Research & Literature

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.

Potic A, Popovic V, Ostojic J, et al.

BMC neurology 2015; (15()):22 doi:10.1186/s12883-015-0283-7.

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Gutierrez M, Thiffault I, Guerrero K, et al.

Orphanet journal of rare diseases 2015; (10()):69 doi:10.1186/s13023-015-0279-9.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Battini R, Bertelloni S, Astrea G, et al.

BMC medical genetics 2015; (16()):53 doi:10.1186/s12881-015-0203-0.

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Arai-Ichinoi N, Uematsu M, Sato R, et al.

Human genetics 2016; (135(1)):89-98 doi:10.1007/s00439-015-1617-7.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

La Piana R, Cayami FK, Tran LT, et al.

Neurology 2016; (86(17)):1622-6 doi:10.1212/WNL.0000000000002612.

[Clinical features and diagnosis of Pelizaeus-Merzbacher disease: five case reports].

Espinosa E, Mera-Solarte PR, Cote-Orozco JE

Revista de neurologia 2016; (62(9)):411-4.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, et al.

Brain : a journal of neurology 2017; (140(6)):1561-1578 doi:10.1093/brain/awx095.

4H Leukodystrophy: Lessons from 3T Imaging.

Cayami FK, Bugiani M, Pouwels PJW, et al.

Neuropediatrics 2018; (49(2)):112-117 doi:10.1055/s-0037-1608780.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H, Li D, Wu Y, et al.

PloS one 2018; (13(2)):e0188869 doi:10.1371/journal.pone.0188869.

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

Tewari VV, Mehta R, Sreedhar CM, et al.

BMC pediatrics 2018; (18(1)):126 doi:10.1186/s12887-018-1108-9.

[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case].

Otero-Dominguez E, Gomez-Lado C, Fuentes-Pita P, et al.

Revista de neurologia 2018; (67(9)):339-342.

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Al Yazidi G, Tran LT, Guerrero K, et al.

Movement disorders clinical practice 2019; (6(2)):155-159 doi:10.1002/mdc3.12715.

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.

Choquet K, Forget D, Meloche E, et al.

The Journal of biological chemistry 2019; (294(18)):7445-7459 doi:10.1074/jbc.RA118.006271.

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.

Wu S, Bai Z, Dong X, et al.

BMC pediatrics 2019; (19(1)):289 doi:10.1186/s12887-019-1656-7.

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

Gauquelin L, Cayami FK, Sztriha L, et al.

Neurology. Genetics 2019; (5(6)):e369 doi:10.1212/NXG.0000000000000369.

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.

Hiraide T, Nakashima M, Ikeda T, et al.

Journal of human genetics 2020; (65(10)):921-925 doi:10.1038/s10038-020-0786-y.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

Schmidt JL, Pizzino A, Nicholl J, et al.

American journal of medical genetics. Part A 2020; (182(8)):1906-1912 doi:10.1002/ajmg.a.61641.

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Perrier S, Gauquelin L, Fallet-Bianco C, et al.

Neurology. Genetics 2020; (6(3)):e425 doi:10.1212/NXG.0000000000000425.

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

Campopiano R, Ferese R, Zampatti S, et al.

BMC neurology 2020; (20(1)):258 doi:10.1186/s12883-020-01835-9.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Pelletier F, Perrier S, Cayami FK, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(2)):e660-e674 doi:10.1210/clinem/dgaa700.

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.

Zanette V, Reyes A, Johnson M, et al.

Neurology. Genetics 2020; (6(6)):e521 doi:10.1212/NXG.0000000000000521.

Hypomyelination and Congenital Cataract: Three Siblings Presentation.

Karalok ZS, Gurkasb E, Aydinc K, Ceylaner S

Journal of pediatric neurosciences 2020; (15(3)):270-273 doi:10.4103/jpn.JPN_161_18.

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.

Perrier S, Michell-Robinson MA, Bernard G

Frontiers in cellular neuroscience 2020; (14()):631802 doi:10.3389/fncel.2020.631802.

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

Coulombe B, Derksen A, La Piana R, et al.

Faculty reviews 2021; (10()):12 doi:10.12703/r/10-12.

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy.

Furukawa S, Kunii M, Doi H, et al.

Frontiers in neurology 2021; (12()):622355 doi:10.3389/fneur.2021.622355.

Defective myelination in an RNA polymerase III mutant leukodystrophic mouse.

Merheb E, Cui MH, DuBois JC, et al.

