Works matching Leukodystrophy

Results: 2094

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Published in:

2004

By:

Goizet, Cyril;
Coupry, Isabelle;
Rooryck, Caroline;
Taine, Laurence;
Dormoy, Virginie;
Lacombe, Didier;
Arveiler, Benoît

Publication type:

Report

Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigations.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00393-2

By:

Akbari, Maryam;
Ebrahimi Tapeh, Zeinab;
Zaersabet, Mona;
Rahimi, Hamzeh;
Ganji, Maziar

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

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

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

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

Two rare cases of myelin oligodendrocyte glycoprotein antibody-associated disorder in children with leukodystrophy-like imaging findings.

Published in:

2023

By:

Wang, Xin;
Zhao, Ruibin;
Yang, Huafang;
Liu, Chong;
Zhao, Qing

Publication type:

Case Study

Pathology of the neurovascular unit in leukodystrophies.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01206-6

By:

Zarekiani, Parand;
Breur, Marjolein;
Wolf, Nicole I.;
de Vries, Helga E.;
van der Knaap, Marjo S.;
Bugiani, Marianna

Publication type:

Article

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.

Published in:

Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01321

By:

Wang, Xingao;
Wang, Qun;
Tang, Hefei;
Chen, Bin;
Dong, Xiang;
Niu, Songtao;
Li, Shaowu;
Shi, Yuzhi;
Shan, Wei;
Zhang, Zaiqiang

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

Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 228, doi. 10.2350/14-09-1551-CR.1

By:

MCFADDEN, KATHRYN;
RANGANATHAN, SARANGARAJAN

Publication type:

Article

Diffusion-weighted MR imaging in leukodystrophies.

Published in:

2005

By:

Patay, Zoltan

Publication type:

journal 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 natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.

Published in:

European Journal of Medical Research, 2024, p. 1, doi. 10.1186/s40001-024-01771-1

By:

Chang, Shun-Chiao;
Eichinger, Christian Stefan;
Field, Polly

Publication type:

Article

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.

Published in:

Neuropathology, 2012, v. 32, n. 3, p. 285, doi. 10.1111/j.1440-1789.2011.01257.x

By:

Martinez-Saez, Elena;
Shah, Sachit;
Costa, Carme;
Fleminger, Simon;
Connor, Stephen;
Bodi, Istvan

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1355484

By:

Jing Liu;
Yue Niu;
Jiong Qin;
Zhixian Yang

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

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

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.

Published in:

Clinical Genetics, 2005, v. 68, n. 1, p. 48, doi. 10.1111/j.1399-0004.2005.00451.x

By:

Ługowska, A.;
Berger, J.;
Tylki-Szymańska, A.;
Löschl, B.;
Molzer, B.;
Zobel, M.;
Czartoryska, B.

Publication type:

Article

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).

Published in:

2022

By:

Schoenmakers, Daphne H.;
Beerepoot, Shanice;
van den Berg, Sibren;
Adang, Laura;
Bley, Annette;
Boelens, Jaap-Jan;
Fumagalli, Francesca;
Goettsch, Wim G.;
Grønborg, Sabine;
Groeschel, Samuel;
van Hasselt, Peter M.;
Hollak, Carla E. M.;
Lindemans, Caroline;
Mochel, Fanny;
Mol, Peter G. M.;
Sevin, Caroline;
Zerem, Ayelet;
Schöls, Ludger;
Wolf, Nicole I.

Publication type:

journal article

Cortical interneuron development is affected in 4H leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2846, doi. 10.1093/brain/awad017

By:

Dooves, Stephanie;
Kok, Liza M L;
Holmes, Dwayne B;
Breeuwsma, Nicole;
Breur, Marjolein;
Bugiani, Marianna;
Wolf, Nicole I;
Heine, Vivi M

Publication type:

Article

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295

By:

Rosario, Michelle C do;
Bey, Guillermo Rodriguez;
Nmezi, Bruce;
Liu, Fang;
Oranburg, Talia;
Cohen, Ana S A;
Coffman, Keith A;
Brown, Maya R;
Kiselyov, Kirill;
Waisfisz, Quinten;
Flohil, Myrthe T;
Siddiqui, Shahyan;
Rosenfeld, Jill A;
Iglesias, Alejandro;
Girisha, Katta Mohan;
Wolf, Nicole I;
Padiath, Quasar Saleem;
Shukla, Anju

Publication type:

Article

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Published in:

2021

By:

Sferra, Antonella;
Fortugno, Paola;
Motta, Marialetizia;
Aiello, Chiara;
Petrini, Stefania;
Ciolfi, Andrea;
Cipressa, Francesca;
Moroni, Isabella;
Leuzzi, Vincenzo;
Pieroni, Luisa;
Marini, Federica;
Tanguy, Odile Boespflug;
Eymard-Pierre, Eleonore;
Danti, Federica Rachele;
Compagnucci, Claudia;
Zambruno, Giovanna;
Brusco, Alfredo;
Santorelli, Filippo M;
Chiapparini, Luisa;
Francalanci, Paola

Publication type:

journal article

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.

Published in:

2017

By:

Dorboz, Imen;
Aiello, Chiara;
Simons, Cas;
Thompson Stone, Robert;
Niceta, Marcello;
Elmaleh, Monique;
Abuawad, Mohammad;
Doummar, Diane;
Bruselles, Alessandro;
Wolf, Nicole I.;
Travaglini, Lorena;
Boespflug-Tanguy, Odile;
Tartaglia, Marco;
Vanderver, Adeline;
Rodriguez, Diana;
Bertini, Enrico;
Stone, Robert Thompson

Publication type:

journal article

Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.

Published in:

2017

By:

Georgiou, Elena;
Sidiropoulou, Kyriaki;
Richter, Jan;
Papaneophytou, Christos;
Sargiannidou, Irene;
Kagiava, Alexia;
von Jonquieres, Georg;
Christodoulou, Christina;
Klugmann, Matthias;
Kleopa, Kleopas A.

Publication type:

journal article