What question did this study set out to answer?

To define the clinical natural history, motor decline, and translational biomarkers of UBTF-related childhood-onset neurodegeneration with brain atrophy.

August 16, 2026Journal of Medical Genetics

Childhood-onset neurodegeneration and brain atrophy: defining UBTF -related developmental regression and progressive ataxia

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Authors

ANAmanda Nagy ALAnna Luddy FMFrancine Molay

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Overview

Observational study reveals motor decline and elevated neurofilament light chain in UBTF-related neurodegeneration, highlighting digital and molecular biomarkers for tracking progression.

Key Points

To define the clinical natural history, motor decline, and translational biomarkers of UBTF-related childhood-onset neurodegeneration with brain atrophy.
Administered cross-sectional clinical surveys to caregivers of 11 individuals with CONDBA.
Evaluated motor ataxia using the Brief Ataxia Rating Scale (BARS) alongside remote wrist and ankle accelerometry in a patient cohort (N=5).
Quantified neurofilament light chain (NFL) concentrations in the clinic cohort and an in vivo Ubtf E210K knock-in mouse model.
Caregiver surveys (N=11) revealed developmental regression onset at a median of 3.5 years (range 0.5–5 years), with 82% developing ataxia.
Remote accelerometry demonstrated high test-retest reliability, correlated with BARS ataxia severity scores, and captured longitudinal motor activity declines.
Neurofilament light chain levels were abnormally elevated in both affected individuals and the Ubtf E210K knock-in mouse model.

Cite This Study

Nagy et al. (2026) studied this question.

synapsesocial.com/papers/6a8179cbf2fb91fc834ad2a0 https://doi.org/10.1136/jmg-2025-111356

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August 16, 2026Journal of Medical Genetics

Childhood-onset neurodegeneration and brain atrophy: defining UBTF -related developmental regression and progressive ataxia

View Full Paper

Ask AI

Bookmark

Authors

ANAmanda Nagy ALAnna Luddy FMFrancine Molay

Discussion

Member takes

Overview

Observational study reveals motor decline and elevated neurofilament light chain in UBTF-related neurodegeneration, highlighting digital and molecular biomarkers for tracking progression.

Key Points

To define the clinical natural history, motor decline, and translational biomarkers of UBTF-related childhood-onset neurodegeneration with brain atrophy.
Administered cross-sectional clinical surveys to caregivers of 11 individuals with CONDBA.
Evaluated motor ataxia using the Brief Ataxia Rating Scale (BARS) alongside remote wrist and ankle accelerometry in a patient cohort (N=5).
Quantified neurofilament light chain (NFL) concentrations in the clinic cohort and an in vivo Ubtf E210K knock-in mouse model.
Caregiver surveys (N=11) revealed developmental regression onset at a median of 3.5 years (range 0.5–5 years), with 82% developing ataxia.
Remote accelerometry demonstrated high test-retest reliability, correlated with BARS ataxia severity scores, and captured longitudinal motor activity declines.
Neurofilament light chain levels were abnormally elevated in both affected individuals and the Ubtf E210K knock-in mouse model.

Cite This Study

Nagy et al. (2026) studied this question.

synapsesocial.com/papers/6a8179cbf2fb91fc834ad2a0 https://doi.org/10.1136/jmg-2025-111356

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