Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Molecular Genetics & Genomic Medicine Pub Date : 2025-02-01 DOI:10.1002/mgg3.70065

Yujun Sun, Jiayuan Zheng, Lei He, Xiaojuan Li, Wenzhou Liu, Jionglin Wu, Jiajie Li, Taolue Zhou, Gang Zeng, Weidong Song, Yanbo Chen

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引用次数: 0

Abstract

Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family. The first case involves a 25-year-old female who sought treatment due to long-standing spastic gait and deformities in her lower limbs. A muscle biopsy revealed muscle atrophy, and electromyography indicated neurogenic damage. Her 27-year-old sister (Case 2) exhibited similar lower limb weakness, along with more severe central and peripheral neurological symptoms.

Methods: The patients' peripheral blood was retained for galactocerebrosidase (GALC) enzyme activity assaying and whole exome gene sequencing.

Results: GALC enzyme activity assaying showed decreased GALC activity and gene sequencing revealed homozygous mutation of p.L634S (c.1901T>C) in the two cases.

Conclusion: This study broadens the scope for considering of KD in the diagnosis of patients presenting with muscle weakness and deformities in the lower limbs.

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来源期刊

Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

4.20

自引率

0.00%

发文量

241

审稿时长

14 weeks

期刊介绍： Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.