Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron+3 more
wiley +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier+20 more
wiley +1 more source
The Spatial Vision Tree: A Generic Pattern Recognition Engine- Scientific Foundations, Design Principles, and Preliminary Tree Design [PDF]
New foundational ideas are used to define a novel approach to generic visual pattern recognition. These ideas proceed from the starting point of the intrinsic equivalence of noise reduction and pattern recognition when noise reduction is taken to its ...
Jobson, Daniel J.+2 more
core +1 more source
GlyphPattern: An Abstract Pattern Recognition for Vision-Language Models [PDF]
Vision-Language Models (VLMs) building upon the foundation of powerful large language models have made rapid progress in reasoning across visual and textual data. While VLMs perform well on vision tasks that they are trained on, our results highlight key challenges in abstract pattern recognition.
arxiv
Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley+5 more
wiley +1 more source
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar+7 more
wiley +1 more source
Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita+7 more
wiley +1 more source
Can Text-to-image Model Assist Multi-modal Learning for Visual Recognition with Visual Modality Missing? [PDF]
Multi-modal learning has emerged as an increasingly promising avenue in vision recognition, driving innovations across diverse domains ranging from media and education to healthcare and transportation. Despite its success, the robustness of multi-modal learning for visual recognition is often challenged by the unavailability of a subset of modalities ...
arxiv
Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study
ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić+13 more
wiley +1 more source