A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.

Rosa CampopianoRosangela FereseStefania ZampattiEmiliano GiardinaFrancesca BiagioniClaudio ColonneseDiego CentonzeMarianna StortoFabio ButtariEdoardo FravigaVania BroccoliMirco FanelliFrancesco FornaiStefano Gambardella

Published in: BMC neurology (2020)

The present study provides the first evidence of unusually late age of onset in HL, describing two siblings with a novel POLR3A genotype which showed the first symptoms at the age of 41 and 19, respectively. This provides a powerful insight into clinical heterogeneity and genotype-phenotype correlation in POLR3A related HL.

Keyphrases

intellectual disability
single cell
autism spectrum disorder
physical activity
sleep quality