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White matter brain lesions in Infantile-onset Pompe disease are not metabolically active using…
Infantile-onset Pompe disease (IOPD) is a rare, progressive, recessive muscle disorder caused by a (near) complete deficiency of the lysosomal alpha-glucosidase (GAA), leading to an accumulation of glycogen. Untreated patients die before…
Circulating metabolites differentiate acute ischemic stroke from stroke mimics
Steffen Tiedt,
Stefan Brandmaier,
Hanna Kollmeier,
Marco Duering,
Anna Artati,
Jerzy Adamski,
Matthias Klein,
Thomas Liebig,
Lesca M. Holdt,
Daniel Teupser,
Rui Wang‐Sattler,
Edzard Schwedhelm,
Christian Gieger,
Martin Dichgans
0
Objective
Early discrimination of patients with ischemic stroke (IS) from stroke mimics (SM) poses a diagnostic challenge. The circulating metabolome might reflect pathophysiological events related to acute IS. Here, we investigated the…
Early‐onset parkinsonism is a manifestation of the PPP2R5D p.E200K mutation
Christine Y. Kim,
Thomas Wirth,
Cécile Hubsch,
Andrea H. Németh,
Volkan Okur,
Mathieu Anheim,
Nathalie Drouot,
Christine Tranchant,
Gabrielle Rudolf,
Jamel Chelly,
Katrina Tatton‐Brown,
Cornelis Blauwendraat,
Jean Paul G. Vonsattel,
Etty Cortes,
Roy N. Alcalay,
Wendy K. Chung
0
PPP2R5D‐ related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early‐onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical…
Environmental factors and hyperacute stroke care activity during the COVID-19 pandemic: An…
Matthew Gittins, Christopher Ashton, Neil Holden, Stephen Cross, Srinath Meadipudi, Khalil Kawafi, Ilse Burger, Sarah Rickard, Andy Vail, Jane Molloy, Craig J. Smith
0
Concerns have arisen regarding patient access and delivery of acute stroke care during the COVID-19 pandemic. We investigated key population level events on activity of the three hyperacute stroke units (HASUs) within Greater Manchester and…
ADNC-RS, a clinical-genetic risk score, predicts Alzheimer’s pathology in autopsy-confirmed…
Abstract
Growing evidence suggests overlap between Alzheimer’s disease (AD) and Parkinson’s disease (PD) pathophysiology in a subset of patients. Indeed, 50–80% of autopsy cases with a primary clinicopathological diagnosis…
A Qualitative Study to Assess the Content Validity of the 24‐Hour Migraine Quality of Life…
Objective
A concept elicitation, cognitive debriefing, and usability study was undertaken to: (1) explore migraine symptoms and day‐to‐day impacts; (2) determine the comprehensiveness and comprehensibility of the previously developed…
Identifying a Comprehensive ceRNA Network to Reveal Novel Targets for the Pathogenesis of…
Parkinson's disease (PD) is the second commonest progressive neurodegenerative disease worldwide. Increasing evidence reveals that non-coding RNAs play roles in the pathophysiological process of PD. The notion called competing endogenous…
A Case Report of Parry–Romberg Syndrome Misdiagnosed as Multiple Sclerosis
Background: Parry–Romberg syndrome (PRS) is a rare disease that causes hemiatrophy of the face. The pathophysiological mechanisms involved in its etiology are unknown, but several previous reports suggest the involvement of autoimmune…
A Case-Controlled Pilot Study on Rhythmic Auditory Stimulation-Assisted Gait Training and…
Deep brain stimulation (DBS) is indicated when motor disturbances in patients with idiopathic Parkinson's disease (PD) are refractory to current treatment options and significantly impair quality of life. However, post–DBS rehabilitation is…
Modern Brainstem MRI Techniques for the Diagnosis of Parkinson’s Disease and Parkinsonisms
The brainstem is the earliest vulnerable structure in many neurodegenerative diseases like in Multiple System Atrophy (MSA) or Parkinson's disease (PD). Up-to-now, MRI studies have mainly focused on whole-brain data acquisition. Due to its…