A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.

ABSTRACT: An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of structural microtubulin-associated proteins have been identified to cause a wide spectrum of malformations of cortical development and alterations of microtubule dynamics have been recognized to cause or contribute to progressive neurodegenerative disorders. TBCD is one of the five tubulin-specific chaperones and is required for reversible assembly of the α-/β-tubulin heterodimer. Recently, variants in TBCD, and one other tubulin-specific chaperone, TBCE, have been identified in patients with distinct progressive encephalopathy with a seemingly broad clinical spectrum. Here, we report the clinical, neuroradiological, and neuropatholo

SUBMITTER: Gronborg S 

PROVIDER: S-EPMC6138752 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature