversial. In this study, we undertook a novel approach by positing that a) inhibition is a dynamic construct inherently susceptible to numerous failures, which require error-processing, and b) the actor-critic framework of reinforcement learning can integrate neural patterns of inhibition and error-processing in OCD with their behavioural correlates.
View Article and Find Full Text PDFAutomated segmentation of deep brain structures from Inversion-Recovery MRI.
Comput Med Imaging Graph
January 2025
Université Clermont Auvergne, Clermont Auvergne INP, CNRS, Institut Pascal, F-63000 Clermont-Ferrand, France; Université Clermont Auvergne, CNRS, CHU Clermont-Ferrand, Clermont Auvergne INP, Institut Pascal, F-63000 Clermont-Ferrand, France.
Methods for the automated segmentation of brain structures are a major subject of medical research. The small structures of the deep brain have received scant attention, notably for lack of manual delineations by medical experts. In this study, we assessed an automated segmentation of a novel clinical dataset containing White Matter Attenuated Inversion-Recovery (WAIR) MRI images and five manually segmented structures (substantia nigra (SN), subthalamic nucleus (STN), red nucleus (RN), mammillary body (MB) and mammillothalamic fascicle (MT-fa)) in 53 patients with severe Parkinson's disease.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!