Globoid Cell Leukodystrophy (Krabbe Disease): An Update by Maghazachi AA

Subjects: Get full text

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy by Mohamed H. Farah, Christine í Dali, Samuel Groeschel, Mihai Moldovan, David A. H. Whiteman, C. J. Malanga, Ingeborg Krägeloh‐Mann, Jing Li, Norman Barton, Christian Krarup

“…Abstract Objective To evaluate the longitudinal correlations between sulfatide/lysosulfatide levels and central and peripheral nervous system function in children with metachromatic leukodystrophy (MLD) and to explore the impact of intravenous recombinant human arylsulfatase A (rhASA) treatment on myelin turnover. …”
Get full text

Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy by Taly AB, Santosh V, Balamurugan N, Arunodaya GR, Christopher R, Jayakumar PN

“…However, intellectual deterioration during follow up, evidence of extensive, symmetrical and periventricular demyelination on MRI of brain and metachromatic on sural nerve biopsy led to the diagnosis of metachromatic leukodystrophy (MLD). Inherited neuropathies such as MLD may occasionally present atypically in the early stages. …”
Get full text

Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy by Rebekka Kohlmann, Karin Barenberg, Agnes Anders, Sören G. Gatermann

Subjects: Get full text

Glial cells in the driver seat of leukodystrophy pathogenesis by Luis M. Garcia, Julia L. Hacker, Sunetra Sase, Laura Adang, Akshata Almad

Subjects: “…Leukodystrophy…”
Get full text

Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy by Dar-Shong Lin, Che-Sheng Ho, Yu-Wen Huang, Tsu-Yen Wu, Tsung-Han Lee, Zo-Darr Huang, Tuan-Jen Wang, Shun-Jie Yang, Ming-Fu Chiang

Subjects: “…leukodystrophies…”
Get full text

Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies by Catarina Oliveira Miranda, Pedro Brites, Mónica Mendes Sousa, Carla Andreia Teixeira

“…Currently, there is no cure for leukodystrophies, and the development of effective treatments remains challenging. …”
Get full text

BPTF-associated Neurodevelopmental Disorder Masquerading as Leukodystrophy by Anmol Bansal, Arvinder Wander, Ankit Kumar Meena, Sameer Peer, Puneet Kumar Choudhary

Get full text

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs) by Tomohiro Torii, Junji Yamauchi

Subjects: Get full text

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction by Nicole I. Wolf, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. vanRappard, Sharon I. deVries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van derKnaap, Caroline A. Lindemans, Peter M. vanHasselt, Jaap J. Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani

“…This is the first study to define the effects and therapeutic mechanisms of hematopoietic stem cell transplantation on brain tissue of transplanted metachromatic leukodystrophy patients. Methods Autopsy brain tissue was obtained from eight (two transplanted and six nontransplanted) metachromatic leukodystrophy patients, and two age‐matched controls. …”
Get full text

Adult-Onset Metachromatic Leukodystrophy: Two Cases by Gaye Eryaşar, Yeşim Beckmann, Yaprak Seçil

Subjects: “…Leukodystrophy…”
Get full text

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) by Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf

Subjects: Get full text

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum by Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf

“…Abstract Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1‐related disease, and to identify possible genotype‐phenotype relationships. …”
Get full text

Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina by Quasar S. Padiath

Subjects: Get full text

Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL by Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira

Get full text

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report by Rachele Simeon, Anna Berardi, Donatella Valente, Tiziana Volpi, Samuele Vagni, Giovanni Galeoto

Subjects: Get full text

Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis by Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa

“…To the authors' knowledge, obstructive extra-hepatic biliary tree polypoid masses and cystic dilation with metachromatic leukodystrophy have not previously been reported. Keywords: Metachromatic leukodystrophy, Gallbladder papillomatosis, Choledochal cysts…”
Get full text

A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY by Muhammad Mohsin Sajjad, Sidra Yousaf

Subjects: Get full text

Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy by Mitra Assadi, Dah-Jyuu Wang, Yadira Velazquez-Rodriquez, Paola Leone

Get full text

TSEN54 missense variant in Standard Schnauzers with leukodystrophy. by Theresa Störk, Jasmin Nessler, Linda Anderegg, Enrice Hünerfauth, Isabelle Schmutz, Vidhya Jagannathan, Kaisa Kyöstilä, Hannes Lohi, Wolfgang Baumgärtner, Andrea Tipold, Tosso Leeb

“…The genotypes at the c.371G>A variant were perfectly associated with the leukodystrophy phenotype in 12 affected Standard Schnauzers and almost 1000 control dogs from different breeds. …”
Get full text