FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Autor: Jonathan Baets, Adolfo López de Munain, Maria Grazia D'Angelo, Tobias Lindig, Marion Döbler-Neumann, Rebecca Schüle, Jennifer Reichbauer, Anne S. Söhn, Martine Debyser, Alexander Münchau, Tim W. Rattay, Stephan Züchner, Barbara Plecko, Tine Deconinck, Peter De Jonghe, Maria Teresa Bassi, Ludger Schöls, Ingeborg Krägeloh-Mann, Katrien Smets, Marc Janauschek, Kathrin N. Eckstein, Anne-Katrin Giese, Konstanze Hörtnagel, Bernd Wilken, Jan De Bleecker, Els Ortibus, Sarah Wiethoff, Aurora Pujol, Michaela Auer-Grumbach, Peter Bauer

Publikováno v: Brain
Brain 142(6), 1561-1572 (2019). doi:10.1093/brain/awz102

The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d6c0ffce84188cdd05f2f64dd70fb49
https://europepmc.org/articles/PMC6536916/

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Autor: Constanze Gallenmüller, Mona Mustafa, Rebecca Schüle, Tobias B. Haack, Martin Schulze, Daniela Di Bella, Michel Koenig, Thomas Klopstock, Marc Sturm, Michael A. Gonzalez, Elisa Sarto, Dagmar Timmann, Stefania Magri, Alexandra Durr, Matthis Synofzik, Peter Bauer, Ludger Schöls, Martial Mallaret, Christine Tranchant, Stephan Züchner, Mathieu Anheim, Katrien Smets, Tine Deconinck, Wahiba Hamza, Lorenzo Nanetti, Franco Taroni, Peter De Jonghe, Claudia Stendel, Caterina Mariotti, Jonathan Baets

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2016, 139 (5), pp.1378-1393. ⟨10.1093/brain/aww079⟩
Brain 139(5), 1378-1393 (2016). doi:10.1093/brain/aww079
Brain-A Journal of Neurology, Oxford University Press (OUP), 2016, 139 (5), pp.1378-1393. ⟨10.1093/brain/aww079⟩
Brain 139, 1378-1393 (2016)
Brain

Mutations in SYNE1, which encodes 'synaptic nuclear envelope protein 1', are reported to cause a relatively pure cerebellar ataxia largely limited to Quebec. By combining next-generation sequencing and deep phenotyping, however, Synofzik et al. revea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd01ed14b728cef943e57533c6fe04fa
https://hal.science/hal-01871789

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome

Autor: Wojciech Rypniewski, Ryszard Kierzek, Wlodzimierz J. Krzyzosiak, Agnieszka Kiliszek

Publikováno v: Nucleic Acids Research
Nucleic acids research 39(16), 7308-7315 (2011). doi:10.1093/nar/gkr368

The CGG repeats are present in the 5'-untranslated region (5'-UTR) of the fragile X mental retardation gene FMR1 and are associated with two diseases: fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X syndrome (FXS). FXTAS occurs when

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9686894268d7ce527639d90216fd281
https://doi.org/10.1093/nar/gkr368

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Autor: Tobias B. Haack, Didier Hannequin, Amjad Farooq, Michael A. Gonzalez, Tim M. Strom, Adriana P. Rebelo, Alexandra Durr, Wilson Marques, Christoph Kernstock, Charles Marques Lourenço, Stephan Züchner, Ludger Schöls, Holger Prokisch, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, Marcos M. Lima-Martínez, Marie Coutelier

Publikováno v: Brain 137(1), 69-77 (2013). doi:10.1093/brain/awt326
Brain 137, 69-77 (2014)

Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc5563b1b758ece4aee6062e1bc1bbd