Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

ABSTRACT:

Introduction

RNA polymerase III (Pol III)-related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B. Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified.

Methods

We report the case of a Tunisian girl of 14 years of age who was referred to our department for evaluation of progressive ataxia that began at the age of 5. Genetic diagnosis was performed by NGS and Sanger analysis. In silico predictions were performed using SIFT, PolyPhen-2, and Mutation Taster.

Results

Neurological examination showed cerebellar and tetrapyramidal syndrome, mixed movement disorders with generalized dystonia and severe myoclonus leading to death at 25 years. Brain MRI scans

SUBMITTER: Kraoua I 

PROVIDER: S-EPMC6732337 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature