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Article

Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.

Journal of the peripheral nervous system : JPNS - 1 Dec 2022

Forbes Emily, Smith Kaitlin, Petluru Monica, Nystrom Jered, Fridman Vera

Abstract excerpt

Krabbe disease is a rare autosomal recessive neurodegenerative disease, caused by mutations in the GALC gene, which encodes for the lysosomal enzyme galactocerebrosidase. Typical clinical manifestations of Krabbe include psychomotor deterioration, visual loss, seizures, and spasticity, that result from central nervous system demyelination. We report a case of a 35-year-old male with Krabbe who presented in...

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PMID: 36057781
DOI: 10.1111/jns.12511

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