Magnetic resonance imaging patterns of paediatric genetic white matter disorders in Northern Finland
Thesis event information
Date and time of the thesis defence
Place of the thesis defence
Auditorium F202, Kontinkangas campus (Aapistie 5B)
Topic of the dissertation
Magnetic resonance imaging patterns of paediatric genetic white matter disorders in Northern Finland
Doctoral candidate
Licentiate of medicine Jaakko Oikarainen
Faculty and unit
University of Oulu Graduate School, Faculty of Medicine, University of Oulu Graduate School, Faculty of Medicine, Medical Research Center Oulu
Subject of study
radiology
Opponent
Professor Jussi Hirvonen, University of Tampere
Custos
Docent Maria Suo-Palosaari, Oulu University Hospital
Magnetic resonance imaging patterns of paediatric genetic white matter disorders in Northern Finland
Genetic white matter disorders (GWMDs) are a rare and heterogeneous group of disorders affecting the central nervous system. Various primary mitochondrial disorders affect the white matter in the brain and many of these disorders are included in the GWMD category. During the last decade, improvements in genetic testing such as whole exome sequencing and whole genome sequencing have led to recognition of multiple novel disorders. Brain magnetic resonance imaging (MRI) and pattern recognition together with genetic testing remain key methods in recognising and diagnosing these rare disorders
The aim of this thesis was to study the epidemiology and brain imaging characteristics of childhood-onset GWMDs and rare brain disorders in Northern Finland between the years 1990– 2019. Additionally, the goal of the study was to evaluate the genetic and neuroimaging characteristics of novel or recently described disorders found in the study cohort.
In this population-based longitudinal study, all children diagnosed with and treated for GWMDs at Oulu University Hospital during the study period were included in the cohort. Patients for the study were collected both retrospectively and prospectively. Brain MRI data from a total of 83 children with GWMD or genetic disease with significant white matter abnormalities were analysed. The cumulative childhood incidence was 30/100,000 live births. A total of 52 different GWMDs were found within the cohort, including a large proportion (36%) of novel or recently described GWMDs. The share of disorders relating to Finnish disease heritage was 10%. Imaging patterns of novel or recently described disorders were presented and compared to literature. Additionally, neuroimaging features related to Leigh syndrome due to a novel intronic variant in NDUFS7 gene were reported.
This thesis describes the epidemiology and neuroimaging characteristics of childhood-onset GWMDs in a distinct population of Northern Finland from three decades. Recognition of GWMDs remains challenging since radiologists and paediatric neurologists are dealing with rare disorders and low numbers. Comprehensive epidemiological and neuroradiological data is vital for disease recognition and future clinical trials aiming for better disease-specific treatment options.
The aim of this thesis was to study the epidemiology and brain imaging characteristics of childhood-onset GWMDs and rare brain disorders in Northern Finland between the years 1990– 2019. Additionally, the goal of the study was to evaluate the genetic and neuroimaging characteristics of novel or recently described disorders found in the study cohort.
In this population-based longitudinal study, all children diagnosed with and treated for GWMDs at Oulu University Hospital during the study period were included in the cohort. Patients for the study were collected both retrospectively and prospectively. Brain MRI data from a total of 83 children with GWMD or genetic disease with significant white matter abnormalities were analysed. The cumulative childhood incidence was 30/100,000 live births. A total of 52 different GWMDs were found within the cohort, including a large proportion (36%) of novel or recently described GWMDs. The share of disorders relating to Finnish disease heritage was 10%. Imaging patterns of novel or recently described disorders were presented and compared to literature. Additionally, neuroimaging features related to Leigh syndrome due to a novel intronic variant in NDUFS7 gene were reported.
This thesis describes the epidemiology and neuroimaging characteristics of childhood-onset GWMDs in a distinct population of Northern Finland from three decades. Recognition of GWMDs remains challenging since radiologists and paediatric neurologists are dealing with rare disorders and low numbers. Comprehensive epidemiological and neuroradiological data is vital for disease recognition and future clinical trials aiming for better disease-specific treatment options.
Last updated: 12.8.2025