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Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.

Yilin SuLijian WeiLan WangPingyi XuMingshu Mo
Published in: Neurocase (2024)
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.
Keyphrases
  • multiple sclerosis
  • case report
  • intellectual disability
  • early onset
  • genome wide
  • copy number
  • white matter