Results 321 to 330 of about 12,683,086 (405)

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing   +4 more
wiley   +1 more source

The MSA Atrophy Index (MSA‐AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo   +11 more
wiley   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah   +4 more
wiley   +1 more source

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