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The Spectrum of Inherited Gray Matter Degenerative Brain Disorders (DBD) in Children: A Single-Center Study
Ram Prabhu1, Arushi G Saini1, Renu Suthar1
1Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Insights
Inherited gray matter degenerative brain disorders (DBD) affect 3.1% of children, with Wilson disease, neuronal ceroid lipofuscinosis (NCL), and neurodegeneration with brain iron accumulation (NBIA) being most common. Early diagnosis is crucial for preventing recurrence.
Area of Science:
- Pediatric Neurology
- Neurogenetics
- Child Neurology
Background:
- Inherited gray matter degenerative brain disorders (DBD) represent a significant challenge in pediatric neurology.
- Understanding the spectrum and prevalence of these disorders is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the clinical spectrum and prevalence of inherited gray matter degenerative brain disorders (DBD) in children.
- To identify the most common inherited gray matter DBDs and their age-specific distribution.
Main Methods:
- A cross-sectional study was conducted between July 2019 and December 2020.
- Evaluated 117 children diagnosed with inherited gray matter DBD up to 12 years of age.
- Classified disorders based on age of onset and predominant cerebral structure involved.
Main Results:
- The clinic-based prevalence of inherited gray matter DBD was 3.1%, accounting for 37.3% of all DBD cases.
- Wilson disease (18%), neuronal ceroid lipofuscinosis (NCL) (17%), and neurodegeneration with brain iron accumulation (NBIA) (16%) were the most frequent disorders.
- Age-specific common disorders included NBIA, Rett syndrome, and gangliosidoses (<2 years); NCL and ataxia telangiectasia (2-5 years); and Wilson disease (6-12 years).
Conclusions:
- Inherited gray matter DBDs impose a substantial burden on pediatric populations.
- Wilson disease, NCL, and NBIA are the leading causes of inherited gray matter DBD in children.
- Prompt diagnosis is essential for preventing recurrence in families.
Objectives:
To study the clinical spectrum of inherited gray matter degenerative brain disorders (DBD) in children.
Methods:
This cross-sectional study evaluated children up to 12 y of age, diagnosed with an inherited gray matter DBD in a tertiary care pediatric hospital between July 2019 and December 2020.
Results:
A total of 314 children with progressive neuroregression were screened. Of these, 117 children with inherited gray matter DBD were included in the study. The clinic-based prevalence of DBD was 8.2%, and inherited gray matter DBD was 3.1%. The proportion of the inherited gray matter DBD was 37.3% among the overall DBD cases. Children were categorized into three groups based on the age at onset of disease: below 2 years (N = 57, 48.7%), between 2 and 5 years (N = 32, 27.3%), and between 6 and 12 years (N = 28, 23.9%). Based on the predominant cerebral structure involved, gray matter DBD were classified as cerebral gray matter disorders (53%), basal ganglia disorders (34.1%), and cerebellar disorders (12.8%). Overall, the most common disorders were Wilson disease (18%), neuronal ceroid lipofuscinosis (NCL) (17%), and neurodegeneration with brain iron accumulation (NBIA) (16%). The most common gray matter DBD in children <2 years of age were NBIA (n = 11), Rett syndrome (n = 11), and gangliosidoses (n = 10). NCL (n = 14) and ataxia telangiectasia (n = 6) were most common in the age group of 2-5 years. Wilson disease (n = 19) was the most common disorder in the age group of 6-12 years followed by NCL (n = 4) and NBIA (n = 3).
Conclusion:
Our study highlights the burden and spectrum of gray matter DBD in children. The clinic-based prevalence of DBD was 8.2%, and of inherited gray matter DBD was 3.1%. The proportion of inherited gray matter DBD was 37.3% among the overall DBD cases. Wilson disease, NCL, and NBIA are the most common gray matter DBD in children. Timely diagnosis is important for the prevention of recurrence in subsequent pregnancies.
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