Publications by authors named "T Benke"

Background: White matter hyperintensities (WMH) have been implicated in the pathogenesis of neuropsychiatric symptoms of dementia but the functional significance of WMH in specific white matter (WM) tracts is unclear. We investigate whether WMH burden within major WM fibre classes and individual WM tracts are differentially associated with different neuropsychiatric syndromes in a large multicentre study.

Method: Neuroimaging and neuropsychiatric data of seven memory clinic cohorts through the Meta VCI Map consortium were harmonised.

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Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.

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Background: Unawareness or anosognosia of memory impairment is a common phenomenon in patients with Alzheimer's disease (AD). Different findings have been reported regarding its presentation, assessment procedure, and cognitive correlates.

Objective: To assess memory awareness of early AD patients predictively (before memory testing) and online (immediately after performing a memory test).

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Unlabelled: N-methyl-D-aspartate receptors (NMDARs) comprise a family of ligand-gated ionotropic glutamate receptors that mediate a slow, calcium-permeable component to excitatory neurotransmission. The GluN2D subunit is enriched in GABAergic inhibitory interneurons in cortical tissue. Diminished levels of GABAergic inhibition contribute to multiple neuropsychiatric conditions, suggesting that enhancing inhibition may have therapeutic utility, thus making GluN2D modulation an attractive drug target.

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Article Synopsis
  • The study aims to analyze the ages and genetic MECP2 variants of recently identified males, laying the groundwork for further investigation into their clinical characteristics.
  • Genetic data were collected from a parent group, focusing on whether MECP2 variants were newly developed or inherited, as well as the prevalence of mosaicism among those meeting Rett syndrome criteria.
  • Out of 59 males examined, the majority had de novo variants, and findings emphasize the necessity for improved diagnostic processes and equitable access to therapeutic options for those with MECP2 variants.
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