Proceedings of the National Academy of Sciences of the United States of America 2021; (118(40)) doi:10.1073/pnas.2024378118.

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.

Bai H, Li D, Zheng Y, Jiang X

Medicine 2022; (101(34)):e30350 doi:10.1097/MD.0000000000030350.

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Musumeci A, Calì F, Scuderi C, et al.

Biomedicines 2022; (10(9)) doi:10.3390/biomedicines10092276.

Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.

Zea Vera A, Bruce A, Larsh TR, et al.

Movement disorders clinical practice 2023; (10(2)):316-322 doi:10.1002/mdc3.13635.

The First Case of 4H Syndrome with Type 1 Diabetes Mellitus

Büyükyılmaz G, Erozan Çavdarlı B, Toksoy Adıgüzel K, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(1)):103-108 doi:10.4274/jcrpe.galenos.2023.2023-1-15.

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.

Yang H, Wu Z, Li X, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(9)):3363-3368 doi:10.1007/s10072-023-06767-z.

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Macintosh J, Michell-Robinson M, Chen X, Bernard G

Frontiers in neuroscience 2023; (17()):1167047 doi:10.3389/fnins.2023.1167047.

Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report.

Hamdan Z, Alasmar D

Annals of medicine and surgery (2012) 2023; (85(8)):4126-4130 doi:10.1097/MS9.0000000000001033.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Macintosh J, Perrier S, Pinard M, et al.

Frontiers in neurology 2023; (14()):1254140 doi:10.3389/fneur.2023.1254140.

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

Sun L, Lin W, Meng H, et al.

Frontiers in neurology 2023; (14()):1269237 doi:10.3389/fneur.2023.1269237.

Case report: Neuropsychological assessment in a patient with 4H leukodystrophy.

Haneda A, Hoots JK, Hagy HA, Lacy M

The Clinical neuropsychologist 2024; (38(5)):1272-1289 doi:10.1080/13854046.2023.2279697.

POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.

Liu J, Niu Y, Qin J, Yang Z

Frontiers in neurology 2024; (15()):1355484 doi:10.3389/fneur.2024.1355484.

POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

Yau WY, Ashton C, Mulroy E, et al.

Annals of clinical and translational neurology 2024; (11(6)):1636-1642 doi:10.1002/acn3.52064.

Inherited white matter disorders: Hypomyelination (myelin disorders).

Perrier S, Gauquelin L, Bernard G

Handbook of clinical neurology 2024; (204()):197-223 doi:10.1016/B978-0-323-99209-1.00014-4.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Lentini L, Toutounchi H, Chapleau A, et al.

Journal of child neurology 2025; (40(1)):26-38 doi:10.1177/08830738241283171.

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Kraoua I, Jamoussi M, Drissi C, et al.

Molecular genetics & genomic medicine 2024; (12(10)):e70007 doi:10.1002/mgg3.70007.

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Moir RD, Merheb E, Chitu V, et al.

eLife 2024; (13()).

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

Nwatamole B, Kundu S, Odukudu GO, et al.

AACE clinical case reports 2024; (10(6)):229-231 doi:10.1016/j.aace.2024.08.001.

Neuropsychological profile of POLR3A-related spastic ataxia.

Cypers G, Delaruelle Z, den Stock JV

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(3)):1383-1387 doi:10.1007/s10072-024-07884-z.

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

Le A, Thibault KA, Yazdani PA, et al.

Pediatric neurology 2025; (166()):81-87 doi:10.1016/j.pediatrneurol.2025.02.011.

POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario.

Meena AK, Wander A, Mahesan A, et al.

Neurology India 2025; (73(2)):325-329 doi:10.4103/neurol-india.Neurol-India-D-24-00198.

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Perrier S, Macintosh J, Misiaszek AD, et al.

Human mutation 2024; (2024()):8807171 doi:10.1155/2024/8807171.

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".

Sánchez-Román EJ, Villa-Villegas L, Leal-Ortega R, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2025; (15()):42 doi:10.5334/tohm.1000.

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.

Mani Jacob D, Nagarajan DR, Kakade SJ

Cureus 2025; (17(8)):e90642 doi:10.7759/cureus.90642.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Le A, Thibault KA, Yazdani PA, et al.

Pediatric neurology 2026; (176()):31-40 doi:10.1016/j.pediatrneurol.2025.12.004.

Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy.

Cusack SV, Glanzman AM, Gavazzi F, et al.

Developmental medicine and child neurology 2026; doi:10.1111/dmcn.70299.