Works matching Leukodystrophy

Results: 2112

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations.

Published in:

Brain Pathology, 2009, v. 19, n. 1, p. 39, doi. 10.1111/j.1750-3639.2008.00163.x

By:

Freeman, Stefanie H.;
Hyman, Bradley T.;
Sims, Katherine B.;
Hedley-Whyte, E. T.;
Vossough, Arastoo;
Frosch, Matthew P.;
Schmahmann, Jeremy D.

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.622355

By:

Furukawa, Soma;
Kunii, Misako;
Doi, Hiroshi;
Kondo, Naohide;
Ogura, Aya;
Hirabuki, Koichi;
Itoh, Takayuki;
Matsumoto, Naomichi;
Tanaka, Fumiaki;
Katsuno, Masahisa;
Ito, Yasuhiro

Publication type:

Article

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

Published in:

2024

By:

Siori, Dimitra;
Vlachakis, Dimitrios;
Makrythanasis, Periklis;
Traeger-Synodinos, Joanne;
Veltra, Danai;
Kampouraki, Afrodite;
Chrousos, George P.

Publication type:

Case Study

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Published in:

Neuropsychiatric Disease & Treatment, 2021, v. 17, p. 1451, doi. 10.2147/NDT.S296424

By:

Zhang, Tongxia;
Yan, Chuanzhu;
Liu, Yiming;
Cao, Lili;
Ji, Kunqian;
Li, Duoling;
Chi, Lingyi;
Zhao, Yuying

Publication type:

Article

A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy.

Published in:

Romanian Journal of Neurology, 2022, v. 21, n. 2, p. 115, doi. 10.37897/RJN.2022.2.4

By:

Ahmed, Hakim Si;
Belarbi, Ouardia;
Daoudi, Smail;
Labauge, Pierre;
Carra-Dalliere, Clarisse;
Perrine, Schmitt;
Pauline, Sanchez;
Drunate, Séverine;
Cavé, Hélène

Publication type:

Article

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

Published in:

Neurology India, 2025, v. 73, n. 2, p. 325, doi. 10.4103/neurol-india.Neurol-India-D-24-00198

By:

Meena, Ankit Kumar;
Wander, Arvinder;
Mahesan, Aakash;
Kamila, Gautam;
Kumar, Atin;
Chakrabarty, Biswaroop;
Jauhari, Prashant;
Gulati, Sheffali

Publication type:

Article

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

Published in:

Clinical Neuropsychologist, 2024, v. 38, n. 5, p. 1272, doi. 10.1080/13854046.2023.2279697

By:

Haneda, Aya;
Hoots, Jennifer K.;
Hagy, Hannah A.;
Lacy, Maureen

Publication type:

Article

The Primary Microglial Leukodystrophies: A Review.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6341, doi. 10.3390/ijms23116341

By:

Ferrer, Isidro

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1254140

By:

Macintosh, Julia;
Perrier, Stefanie;
Pinard, Maxime;
Tran, Luan T.;
Guerrero, Kether;
Prasad, Chitra;
Prasad, Asuri N.;
Pastinen, Tomi;
Thiffault, Isabelle;
Coulombe, Benoit;
Bernard, Geneviève

Publication type:

Article

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324

By:

Muthusamy, Karthik;
Sivadasan, Ajith;
Dixon, Luke;
Sudhakar, Sniya;
Thomas, Maya;
Danda, Sumita;
Wszolek, Zbigniew K.;
Wierenga, Klaas;
Dhamija, Radhika;
Gavrilova, Ralitza

Publication type:

Article

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 6, p. 481, doi. 10.1007/s00401-004-0847-x

By:

Marotti, Jonathan D.;
Tobias, Sharon;
Fratkin, Jonathan D.;
Powers, James M.;
Rhodes, C. Harker

Publication type:

Article

Leucodistrofia metacromatică forma juvenilă: cazul unor surori gemene.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 67

By:

Nussbaum, Laura;
Wagentrist, Peter;
Corcheş, Axinia;
Ageu, Luminiţa;
Hogea, Lavinia;
Micu-Şerbu, Bianca;
Morariu, Daiana;
Dragoş, Doina;
Nussbaum, Liliana;
Todica, Andrei

Publication type:

Article

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.

