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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Characterization of Childhood Neurodegeneration an ...
Characterization of Childhood Neurodegeneration and Associated Ataxia in
UBTF
-Related Disorder
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Pdf Summary
A recent study focused on childhood-onset neurodegeneration caused by a specific variant in the UBTF gene. The disorder is characterized by developmental regression, movement disorders, and epilepsy. The study aimed to understand the natural history of the disorder and analyze movement patterns using wrist and ankle accelerometers.<br /><br />The researchers conducted an online survey of families with individuals carrying the UBTF variant. They collected data from 10 fully submitted responses out of 52 surveys started. They also enrolled patients with UBTF-related disorder in a neurogenetics clinic for data collection using wrist and ankle accelerometers. Longitudinal data was collected remotely during daily activities for one-week periods. The findings were compared to data collected from patients with Ataxia-Telangiectasia and control subjects, and motor activity was compared to clinical severity measured by the Brief Ataxia Rating Scale.<br /><br />The study included 5 females and 5 males, with ages ranging from 0 to 20 years. The median age at diagnosis was 12 years, and the median age of symptom onset was 2.5 years. Various clinical features were reported, including failure to thrive, seizures, abnormal movements, and feeding difficulties.<br /><br />The wrist accelerometer data showed milestones such as reaching for objects and standing independently. Regression was reported by all participants, with a mean age of regression onset at 3.75 years. Neurologic features included movement disorders, with ataxia being commonly reported.<br /><br />The study found that motor activity data obtained from the accelerometers was highly reliable and correlated with disease severity. It could potentially be used as a motor biomarker. The study involved the largest cohort with UBTF-related disorder to date, emphasizing the importance of provider and patient education as well as stressor avoidance when possible.<br /><br />The work was supported by the Rare Diseases Clinical Research Network and Mass General Brigham Neurogenetics and Gene Therapy Fellowship.
Asset Subtitle
Presenting Author - Amanda M. Nagy, MD; Co-Author - Anna Luddy, BS; Co-Author - Francine Molay, MSW, LICSW; Co-Author - Lizbeth De La Rosa Abreu, BS; Co-Author - Catherine Becker, NP; Co-Author - Anoopum Gupta, MD, PhD; Co-Author - Florian Eichler, MD;
Meta Tag
Brain/Nervous System
Clinical History
Cognitive Disorders
Natural History
Phenotype
Co-Author
Anna Luddy, BS
Co-Author
Francine Molay, MSW, LICSW
Co-Author
Lizbeth De La Rosa Abreu, BS
Co-Author
Catherine Becker, NP
Co-Author
Anoopum Gupta, MD, PhD
Co-Author
Florian Eichler, MD
Presenting Author
Amanda M. Nagy, MD
Keywords
childhood-onset neurodegeneration
UBTF gene
developmental regression
movement disorders
epilepsy
wrist accelerometer
ankle accelerometer
Ataxia-Telangiectasia
motor activity data
motor biomarker
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