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A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 11 Jun 2026

Tajamolian Masoud, Ravanbod Moez, Alavi Shahryar, Heidari Morteza, Rohani Mohammad, Alavi Afagh

Abstract excerpt

BACKGROUND: RNA polymerase I enzyme plays a pivotal role in the biosynthesis of 28S, 18S, and 5.8S ribosomal RNAs, which are crucial components of the protein synthesis machinery. The largest subunit of this enzyme, POLR1A, is encoded by the POLR1A gene. Homozygous variants in POLR1A cause an ultra-rare disorder known as hypomyelinating leukodystrophy type-27 (HLD27) with only four families reported worldwide to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42271096
DOI: 10.1007/s10072-026-09171-5

Genes

POLR1A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?PMID 42271096Read ↗

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