Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile X syndrome.

Fragile X syndrome (FXS) is a rare neurodevelopmental disorder caused by a CGG repeat expansion ≥ 200 repeats in 5' untranslated region of the FMR1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. A recent phase 2a clinical trial testing BPN14770, a phosphodiesterase 4D inhibitor, showed improved cognition in 30 adult males with FXS on drug relative to placebo. The initial study found significant improvements in clinical measures assessing cognition, language, and daily functioning in addition to marginal improvements in electroencephalography (EEG) results for the amplitude of the N1 event-related potential (ERP) component.

Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile x syndrome.

Fragile X syndrome (FXS) is a rare neurodevelopmental disorder caused by a CGG repeat expansion ≥ 200 repeats in 5' untranslated region of the FMR1 gene, leading to intellectual disability and cognitive difficulties, including in the domain of communication. A recent phase 2a clinical trial testing BPN14770, a phosphodiesterase 4D inhibitor, showed improved cognition in 30 adult males with FXS on drug relative to placebo. The initial study found significant improvements in clinical measures assessing cognition, language, and daily functioning in addition to marginal improvements in electroencephalography (EEG) results for the amplitude of the N1 event-related potential (ERP) component.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.

Purpose: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients.

Design: Retrospective study of imaging data (55-degree blue-FAF on Heidelberg Spectralis) from patients.

Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone FAF 55-degree imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital (RLH) between 2004 and 2019.

The vertical computerized rotational head impulse test.

The computerized rotational head impulse test (crHIT) uses a computer-controlled rotational chair to deliver whole-body rotational impulses to assess the semicircular canals. The crHIT has only been described for horizontal head plane rotations. The purpose of this study was to describe the crHIT for vertical head plane rotations.

Balance strategies for recovery from perturbed overground walking.

Bipedal locomotion is naturally unstable and requires active control. Walking is believed to be primarily stabilized through the selection of foot placements; however, other strategies are available, including regulation of ankle inversion/eversion, ankle push-off, and angular momentum through trunk postural adjustments. The roles of these strategies in maintaining overall stability are often masked by the dominant foot placement strategy.