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Article

Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.

Molecular genetics & genomic medicine - 1 Sept 2020

Xia Zhou, Wenwen Yin, Xianfeng Yu, Panpan Hu, Xiaoqun Zhu, Zhongwu Sun

Abstract excerpt

BACKGROUND: The most frequent and common form of Krabbe disease (KD) is early-onset KD in infants, and late-onset KD has been reported to be a rare disease. In the present study, we reported an adult-onset KD patient in a consanguineous Chinese family. METHODS: Clinical and radiological data were collected for a family pedigree. The patient was diagnosed with late-onset KD through next-generation sequencing. The...

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Identifiers

PMID: 32677356
DOI: 10.1002/mgg3.1407
PMCID: PMC7507702

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