Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

doi:10.1002/ajmg.a.61641

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Article

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

American journal of medical genetics. Part A - 1 Aug 2020

Schmidt Johanna L, Pizzino Amy, Nicholl Jessica, Foley Allison, Wang Yue, Rosenfeld Jill A, Mighion Lindsey, Bean Lora, da Silva Cristina, Cho Megan T, Truty Rebecca, Garcia John, Speare Virginia, Blanco Kirsten, Powis Zoe, Hobson Grace M, Kirwin Susan, Krock Bryan, Lee Hane, Deignan Joshua L, Westemeyer Maggie A, Subaran Ryan L, Thiffault Isabelle, Tsai Ellen A, Fang Terry, Helman Guy, Vanderver Adeline

Abstract excerpt

Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next...

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PMID: 32573057
DOI: 10.1002/ajmg.a.61641
PMCID: PMC11348680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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