Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.
Neurocase
; 30(2): 63-67, 2024 04.
Article
em En
| MEDLINE
| ID: mdl-38762762
ABSTRACT
Krabbe disease (KD) is classed as the lysosomal storage disease with mutations in the galactosylceramidase (GALC) gene, and commonly showed as autosomal recessive pattern with 30-kb deletion in infantile subtype. In this case, we report a 39-years adult-onset KD (AOKD) patient with multiple sclerosis-like symptoms and neuroimaging changes. She carries the heterozygous mutations in GALC included a missense mutation of c.1901T>C from her mother, and a splicing mutation of c.908+5G>A from her father. The splicing mutations in KD are reviewed and confirmed that c.908+5G>A is a novel splicing mutation in AOKD.
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Base de dados:
MEDLINE
Assunto principal:
Galactosilceramidase
/
Leucodistrofia de Células Globoides
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article