Article
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
BMC neurology - 29 Jun 2020
Campopiano Rosa, Ferese Rosangela, Zampatti Stefania, Giardina Emiliano, Biagioni Francesca, Colonnese Claudio, Centonze Diego, Storto Marianna, Buttari Fabio, Fraviga Edoardo, Broccoli Vania, Fanelli Mirco, Fornai Francesco, Gambardella Stefano
Abstract excerpt
BACKGROUND: Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hypomyelinating leukodystrophies (HL) has been associated with mutations in RNA polymerase III enzymes (Pol III) subunits. CASE PRESENTATION: In this manuscript, we...
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