Childhood-onset genetic white matter disorders of the brain in Northern Finland

Thesis event information

Date and time of the thesis defence

Place of the thesis defence

Oulu University Hospital, auditorium 12. Remote access: https://oulu.zoom.us/j/62551753502?pwd=RlRGUlFsZFdNbHlIdlJGMmliU3Rudz09#success

Topic of the dissertation

Childhood-onset genetic white matter disorders of the brain in Northern Finland

Doctoral candidate

Licentiate of medicine Oula Knuutinen

Faculty and unit

University of Oulu Graduate School, Faculty of Medicine, PEDEGO Research Unit

Subject of study

PEDEGO Research Unit, Paediatric Neurology

Opponent

Docent Tarja Linnankivi, Helsinki University Hospital

Custos

Professor Johanna Uusimaa, Oulu University Hospital

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The incidence of childhood-onset genetic white matter disorders of the brain is higher than previously thought

Genetic white matter disorders are heritable neurological diseases that commonly have an onset during childhood and cause intellectual disability and other neurodevelopmental disorders. Salla disease, for example, is a leukodystrophy disorder belonging to the Finnish disease heritage characterised by intellectual disability and epilepsy. Based on previous studies, the incidence of genetic white matter disorders is estimated to be 1–13/100 000 live births.

This study examined the incidence, clinical findings, natural history, and genetic aetiologies of childhood-onset genetic white matter disorders in Northern Finland during 1990–2019. The cumulative incidence was 30/100 000 live births—considerably higher than previously estimated. The most common findings were motor developmental delay, intellectual disability, hypotonia, and spasticity.

The study included 20 disorders that were either recently characterised or not previously recognised as white matter disorders. These included TAF1C-related neurological disorder that has not been described previously. Additionally, a patient with a rare phenotype of neonatal Alexander disease was described with comparison to previously published cases. This study showed that childhood-onset genetic white matter disorders are more common than previously thought. The findings on the incidence and genetic phenotypes of specific disorders benefit the clinicians and researchers working with these complex diseases.
Last updated: 6.5.2021