Quantitative MRI in leukodystrophies

Stellingwerff, Menno D.; Pouwels, Petra J. W.; Roosendaal, Stefan D.; Barkhof, Frederik; Knaap, Marjo S. van der

doi:10.1016/j.nicl.2023.103427

Cited by 8 publications

(1 citation statement)

References 179 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Quantitative MRI, providing insights into myelin and axonal content, condition, and white matter composition, aids not only in diagnosis, but also in understanding disease progression [5]. Additionally, genetic testing, focusing on distinct alterations in specific genes, complements the diagnostic process, with advanced sequencing significantly accelerating the speed of diagnosis [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2023

Preprint

View full text Add to dashboard Cite

Leukodystrophies, also known as demyelinating diseases, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns, which can be used as differentiating tools. In this review, we talk about these MRI imaging findings for each leukodystrophy, associated genetics, blood work that can help differentiate, emerging diagnostics, and follow up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, Metachromatic leukodystrophy, Krabbe’s disease, Pelizaeus-Merzbacher disease, Alexander’s disease, Canavan disease, and Aicardi-Goutières Syndrome.

show abstract

Section: Introductionmentioning

confidence: 99%

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

Rey,

Esposito,

Maghraby

et al. 2024

WIREs RNA

View full text Add to dashboard Cite

Leukodystrophies are a class of rare heterogeneous disorders which affect the white matter of the brain, ultimately leading to a disruption in brain development and a damaging effect on cognitive, motor and social‐communicative development. These disorders present a great clinical heterogeneity, along with a phenotypic overlap and this could be partially due to contributions from environmental stimuli. It is in this context that there is a great need to investigate what other factors may contribute to both disease insurgence and phenotypical heterogeneity, and novel evidence are raising the attention toward the study of epigenetics and transcription mechanisms that can influence the disease phenotype beyond genetics. Modulation in the epigenetics machinery including histone modifications, DNA methylation and non‐coding RNAs dysregulation, could be crucial players in the development of these disorders, and moreover an aberrant RNA maturation process has been linked to leukodystrophies. Here, we provide an overview of these mechanisms hoping to supply a closer step toward the analysis of leukodystrophies not only as genetically determined but also with an added level of complexity where epigenetic dysregulation is of key relevance.This article is categorized under: Regulatory RNAs/RNAi/Riboswitches > Regulatory RNA RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development

show abstract