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Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

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Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

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Pathology of the neurovascular unit in leukodystrophies

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Association of Rare Variants in ARSA with Parkinson's Disease

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Dynamic Lamin B1-Gene Association During Oligodendrocyte Progenitor Differentiation

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Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies

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Solving the hypomyelination conundrum - Imaging perspectives

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Gene and Cellular Therapies for Leukodystrophies

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From BBB to PPP : Bioenergetic requirements and challenges for oligodendrocytes in health and disease

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New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies

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A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophyPreprint

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Basic Microglial Functions and How They Go Awry in Neurodegenerative Disease

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A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy

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DEGS1-related leukodystrophy: a clinical report and review of literature

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Regional vulnerability of brain white matter in vanishing white matter

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Cd59 and inflammation regulate Schwann cell development

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Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies

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Hematopoietic stem cell transplantation in leukodystrophies

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Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures

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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

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Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

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The Role of Extracellular Vesicles in Demyelination of the Central Nervous System

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Cortical Pathology in Vanishing White Matter

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Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

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Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

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Emerging Concepts in Vector Development for Glial Gene Therapy: Implications for Leukodystrophies

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Central nervous system autopsy — a neuropathological procedure based on multidisciplinary pathoclinical cooperation

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Septins in the nervous system: from cytoskeletal dynamics to neurological disorders

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Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)

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Astroglia in Leukodystrophies

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Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1

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A Novel Vitronectin Peptide Facilitates Differentiation of Oligodendrocytes from Human Pluripotent Stem Cells (Synthetic ECM for Oligodendrocyte Differentiation)

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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Ataei, Z., Nouri, Z. H. M., Tavakoli, F., Pourreza, M. R., Narrei, S., & Tabatabaiefar, M. A. (2023) · PLoS ONE · doi:10.1371/journal.pone.0282304 · Cited by 10

The Role of White Matter Dysfunction and Leukoencephalopathy/Leukodystrophy Genes in the Aetiology of Frontotemporal Dementias: Implications for Novel Approaches to Therapeutics

Lok, H. C., & Kwok, J. B. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22052541 · Cited by 10

Case report: ‘AARS2 leukodystrophy’

Axelsen, T. M., Vammen, T. L., Bak, M., Pourhadi, N., Stenør, C., & Grønborg, S. W. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100782 · Cited by 10

In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice

Böck, D., Revers, I. M., Bomhof, A. S. J., Hillen, A. E. J., Boeijink, C., Kissling, L., Egli, S., Moreno-Mateos, M. A., van der Knaap, M. S., van Til, N. P., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.03.009 · Cited by 9

Pathologic and Therapeutic Schwann Cells

Shurin, M. R., Wheeler, S., Zhong, H. M., & Zhou, Y. (2025) · Cells · doi:10.3390/cells14171336 · Cited by 9

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

Wang, J., Chen, S., Zhang, H., Wang, M., Zhu, J., & Zhang, X. (2019) · Brain and Behavior · doi:10.1002/brb3.1313 · Cited by 9

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

Derksen, A., Shih, H., Forget, D., Darbelli, L., Tran, L. T., Poitras, C., Guerrero, K., Tharun, S., Alkuraya, F. S., Kurdi, W., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100034 · Cited by 9

White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology

Zerem, A., Ben‐Sira, L., Vigdorovich, N., Leibovitz, Z., Fisher, Y., Schiffmann, R., Grishchuk, Y., Misko, A. L., Orenstein, N., Lev, D., et al. (2021) · Metabolic Brain Disease · doi:10.1007/s11011-021-00742-3 · Cited by 9

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

Helman, G., Zerem, A., Almad, A., Hacker, J. L., Woidill, S., Sase, S., LeFevre, A. N., Ekstein, J., Johansson, M. M., Stutterd, C., et al. (2021) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2021.04.014 · Cited by 9

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Roubertie, A., Charif, M., Meyer, P., Manès, G., Meunier, I., Taïeb, G., Morales, R. J., Guichet, A., Delettre, C., Sarzi, E., et al. (2019) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.50860 · Cited by 9

Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival

Khorrami, M., Khorram, E., Yaghini, O., Rezaei, M., Hejazifar, A., Iravani, O., Yazdani, V., Riahinezhad, M., & Kheirollahi, M. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01810-0 · Cited by 9

Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies

Schiller, S. A., Henneke, M., & Gärtner, J. (2019) · Neuropediatrics · doi:10.1055/s-0039-1685529 · Cited by 9

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

Helman, G., Viaene, A. N., Takanohashi, A., Breur, M., Berger, R. S., Woidill, S., Cottrell, J. R., Schiffmann, R., Crow, Y. J., Simons, C., et al. (2020) · Journal of Child Neurology · doi:10.1177/0883073820958330 · Cited by 8

Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review

Wang, M., Wu, C., & Zhang, Z. (2023) · Journal of Neurology · doi:10.1007/s00415-023-11760-9 · Cited by 8

Proteomic investigation of neural stem cell to oligodendrocyte precursor cell differentiation reveals phosphorylation-dependent Dclk1 processing

Hardt, R., Dehghani, A., Schoor, C., Gödderz, M. P. O., Winter, N. C., Ahmadi, S., Sharma, R. K., Schork, K., Eisenacher, M., Gieselmann, V., et al. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-04892-8 · Cited by 8

A comprehensive review on structural and therapeutical insight of Cerebroside sulfotransferase (CST) - An important target for development of substrate reduction therapy against metachromatic leukodystrophy

Singh, N., & Singh, A. K. (2023) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2023.128780 · Cited by 8

Primary microgliopathy presenting as degenerative dementias: A case series of novel gene mutations from India

Ramakrishnan, S., Arshad, F., Bs, K., Pon, A. G., Bosco, S., Kumar, S., Chidambaram, H., Chinnathambi, S. C. B., Kulanthaivelu, K., Arunachal, G., et al. (2024) · Dementia and Geriatric Cognitive Disorders Extra · doi:10.1159/000538145 · Cited by 8

Microbiota gut-brain axis: implications for pediatric-onset leukodystrophies

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A fatal alliance: Glial connexins, myelin pathology and mental disorders

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Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions

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Leukodystrophies — much more than just diseases of myelin

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Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis

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Pharmacological modulation of the blood-brain barrier: Mechanisms, therapeutic strategies, and emerging technologies

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Cervical myelitis: a practical approach to its differential diagnosis on MR imaging

Weidauer, S., Hattingen, E., & Arendt, C. T. (2023) · RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren · doi:10.1055/a-2114-1350 · Cited by 7

Macrophage transplantation rescues RNASET2-deficient leukodystrophy by replacing deficient microglia in a zebrafish model

Rutherford, H. A., Candeias, D., Duncan, C. J. A., Renshaw, S. A., & Hamilton, N. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2321496121 · Cited by 7

Overview of Neuro-Ophthalmic Findings in Leukodystrophies

Bettinger, C., Dulz, S., Atiskova, Y., Guerreiro, H., Schön, G., Guder, P., Maier, S. L., Denecke, J., & Bley, A. E. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13175114 · Cited by 7

Co-culture of Human Stem Cell Derived Neurons and Oligodendrocyte Progenitor Cells

Dooves, S., Nadadhur, A. G., Gasparotto, L., & Heine, V. M. (2019) · BIO-PROTOCOL · doi:10.21769/bioprotoc.3350 · Cited by 7

The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings

GIORGIS, V. D., Varesio, C., Viri, M., Giordano, L., Piana, R. L., Tonduti, D., Roncarolo, F., Masnada, S., Pichiecchio, A., Veggiotti, P., et al. (2020) · Seizure · doi:10.1016/j.seizure.2020.11.019 · Cited by 7

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

Benzoni, C., Moscatelli, M. E. M., Farina, L., Magri, S., Ciano, C., Scaioli, V., Alverà, S., Cammarata, G., Bianchi‐Marzoli, S., Castellani, M., et al. (2023) · Journal of Neurology · doi:10.1007/s00415-023-11762-7 · Cited by 7

Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders

Stellingwerff, M. D., Al‐Saady, M. L., Chan, K., Dvorak, A. V., Marques, J. P., Kolind, S., Roosendaal, S. D., Wolf, N. I., Barkhof, F., van der Knaap, M. S., et al. (2023) · Journal of Neuroimaging · doi:10.1111/jon.13167 · Cited by 7

Xeno‐free culture for generation of forebrain oligodendrocyte precursor cells from human pluripotent stem cells

Hermanto, Y., Maki, T., Takagi, Y., Miyamoto, S., & Takahashi, J. B. (2019) · Journal of Neuroscience Research · doi:10.1002/jnr.24413 · Cited by 8

First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

Larsen, K. B., Bayat, A., Møller, R. S., Maroun, L. L., & Lund, E. L. (2019) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12557 · Cited by 7

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study

Rossi‐Espagnet, M. C., Lucignani, M., Pasquini, L., Napolitano, A., Stefano, P. R. O., Romano, A., Diodato, D., Martinelli, D., & Longo, D. (2019) · Neuroradiology · doi:10.1007/s00234-019-02302-0 · Cited by 7

Stem cell and gene therapies for leukodystrophies

Lin, W., Zhang, M., Zheng, S., & Lian, Q. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101527 · Cited by 7

Neuromitochondrial Disorders

Senthilvelan, S., Sekar, S., Kesavadas, C., & Thomas, B. (2021) · Clinical Neuroradiology · doi:10.1007/s00062-021-01030-4 · Cited by 6