Published in:

Frontiers in Cellular Neuroscience, 2021, p. N.PAG, doi. 10.3389/fncel.2020.631802

By:

Perrier, Stefanie;
Michell-Robinson, Mackenzie A.;
Bernard, Geneviève

Publication type:

Article

Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy.

Published in:

2015

By:

Wanner, Matthew;
Karmazyn, Boaz;
Fan, Rong;
Wanner, Matthew R

Publication type:

journal article

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.

Published in:

European Journal of Neurology, 2014, v. 21, n. 7, p. 983, doi. 10.1111/ene.12423

By:

Müller vom Hagen, J.;
Karle, K. N.;
Schüle, R.;
Krägeloh ‐ Mann, I.;
Schöls, L.

Publication type:

Article

Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale.

Published in:

Journal of Patient-Reported Outcomes, 2018, v. 2, n. 1, p. N.PAG, doi. 10.1186/s41687-018-0041-x

By:

Brown, T. Michelle;
Martin, Susan;
Fehnel, Sheri E.;
Deal, Linda S.

Publication type:

Article

Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy.

Published in:

Cells (2073-4409), 2020, v. 9, n. 5, p. 1124, doi. 10.3390/cells9051124

By:

Lin, Dar-Shong;
Ho, Che-Sheng;
Huang, Yu-Wen;
Wu, Tsu-Yen;
Lee, Tsung-Han;
Huang, Zo-Darr;
Wang, Tuan-Jen;
Yang, Shun-Jie;
Chiang, Ming-Fu

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel Á.;
Tran, Luan T.;
Benko, William;
van der Knaap, Marjo S.;
van Spaendonk, Rosalina M. L.;
Wolf, Nicole I.;
Bernard, Geneviève

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel Á.;
Tran, Luan T.;
Benko, William;
van der Knaap, Marjo S.;
van Spaendonk, Rosalina M. L.;
Wolf, Nicole I.;
Bernard, Geneviève

Publication type:

Article

Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3562, doi. 10.1093/brain/awae085

By:

Bergner, Caroline G;
Breur, Marjolein;
Soto-Bernardini, M Clara;
Schäfer, Lisa;
Lier, Julia;
Duc, Diana Le;
Bundalian, Linnaeus;
Schubert, Susanna;
Brenner, David;
Kreuz, Friedmar R;
Schulte, Björn;
Waisfisz, Quinten;
Bugiani, Marianna;
Köhler, Wolfgang;
Sticht, Heinrich;
Jamra, Rami Abou;
Knaap, Marjo S van der

Publication type:

Article

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5070, doi. 10.1093/brain/awad249

By:

Michell-Robinson, Mackenzie A;
Watt, Kristin E N;
Grouza, Vladimir;
Macintosh, Julia;
Pinard, Maxime;
Tuznik, Marius;
Chen, Xiaoru;
Darbelli, Lama;
Wu, Chia-Lun;
Perrier, Stefanie;
Chitsaz, Daryan;
Uccelli, Nonthué A;
Liu, Hanwen;
Cox, Timothy C;
Müller, Christoph W;
Kennedy, Timothy E;
Coulombe, Benoit;
Rudko, David A;
Trainor, Paul A;
Bernard, Geneviève

Publication type:

Article

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

Published in:

Medical Sciences, 2024, v. 12, n. 1, p. 7, doi. 10.3390/medsci12010007

By:

Thakkar, Rajvi N.;
Patel, Drashti;
Kioutchoukova, Ivelina P.;
Al-Bahou, Raja;
Reddy, Pranith;
Foster, Devon T.;
Lucke-Wold, Brandon

Publication type:

Article

Unrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.999919

By:

Ping Wang;
Xiaonan Du;
Quanli Shen;
Wenjin Jiang;
Chen Shen;
Hongsheng Wang;
Shuizhen Zhou;
Yi Wang;
Xiaowen Qian;
Xiaowen Zhai

Publication type:

Article

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Published in:

Journal of Neurosciences in Rural Practice, 2017, v. 8, p. 89, doi. 10.4103/jnrp.jnrp_511_16

By:

Amin, Mutaz;
Elsayed, Liena;
Ahmed, Ammar Eltahir

Publication type:

Article

Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

Published in:

European Journal of Neurology, 2002, v. 9, n. 6, p. 663, doi. 10.1046/j.1468-1331.2002.00469.x

By:

Verghese, J.;
Weidenheim, K.;
Malik, S.;
Rapin, I.

