Fahr's disease/syndrome is a condition defined as bilateral striato-pallido-dentate calcinosis, a neurodegenerative disease with radiological findings of symmetrical and bilateral idiopathic calcifications of the cerebellum, periventricular white matter, and basal ganglia. Clinical correlation with radiological and a calcium metabolism panel is crucial in differentiating between Fahr's disease and Fahr's syndrome. We describe a case that presented with the clinical feature of a cerebrovascular accident and had an incidental radiological finding of Fahr syndrome. The clinical features, laboratory investigations, and clinical management of Fahr's disease/syndrome will be discussed in detail in the article.
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http://dx.doi.org/10.7759/cureus.4797 | DOI Listing |
The pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia's development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat.
View Article and Find Full Text PDFFront Neurol
January 2025
Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Background: Intracerebral hemorrhage (ICH) is the most lethal and devastating subtype of stroke. Basal ganglia hemorrhage and thalamic hemorrhage are the most common types of ICH, accounting for 50-70% of all ICH cases, leading to disability and death, and it involves the posterior limb of the internal capsule to varying degrees. In this study, we investigated the impact of varying degrees of the involvement of the posterior limb of the internal capsule on the prognosis of patients with basal ganglia and thalamic ICH and assessed whether it improves the predictive accuracy of the max-ICH score, an existing scale for ICH functional outcome.
View Article and Find Full Text PDFAJNR Am J Neuroradiol
January 2025
From the Department of Neurology, the First Hospital of Jilin University, Changchun, Jilin Province, China.
Background And Purpose: Differentiating Parkinson's Disease (PD) from Atypical Parkinsonism Syndrome (APS), including Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP), is challenging, and there is no gold standard. Integrating quantitative susceptibility mapping (QSM) and morphometry can help differentiate PD from APS and improve the internal diagnosis of APS.
Materials And Methods: In this retrospective study, we enrolled 55 patients with PD, 17 with MSA-parkinsonian type (MSA-P), 15 with MSA-cerebellar type (MSA-C), and 14 with PSP.
Neuron
January 2025
Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA 20147, USA. Electronic address:
The interplay between two major forebrain structures-cortex and subcortical striatum-is critical for flexible, goal-directed action. Traditionally, it has been proposed that striatum is critical for selecting what type of action is initiated, while the primary motor cortex is involved in specifying the continuous parameters of an upcoming/ongoing movement. Recent data indicate that striatum may also be involved in specification.
View Article and Find Full Text PDFArtif Intell Med
January 2025
Department of Electronics, Information and Bioengineering, Politecnico di Milano, Milan, Italy; Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
The heterogeneity of psychiatric disorders makes researching disorder-specific neurobiological markers an ill-posed problem. Here, we face the need for disease stratification models by presenting a generalizable multivariate normative modelling framework for characterizing brain morphology, applied to bipolar disorder (BD). We used deep autoencoders in an anomaly detection framework, combined for the first time with a confounder removal step that integrates training and external validation.
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