Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis

Autor: Philip Höflinger, Stefan Hauser, Eylan Yutuc, Holger Hengel, Lauren Griffiths, Florentine Radelfahr, Owain W. Howell, Yuqin Wang, Sonja L. Connor, P. Barton Duell, Andrea E. DeBarber, Peter Martus, Dieter Lütjohann, William J. Griffiths, Ludger Schöls

Publikováno v: Journal of Lipid Research, Vol 62, Iss , Pp 100078- (2021)

Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aime

Externí odkaz: https://doaj.org/article/41d7e6fd58f7466ca39ad0e0f6bfc8e4

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Autor: Thomas Klopstock, M. Fichera, Francisco Javier Rodríguez de Rivera Garrido, Caterina Mariotti, Almut Turid Bischoff, Claudia Stendel, Christian Hohenfeld, Alexandra Durr, Anna Castaldo, Ilaria Giordano, Stefanie N. Hayer, Alessia Mongelli, Marie Lorraine Monin, Massimo Pandolfo, Kathrin Reetz, Katarina Manso, Gessica Vasco, Mar O'Callaghan, Nita Solanky, Matthias Amprosi, Claire Ewenczyk, Florian Holtbernd, Wolfgang Nachbauer, Sylvia Boesch, Enrico Bertini, Francesc Palau, Cinzia Gellera, Elisabetta Indelicato, Florentine Radelfahr, Imis Dogan, Marianthi Breza, Ludger Schöls, Christian Rummey, Michael H Parkinson, Andreas Eigentler, Jörg B. Schulz, Lorenzo Nanetti, Claire Didszun, Paola Giunti, Gilbert Thomas-Black, Nikolina Brcina, Marie Biet, Ralf-Dieter Hilgers, Robyn Labrum, Thomas Klockgether, Myriam Rai, Georgios Koutsis

Publikováno v: The lancet / Neurology 20(5), 362-372 (2021). doi:10.1016/S1474-4422(21)00027-2

Summary Background The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e639b3686431e2707c99907b08121ea

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Autor: Andrea Bevot, Diana Chiang, Laurence Colleaux, Christian A. Hübner, Hans Hartmann, Zhao-Qi Wang, Tobias B. Haack, Ralf A. Husain, J. Christopher Hennings, Kevin Rostasy, Michael C. Kruer, Hossein Darvish, Olaf Riess, Andy Cheuk Him Ng, Marion Döbler-Neumann, Tim M. Strom, Lucia Laugwitz, Johannes A. Mayr, Thomas Klopstock, Xenia Kobeleva, René G. Feichtinger, Saghar Ghasemi Firouzabadi, Rebecca Buchert, Amelie J. Müller, Matias Wagner, Antje K. Huebner, Shrikant Mane, Marcus Deschauer, Ingeborg Krägeloh-Mann, Abdelkrim Saadi, Ulrich Brandl, Penelope E. Bonnen, Christian Marx, Isabell Cordts, Thomas Klockgether, Abbas Tafakhori, Thomas Meitinger, Florentine Radelfahr, Arnaud Besse, Mona Grimmel, Marc Sturm, Saskia B. Wortmann, Somayeh Bakhtiari, Francois V. Bolduc, Stefanie Beck-Woedl, Thomas Nägele

Publikováno v: The American journal of human genetics 107(2), 364-373 (2020). doi:10.1016/j.ajhg.2020.06.015
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.364-373. ⟨10.1016/j.ajhg.2020.06.015⟩
Am J Hum Genet
Am. J. Hum. Genet. 107, 364-373 (2020)

International audience; We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a protein of unknown function with seq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03a6b1699a506f1613e8922c058bf730

[Mitochondrial diseases]

Autor: Florentine, Radelfahr, Thomas, Klopstock

Publikováno v: Der Nervenarzt. 90(2)

Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3da39e467ce08fde9ece90eae40bf4aa
https://pubmed.ncbi.nlm.nih.gov/30643957

Intrathecal anti‐ CD 20 efficiently depletes meningeal B cells in CNS autoimmunity

Autor: Silke Kinzel, Claude C.A. Bernard, Sarah Traffehn, Bernhard Hemmer, Linda Feldmann, Klaus Lehmann-Horn, Christine Stadelmann, Wolfgang Brück, Martin S. Weber, Florentine Radelfahr

Publikováno v: Annals of Clinical and Translational Neurology

Clinical trials revealed that systemic administration of B-cell-depleting anti-CD20 antibodies can hold lesion formation in the early relapsing-remitting phase of multiple sclerosis (MS). Throughout the secondary-progressive (SP) course of MS, pathog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54106d7d51e1c1252789191f8a86bb34
https://doi.org/10.1002/acn3.71