Publication type:

Article

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.

Published in:

Acta Paediatrica, 2008, p. 15, doi. 10.1111/j.1651-2227.2008.00648.x

By:

Gieselmann, Volkmar

Publication type:

Article

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

Published in:

2019

By:

Beerepoot, Shanice;
Nierkens, Stefan;
Boelens, Jaap Jan;
Lindemans, Caroline;
Bugiani, Marianna;
Wolf, Nicole I.

Publication type:

journal article

3D MR fingerprinting-derived myelin water fraction characterizing brain development and leukodystrophy.

Published in:

Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04788-y

By:

Kim, Hyun Gi;
Han, Dongyeob;
Kim, Jimin;
Choi, Jeong-Sun;
Cho, Kyung-Ok

Publication type:

Article

Dystonia in RNA Polymerase III‐Related Leukodystrophy.

Published in:

Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 155, doi. 10.1002/mdc3.12715

By:

Al Yazidi, Ghalia;
Tran, Luan T.;
Guerrero, Kether;
Vanderver, Adeline;
Schiffmann, Raphael;
Wolf, Nicole I.;
Chouinard, Sylvain;
Bernard, Geneviève

Publication type:

Article

AARS2-Related Leukodystrophy: a Case Report and Literature Review.

Published in:

Cerebellum, 2023, v. 22, n. 1, p. 59, doi. 10.1007/s12311-022-01369-5

By:

Zhang, Xiao;
Li, Jie;
Zhang, Yanyan;
Gao, Meina;
Peng, Tao;
Tian, Tian

Publication type:

Article

The neurovascular unit in leukodystrophies: towards solving the puzzle.

Published in:

Fluids & Barriers of the CNS, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12987-022-00316-0

By:

Zarekiani, Parand;
Nogueira Pinto, Henrique;
Hol, Elly M.;
Bugiani, Marianna;
de Vries, Helga E.

Publication type:

Article

A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy.

Published in:

2023

By:

Kocaaga, Ayca;
Yimenicioglu, Sevgi;
Bayav, Murat

Publication type:

Case Study

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

Published in:

Therapeutics & Clinical Risk Management, 2017, v. 13, p. 725, doi. 10.2147/TCRM.S119967

By:

Manshadi, Masoumeh Dehghan;
Kamalidehghan, Behnam;
Aryani, Omid;
Khalili, Elham;
Dadgar, Sepideh;
Tondar, Mahdi;
Ahmadipour, Fatemeh;
Goh Yong Meng;
Houshmand, Massoud

Publication type:

Article

Leukodystrophies due to astroyctic dysfunction.

Published in:

Brain Pathology, 2018, v. 28, n. 3, p. 369, doi. 10.1111/bpa.12607

By:

Bugiani, Marianna;
Breur, Marjolein

Publication type:

Article

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Published in:

Brain Pathology, 2018, v. 28, n. 3, p. 408, doi. 10.1111/bpa.12606

By:

Bugiani, Marianna;
Vuong, Caroline;
Breur, Marjolein;
van der Knaap, Marjo S.

Publication type:

Article

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

Published in:

2015

By:

Potic, Ana;
Popovic, Vera;
Ostojic, Jelena;
Pekic, Sandra;
Kozic, Dusko;
Guerrero, Kether;
Schiffmann, Raphael;
Bernard, Geneviève

Publication type:

Case Study

Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America.

Published in:

Genes, 2020, v. 11, n. 12, p. 1437, doi. 10.3390/genes11121437

By:

Vargas, Adriana;
Rojas, Jorge;
Aivasovsky, Ivan;
Vergara, Sergio;
Castellanos, Marianna;
Prieto, Carolina;
Celis, Luis

Publication type:

Article

Infantile Metachromatic Leukodystrophy: Case Report.

