Utility of genetic testing in children with leukodystrophy

Zerem, Ayelet; Libzon, Stephanie; Ben-Sira, Liat; Meirson, Hadas; Hausman-Kedem, Moran; Haviv, Noam; Yosovich, Keren; Mory, Adi; Feldman, Hagit Baris; Lev, Dorit; Lerman‐Sagie, Tally; Fattal‐Valevski, Aviva; Hacohen, Yael; Marom, Daphna

doi:10.1016/j.ejpn.2023.05.008

Cited by 3 publications

(1 citation statement)

References 18 publications

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“…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. 2024

Medical Sciences

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Leukodystrophies, a group of rare demyelinating disorders, 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 study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a 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.

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Section: Introductionmentioning

confidence: 99%

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2024

Medical Sciences

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Next-generation sequencing and its clinical application in leukoencephalopathies and other pediatric neurological disorders

Gärtner

Schröder

2023

European Journal of Paediatric Neurology

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Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Thakkar,

Patel,

Kioutchoukova

et al. 2023

Preprint

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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

Utility of genetic testing in children with leukodystrophy

Cited by 3 publications

References 18 publications

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Next-generation sequencing and its clinical application in leukoencephalopathies and other pediatric neurological disorders

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

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