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Updated: Mar 26, 2026
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study
Lesley A Stellitano1, Anne Marie Winstone1, Marjo S van der Knaap2
1PIND Research Group, Addenbrooke's Hospital, Cambridge, UK.
Insights
UK children with brain white matter disorders, including leukodystrophies and genetic leukoencephalopathies, have an estimated lifetime risk. This national study provides crucial epidemiological data on these rare pediatric neurodegenerative diseases.
Area of Science:
- Pediatric Neurology
- Neurodegenerative Diseases
- Epidemiology
Background:
- Progressive Intellectual and Neurological Deterioration (PIND) study identifies children with neurodegenerative conditions.
- Focus on brain white matter disorders within the PIND cohort.
- Addresses the need for national epidemiological data on pediatric white matter diseases.
Purpose of the Study:
- To determine the epidemiology of childhood brain white matter disorders in the UK.
- To report on the lifetime risk of diagnosed leukodystrophies and genetic leukoencephalopathies.
- To highlight the proportion of cases lacking a specific diagnosis.
Main Methods:
- National prospective study utilizing the British Paediatric Surveillance Unit system.
- Data collected from May 1997 to November 2014.
- Identification and classification of children with diagnosed leukodystrophies and genetic leukoencephalopathies.
Main Results:
- Identified 349 children with leukodystrophies (UK lifetime risk: 31/million live births) across 18 diseases.
- Identified 454 children with genetic leukoencephalopathies across 38 diseases.
- 5.8% of children with white matter disorders remained undiagnosed.
Conclusions:
- Brain white matter disorders represent over half of UK pediatric neurodegenerative diseases meeting PIND criteria.
- Prospective national data minimize selection bias compared to single-center studies.
- Provides baseline lifetime risk data for common leukodystrophies for future research.
Aim:
To report on the epidemiology of the brain white matter disorders of children identified via a national prospective study.
Method:
Since 1997 a study of UK children with progressive intellectual and neurological deterioration (PIND) has used the British Paediatric Surveillance Unit system to identify children with progressive neurodegenerative disease. This paper reports on children in the study with brain white matter disorders.
Results:
Between May 1997 and November 2014 the PIND study identified 349 children with diagnosed leukodystrophies, giving an estimated UK lifetime risk of 31/million live births. There were 18 specific diseases in the group and relatively large numbers of affected children came from consanguineous Pakistani families. In addition there were 454 children with genetic leukoencephalopathies - in this group there were 38 diseases. 5.8% of children with scan evidence of brain white matter disorders did not receive a specific diagnosis.
Interpretation:
These unique prospectively-obtained national data avoid the selection bias inherent in reports from single centres. White matter disorders of the central nervous system comprise more than half of UK paediatric neurodegenerative diseases meeting the PIND criteria. This paper reports the lifetime risk/million live births for the commonest leukodystrophies, providing a basis for comparison with future studies.