Published in:

2023

By:

Hamad, Salsabeel;
Abufara, Israa;
Zagharneh, Safaa;
Abureesh, Taimaa;
Jobran, Afnan W. M.

Publication type:

Case Study

Anaesthetic Concerns in a Case of Metachromatic Leukodystrophy.

Published in:

Sri Lankan Journal of Anaesthesiology, 2022, v. 30, n. 1, p. 82, doi. 10.4038/slja.v30i1.8691

By:

Mathew, Shaji;
Duggappa, Arun Kumar Handigodu;
Biradar, Jyothi;
Vaideeshwaran, Eeshwar Murali;
Muhamed, Shiyad

Publication type:

Article

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Published in:

Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x

By:

Srinivasan, Jayasri;
Coleman, Lee;
Kornberg, Andrew J.

Publication type:

Article

A rare case of late adult-onset leukodystrophy due to CSF1R mutation.

Published in:

2025

By:

Mekala, Anusha;
Kunkala, Lavanya;
Shanmugam, Sundar;
Ramesh, Rithvik;
Ranganathan, Lakshmi Narasimhan

Publication type:

Case Study

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice.

Published in:

Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-022-01644-8

By:

Pergande, Melissa R.;
Kang, Christina;
George, Diann;
Sutter, Pearl A.;
Crocker, Stephen J.;
Cologna, Stephanie M.;
Givogri, Maria I.

Publication type:

Article

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice.

Published in:

Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-022-01644-8

By:

Pergande, Melissa R.;
Kang, Christina;
George, Diann;
Sutter, Pearl A.;
Crocker, Stephen J.;
Cologna, Stephanie M.;
Givogri, Maria I.

Publication type:

Article

Adolescent/Adult‑Onset Leukodystrophy with MTHFR Deficiency – A Treatable Cause.

Published in:

Neurology India, 2023, v. 71, n. 2, p. 326, doi. 10.4103/0028-3886.375409

By:

Kumar, N. Hemanth;
Mounika, K. Joy;
Sundarachary, N. V.

Publication type:

Article

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

Published in:

Brain & Behavior, 2019, v. 9, n. 7, p. N.PAG, doi. 10.1002/brb3.1313

By:

Wang, Jian‐Yong;
Chen, Song‐Fang;
Zhang, Hong‐Qiu;
Wang, Meng‐Yan;
Zhu, Jian‐Hong;
Zhang, Xiong

Publication type:

Article

Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes.

Published in:

Neurology International, 2025, v. 17, n. 2, p. 28, doi. 10.3390/neurolint17020028

By:

Jauregui, Ruben;
Garcia, Mekka R.;
Mehuron, Thomas;
Galetta, Steven L.;
Segal, Devorah

Publication type:

Article

Glucose metabolism in the brain in LMNB1‐related autosomal dominant leukodystrophy.

Published in:

Acta Neurologica Scandinavica, 2019, v. 139, n. 2, p. 135, doi. 10.1111/ane.13024

By:

Finnsson, Johannes;
Lubberink, Mark;
Savitcheva, Irina;
Fällmar, David;
Melberg, Atle;
Kumlien, Eva;
Raininko, Raili

Publication type:

Article

Seizures as a presenting feature of late onset metachromatic leukodystrophy.

Published in:

Acta Neurologica Scandinavica, 2000, v. 102, n. 3, p. 192, doi. 10.1034/j.1600-0404.2000.102003192.x

By:

Bostantjopoulou, S.;
Katsarou, Z.;
Michelakaki, H.;
Kazis, A.

Publication type:

Article

LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature.

Published in:

Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01030

By:

Zhang, Yanyan;
Li, Jie;
Bai, Rong;
Wang, Jianping;
Peng, Tao;
Chen, Lijie;
Wang, Jingtao;
Liu, Yanru;
Tian, Tian;
Lu, Hong

Publication type:

Article

Update on leukodystrophies and developing trials.

Published in:

Journal of Neurology, 2024, v. 271, n. 1, p. 593, doi. 10.1007/s00415-023-11996-5

By:

Ceravolo, Giorgia;
Zhelcheska, Kristina;
Squadrito, Violetta;
Pellerin, David;
Gitto, Eloisa;
Hartley, Louise;
Houlden, Henry

Publication type:

Article