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

Paprocka, J., Nowak, M., Machnikowska-Sokołowska, M. D., Rutkowska, K., & Płoski, R. (2024) · Genes · doi:10.3390/genes15030350 · Cited by 6

RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review

Biglari, S., Vahidnezhad, H., Tabatabaiefar, M. A., Khorshid, H. R. K., & Esmaeilzadeh, E. (2024) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2435 · Cited by 6

MRI pattern recognition in white matter disease

Wolf, N. I., Engelen, M., & van der Knaap, M. S. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00019-3 · Cited by 6

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity

Lin, D., & Ho, C. (2024) · Cells · doi:10.3390/cells13221873 · Cited by 6

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction

Mencacci, N. E., Minakaki, G., Maroofian, R., Pace, R. D., Paimboeuf, A., Fonseca, T. B., Abramova, T., Shannon, P., Chitayat, D. A., Magrinelli, F., et al. (2026) · Journal of Clinical Investigation · doi:10.1172/jci195336 · Cited by 6

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy

Ramachandran, S. S., Ardinger, J., Bu, J., Ramos, M., Guo, L., Ghosh, D., Hossain, M., Chou, S.-C., Chen, Y., Wischhof, E., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci185001 · Cited by 6

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

Stutterd, C., Vanderver, A. L., Lockhart, P. J., Helman, G., Pope, K., Uebergang, E., Love, C., Delatycki, M. B., Thorburn, D. R., Mackay, M. T., et al. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104551 · Cited by 6

A hypomyelinating leukodystrophy in German Shepherd dogs

Quitt, P. R., Brühschwein, A., Matiasek, K., Wielaender, F., Karkamo, V., Hytönen, M. K., Meyer‐Lindenberg, A., Dengler, B., Leeb, T., Lohi, H., et al. (2021) · Journal of Veterinary Internal Medicine · doi:10.1111/jvim.16085 · Cited by 6

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy

Yska, H. A. F., Stellingwerff, M. D., Roosendaal, S. D., Voermans, M. M. C., van der Knaap, M. S., Pouwels, P. J. W., & Engelen, M. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf371 · Cited by 5

Curing the brain: in search for new astrocyte-specific therapies

Verkhratsky, A., Lee, C. J., Chun, H., Göritz, C., Harkany, T., Lee, J., Lee, S., Lindskog, M., Koh, W., Mulder, J., et al. (2026) · Experimental & Molecular Medicine · doi:10.1038/s12276-026-01712-4 · Cited by 8

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Oikarainen, J. H., Knuutinen, O. A., Kangas, S. M., Rahikkala, E., Pokka, T. M.-L., Moilanen, J. S., Hinttala, R., Vieira, P., Uusimaa, J., & Suo-Palosaari, M. H. (2024) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.16036 · Cited by 5

Inherited white matter disorders: Hypomyelination (myelin disorders)

Perrier, S., Gauquelin, L., & Bernard, G. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00014-4 · Cited by 5

Expanding the Phenotype of NRROS ‐Related SENEBAC Syndrome

Srinivasan, V. M., Gowda, V. K., Markose, A. P., Kinhal, U. V., & Pandey, H. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63899 · Cited by 5

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

Stutterd, C., Kidd, A., Florkowski, C. M., Janus, E. D., Fanjul‐Fernández, M., Raizis, A. M., Wu, T. Y., Archer, J. S., Leventer, R. J., Amor, D. J., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62377 · Cited by 5

Does Risk of Hyperhomocysteinemia Depend on Thiol-Disulfide Exchange Reactions of Albumin and Homocysteine?

Coppo, L., Scheggi, S., DeMontis, G., Priora, R., Frosali, S., Margaritis, A., Summa, D., Giuseppe, D. D., Ulivelli, M., & Simplicio, P. D. (2022) · Antioxidants and Redox Signaling · doi:10.1089/ars.2021.0269 · Cited by 5

Leukodystrophies

Schrifl, U., Naidu, S., & Fatemi, A. S. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780199937837.003.0070

“Genetic leukodystrophies and leukoencephalopathies in a referral center”

Saldaña, D. G., Peregrino, K. G. E., de Montellano, D. J. D., & Woehrlen, M.-C. B. (2023) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2023.121845

Neuropathology of white matter disorders

Jaunmuktane, Z. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00011-9 · Cited by 1

Leukodystrophies—an overview

Engelen, M., & Wolf, N. I. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00074-1

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Ashrafi, M. R., Amanat, M., Garshasbi, M., Kameli, R., Nilipour, Y., Heidari, M., Rezaei, Z., & Tavasoli, A. R. (2020) · Figshare · doi:10.6084/m9.figshare.13078446