Journal
JOURNAL OF PEDIATRIC NEUROLOGY
Volume 18, Issue 3, Pages 148-156Publisher
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0039-1684016
Keywords
TBCK; brain pathology; cerebral white matter
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A 3-year-old girl with developmental delays, hypotonia, and generalized seizures was diagnosed with a novel variant of a heterozygous mutation in the TBC1 domain containing kinase (TBCK) gene. Postmortem findings revealed severe hypotrophy of cerebral white matter, hypogenesis of the corpus callosum with reduced myelination and oligodendrocyte populations, and reactive gliosis, and venous angiomas of the cerebrum, brainstem, and cerebellum white matter. This report is the first to link a TBCK gene mutation to impaired white matter development with the targeting of central nervous system myelin and oligodendrocytes. The mechanism may involve inhibition of signaling through (mTORC1).
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