Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.

ABSTRACT:

Objective

To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants.

Methods

A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and previously reported patients with POLR3-HLD and biallelic pathogenic variants in POLR1C. Brain MRI studies were reviewed.

Results

Fourteen female and 9 male patients aged 7 days to 23 years were included in the study. Most participants presented early in life (birth to 6 years), and motor deterioration was seen during childhood. A notable proportion of patients required a wheelchair before adolescence, suggesting a

SUBMITTER: Gauquelin L 

PROVIDER: S-EPMC6927361 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature