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- W2912014785 abstract "Background:Krabbe disease or Globoid Cell Leukodystrophy is a lysosomal storage disease caused by deficiency of the lysosomal enzyme Galactocerebrosidase. The early onset form is characterized by irritability, abnormal tone, developmental delay and feeding difficulties that start before 12 months and leads to premature death. Pathognomonic findings of classic infantile Krabbe disease are globoid cells, astrogliosis and axonal loss. Umbilical blood cord transplantation has shown to alter the disease progression, by providing enzyme to the brain tissue. There are no neuropathological studies comparing the natural progression of the disease with the brain of a treated patient. The purpose of this study is to examine the neuropathological differences between the treated and untreated patient that shared the same mutation known to cause the early onset form of the disease. Methods: Clinical characteristics, neurodevelopment and neuropathological findings were analyzed and compared in a patient with Krabbe disease that received UBCT as a newborn and an untreated patient. Patients shared the same disease-causing mutation. Results: Developmental trajectories of treated and untreated patients differ significantly. The transplanted patient had no evidence of active demyelination, however, there were myelination abnormalities due to incomplete remyelination partially related to axon loss, and there was absence of globoid cells. The untreated patient had severe leukoencephalopathy with near-complete white matter rarefaction. Conclusions: This is the first reported pathology study in a transplanted patient with Krabbe disease compared with an untreated patient with similar characteristics. Umbilical cord blood transplantation has positive results in the CNS demonstrated by developmental assessments and neuropathological examination. There is evidence of successful engraftment of myeloid cells in the brain, clearance of globoid cells and prevention of new globoid cell formation and prevention of progressive demyelination. Umbilical cord blood transplantation failed to halt disease progression in the peripheral nervous system." @default.
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- W2912014785 date "2019-02-01" @default.
- W2912014785 modified "2023-09-25" @default.
- W2912014785 title "Clinical and neuropathologic findings in two long-term survivors of Krabbe disease with and without umbilical cord blood transplantation" @default.
- W2912014785 doi "https://doi.org/10.1016/j.ymgme.2018.12.199" @default.
- W2912014785 hasPublicationYear "2019" @default.
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