[Genetic analysis of a case with Adult-onset globoid cell leukodystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 215-220, 2024 Feb 10.
Article
in Zh
| MEDLINE
| ID: mdl-38311562
ABSTRACT
OBJECTIVE:
To explore the clinical features and genetic etiology of a patient with Adult-onset globoid cell leukodystrophy/Krabbe disease (KD).METHODS:
A patient who was admitted to the Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology on February 15, 2022 due to exacerbation of right leg weakness for over 4 years was selected as the study subject. Clinical data and results of medical imaging and genetic analysis were analyzed. Candidate variants were verified by family analysis.RESULTS:
The patient, a 36-year-old woman, had spasmodic gait as the primary presentation. Cranial magnetic resonance imaging (MRI) revealed symmetrical abnormalities in the bilateral corticospinal tracts, and the activity of ß-galactocerebrosidase (GALC) in her white blood cells was significantly decreased. The patient was found to harbor compound heterozygous variants of the GALC gene, namely c.461C>A (p.Pro154His) and c.1901T>C (p.Leu634Ser). Her mother, sister and nephew were heterozygous carriers of the c.461C>A (p.Pro154His) variant, whilst her father was heterozygous for the c.1901T>C (p.Leu634Ser) variant.CONCLUSION:
The patient was ultimately diagnosed with adult-onset KD, for which the compound heterozygous variants of the GALC gene may be accountable.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Leukodystrophy, Globoid Cell
Limits:
Adult
/
Female
/
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
/
Zhonghua yi xue yi chuan xue za zhi
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country:
China
Country of publication:
China