Bibiana Bielekova

Processing Speed Accounts for the Discriminative Power of a Smartphone Go/No-Go Task in Multiple Sclerosis

Péter Kósa, Amir Moghadam Ahmadi, Marie Kanu, Yolanda Mejia et autres

Abstract Background Identifying and longitudinally measuring cognitive decline remains challenging because traditional assessments rely largely on episodic, in-person administration of analog scales by trained examiners. Smartphone technology provides a scalable alternative capable of extracting distinct digital biomarkers from continuous sensor and event …

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DEVELOPMENT OF ORGANOID BASED MODEL TO STUDY IMMUNE-NEURAL INTERACTIONS IN HUMAN CNS DISEASES

Joanna Kocot, Sahar H. Pradhan, Dragan Maric, Peter Kosa et autres

ABSTRACT Modeling neural-immune interactions in neurodegenerative and immune-mediated central nervous system (CNS) diseases requires human 3D models that capture cellular diversity and long-term tissue maturation. Here, we present an enhanced human induced pluripotent stem cell (hiPSC)-derived cerebral organoid (CO) platform optimized to …

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Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis

Clayton W. Winkler, Benjamin Schwarz, Katie Williams, Sara Alehashemi et autres

Genetic mutations affecting proteasome function can result in multi-organ diseases, such as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. Neurological symptoms associated with CANDLE suggest that proteasomal mutations may impact neuronal development and/or function. We generated cerebral organoids …

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Decomposing cognitive-motor planning from execution: smartphone motor sequencing provides scalable digital biomarkers of cognitive-motor function across central nervous system disorders

Peter Kosa, Amir Moghadam Ahmadi, Marie Kanu, Yolanda Mejia et autres

Abstract Dynamic praxis, defined as the ability to plan and execute complex, ordered motor actions, underpins essential activities of daily living and occupational performance. Because motor sequencing depends on distributed frontostriatal and interhemispheric networks, its impairment serves as a sensitive indicator of …

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Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family

Justin Y Kwan, Christian Lantz, Vlad A Korobeynikov, Allison Snyder et autres

Familial forms of ALS are potential candidates for gene-directed therapies, but many recently identified genes remain poorly characterized. Here, we provide a comprehensive clinical, neuropathological, and biochemical description of fALS caused by the heterozygous p.R15L missense mutation in the gene CHCHD10. Using …

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Longitudinal proteomic profiling of cerebrospinal fluid in untreated multiple sclerosis defines evolving disease biology

Péter Kósa, Shinji Ashida, Keith Lumbard, Jing Wang et autres

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, but the molecular mechanisms underlying its course remain incompletely understood. We measured 4789 cerebrospinal fluid proteins in 1040 samples from 438 individuals with MS and controls followed longitudinally. To …

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Profiling the Cerebrospinal Fluid Proteome in Progressive Multiple Sclerosis: Treatment Effects and Associations with IgM Oligoclonal Bands

Sahla El Mahdaoui, Péter Kósa, Mika Komori, José Luis Veiga González et autres

Treatment options for progressive MS (PMS) are limited in numbers and efficacy, which is most pronounced in patients with inflammatory disease activity. Immunoglobulin M (IgM) oligoclonal bands (OCBs) may identify a subset of PMS with more active inflammatory disease. The effects of …

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From Diagnosis to Disease Staging: Multisite Validation of Cerebrospinal Fluid Molecular Tests in Multiple Sclerosis

Laura Ghezzi, Péter Kósa, Mark Greenwood, Enrique Álvarez et autres

Objective The growing demand for personalized treatment in multiple sclerosis (MS) highlights the need for more precise biomarkers that can outperform magnetic resonance imaging and clinical assessment in patient stratification. Advances in multiplex proteomic technologies suggest that cerebrospinal fluid (CSF) analysis at …

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Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family

Justin Kwan, Vladislav A. Korobeynikov, Allison Snyder, Xiaoping Huang et autres

Abstract Familial forms of ALS are potential candidates for gene-directed therapies, but many recently identified genes remain poorly characterized. Here, we provide a comprehensive clinical, neuropathological, and biochemical description of fALS caused by the heterozygous p.R15L missense mutation in the gene CHCHD10. …

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Blood and CSF biomarkers for multiple sclerosis: emerging clinical applications

Tanuja Chitnis, Roberta Magliozzi, Ahmed Abdelhak, Jens Kühle et autres

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A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis

Ruth Chia, Ruin Moaddel, Justin Kwan, Memoona Rasheed et autres

Identifying a reliable biomarker for amyotrophic lateral sclerosis (ALS) is crucial for clinical practice. Here, in this cross-sectional study, we used the Olink Explore 3072 platform to investigate plasma proteomics as a biomarker tool for this neurodegenerative condition. Thirty-three proteins were differentially …

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Intrathecally expanded GZMK+/GZMH+ CD8 T cells targeting EBV antigens may reduce severity of Multiple Sclerosis

Shinji Ashida, Péter Kósa, Francisco Otaizo‐Carrasquero, Dan E. Sturdevant et autres

Combining cerebrospinal fluid B cell receptor and T cell receptor repertoire analysis with transcriptional/ flow cytometry cellular profiles in hundreds of deeply-phenotyped people with Multiple Sclerosis (pwMS) and controls, we identified intrathecal expansion of anti-viral, cytotoxic, granzymes H/K (GZMH+/GZMK+) double positive (DP) …

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