Huw R. Morris

JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?

Elena Ardila-Jurado, Koustubh Bavdhankar, Divyani Garg, Francesca Magrinelli et autres

BACKGROUND: JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well-recognized neurological occurrence in this context, …

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GCH1 genetic variation as a prognostic factor in Parkinson’s disease across populations

Jung Hwan Shin, María Teresa Periñán, Joo Won Jang, Laurel Screven et autres

Abstract Background Pathogenic variants in GCH1 have been associated with Parkinson’s disease (PD), but the clinical phenotype and longitudinal disease course of GCH1 -associated PD remain incompletely characterized. Objectives To characterize the genetic spectrum, clinical phenotype, and longitudinal progression of GCH1 -associated …

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Proximity-extension dementia-panel in 41 brain disorders: a meta-analysis

Elena Raluca Blujdea, Yanaika Sylvana Hok-A-Hin, Adrian-Minh Schumacher, Jodi Maple-Grødem et autres

nl, no, es, us, se, gb, de, hk, jp, dk, it, ca, kn, ch, lu, be (code pays fourni par la source)

Defining the underlying pathology of corticobasal syndrome using clinical features and biomarkers

David P. Vaughan, Marte Theilmann Jensen, Raquel Real, Riona Fumi et autres

Corticobasal degeneration (CBD) is a late onset progressive neurodegenerative condition of the 4-repeat-tauopathy-type, classically presenting with asymmetrical rigidity, dystonia and myoclonus. In the most recent diagnostic criteria, Armstrong and colleagues (2013) described four clinical phenotypes associated with this pathology, including corticobasal syndrome …

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Identifying Blood Proteomic Markers of Parkinson’s Disease Dementia Using High-Throughput Approaches

Raquel Real, Rafaela Ravazio, Anahita Nodehi, Yoav Ben‐Shlomo et autres

Abstract INTRODUCTION Parkinson’s disease (PD) presents with motor and non-motor symptoms, including dementia, but the severity and rate of cognitive decline are heterogeneous and difficult to predict clinically. METHODS We quantified baseline serum proteins with the high-throughput SomaScan ® assay in 834 …

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LRRK2 in Focus: A Global Browser Linking Genetic Diversity to Functional Effects

Spencer M. Grant, Vesna van Midden, Elias Fernandez-Toledo, Momodou Cham et autres

Abstract Background LRRK2 variants are major contributors to Parkinson’s disease (PD). Many pathogenic variants increase kinase activity, underscoring the value of functional assays in nominating therapeutic targets and kinase inhibitors as potential disease-modifying therapies. Objective To develop an interactive resource that provides …

us, gb, si, cl, Ghana, de (code pays fourni par la source)

Early assessment, diagnosis and treatment of Parkinsonism and Related Syndromes study (ExPRESS): a protocol for an observational study on incident parkinsonism

Riona Fumi, Isabella Caraiscos, Edwin Jabbari, Timothy Rittman et autres

INTRODUCTION: Existing evidence from cohort studies of atypical parkinsonism has demonstrated that median time from symptom onset to diagnosis is 3.4 years for progressive supranuclear palsy (PSP) and 3.1 years for multiple system atrophy (MSA). This compares to only 1.0-1.2 years in …

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Large-scale functional annotation establishes a reference framework for human LRRK2 variants

Anthea Cheung, Neringa Pratuseviciute, Kirsten Black, Paweł Lis et autres

Abstract Pathogenic variants in leucine-rich repeat kinase 2 ( LRRK2 ) 1 are among the most frequent monogenic causes of Parkinson’s disease (PD) 2 and act through a gain-of-function mechanism of increased kinase activity. LRRK2 -targeted therapies are in clinical development, but …

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Exploring MAPT-containing H1 and H2 haplotypes in Parkinson’s disease across diverse populations

Paula Reyes‐Pérez, Jia Wei Hor, Tzi Shin Toh, Arinola O. Sanyaolu et autres

), has been associated with neurodegenerative disorders, including Parkinson's disease (PD). This highly complex locus is characterized by two broadly defined haplotypes: H1 and the inverted H2 haplotype. While H1 has been associated with an increased PD risk and is present in …

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Repeat expansions in Parkinson’s disease and parkinsonism across ancestries: insights from a global genetic cohort

Lara Mariah Lange, Catalina Cerquera‐Cleves, Ai Huey Tan, Shen‐Yang Lim et autres

Abstract Expanded short tandem repeats contribute to a broad spectrum of neurodegenerative diseases, yet their roles in Parkinson’s disease (PD) and parkinsonism remain incompletely characterized, especially across diverse ancestries. We analyzed short-read whole-genome (WGS) and clinical exome sequencing (CES) data from 38,365 …

us, de, co, ca, my, Nigéria, tw, kr, gb, Tunisie (code pays fourni par la source)

Emerging directions in tauopathy research

Luc Buée, Kristin R. Wildsmith, Suvarna Alladi, Taylor Bertucci et autres

The Tau Global Conference 2025, hosted by the Alzheimer's Association, CurePSP, and the Rainwater Charitable Foundation, convened international experts from academia, industry, government, and philanthropy to explore advances and challenges in tauopathy research. The meeting highlighted progress across tau biology, including emerging …

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Biomarkers of Leucine‐Rich Repeat Kinase 2 ( LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real et autres

Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP). Our …

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