Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …

RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA,
transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III …

The RNA polymerase II complex (pol II) is responsible for transcription of all∼ 21,000
human protein-encoding genes. Here, we describe sixteen individuals harboring de novo …

Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in
combination with cerebellar and pyramidal signs and variable non-neurological …

Background RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an
autosomal recessive hypomyelinating leukodystrophy characterized by neurological …

Background Hereditary spastic paraplegias (HSP) are neurodegenerative disorders
characterized by lower limb spasticity and weakness, with or without additional symptoms …

Background Biallelic variants in POLR3A encoding the largest subunit of RNA polymerase III
cause POLR3-related (or 4H) leukodystrophy characterized by neurologic dysfunction …

Mutations in POLR3A are characterized by high phenotypic heterogeneity, with
manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic …

Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous
carriers of an intronic mutation (c. 1909+ 22G> A) in the POLR3A gene. Here, we present ten …

POLR3‐related hypomyelinating leukodystrophy (POLR3‐HLD) is a rare inherited
neurological disorder caused by biallelic pathogenic variants in specific genes encoding …