TreatHSP.net - Translational Research on Hereditary Spastic Paraplegias
What are Hereditary Spastic Paraplegias?
Hereditary Spastic Paraplegias (HSP) are clinically and genetically highly heterogeneous neurodegenerative disorders primarily affecting the long axons of the corticospinal tract, leading to progressive lower limb spasticity and weakness. Implementation of causal treatment options is hampered by the genetic and pathophysiological heterogeneity that leads to fragmentation of research efforts.
Joint research network: TreatHSP.net
TreatHSP.net will therefore concentrate its translation-oriented research approach on pathophysiological key pathways of HSP (mitochondrial – ER/microtubule-related – endo-lyso-autophagosomal related) that unify multiple and frequent forms of HSP. To make substantial progress towards implementation of novel therapies TreatHSP.net will (i) generate a shared infrastructure that provides federated access to clinical data, biological samples and OMICS data for TreatHSP.net and beyond, (ii) systematically develop and validate outcome parameters for clinical trials including sensor-based, patient- and caregiver-reported as well as molecular outcomes, (iii) use unbiased high-throughput approaches in murine as well as stem cell-derived human models of HSP to identify shared pathways and novel therapeutic targets, and (iv) prioritize drug-repurposing strategies to evaluate novel therapeutic approaches in preclinical trials that promise rapid translatability to human trials.
Experts of TreatHSP.net are actively involved in the European Reference Network on Neurological Diseases (ERN-RND).
Projects- Coordination unit, central infrastructure and Adaptive Outcome Validation Platform of TreatHSP: Prof. Dr. Rebecca Schüle, University Hospital Heidelberg l and Faculty of Medicine and Prof. Dr. Stephan Ossowski (Co-Investigator), Eberhard Karls University Tübingen – University Hospital and Faculty of Medicine.
- Mobile gait analysis to classify HSP-specific gait phenotypes and individualize symptomatic treatment of HSP: PD Dr. Heiko Gaßner and Prof. Dr. Jürgen Winkler, Universitätsklinikum Erlangen.
- Exploring the pathogenic and therapeutic impact of lipid homeostasis in SPG4 and SPG31 using iPSC-based neural models: Prof. Dr. Ludger Schöls and Dr. Stefan Hauser, University of Tübingen – German Center for Neurodegenerative Diseases (DZNE).
- The role of PI4K2A in autophagy and HSP: Prof. Dr. Christian Hübner, Jena University Hospital.
- Development of an antisense oligonucleotide RNA therapeutic approach for POLR3A-associated HSP (HSP-POLR3A): Prof. Dr. Rebecca Schüle, University Hospital Heidelberg and Prof. Dr. Stephan Ossowski, Eberhard Karls University Tübingen – University Hospital and Faculty of Medicine.
- Linking dopaminergic degeneration and lysosomal dysfunction in SPG11/SPG15: PD Dr. Martin Regensburger and Prof. Dr. Beate Winner, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) – Universitätsklinikum Erlangen.
- Therapeutic avenues for HSP caused by mutations in SPG7: targeting NAD metabolism and inflammation: Prof. Dr. Elena Rugarli, University of Cologne.
- Neuroinflammation in SPG11: translational relevance and biomarkers: PD Dr. Janos Groh, Technical University Munich
Universitätsklinikum Heidelberg
Neurologische Klinik
Abteilung Neurodegenerative Erkrankungen
Im Neuenheimer Feld 400
69120 Heidelberg
Tel. +49 6221 56-310173
E-Mail: Rebecca.Schuele(at)uni-heidelberg.de; Rebecca.schuele-freyer(at)med.uni-heidelberg.de
Website: www.treathsp.net
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14. August 2024 (TreatHSP.net)
Alpha-synuclein fine-tunes neuronal response to pro-inflammatory cytokinesBrain Behav Immun. 2024 Aug 14. >>Pubmed-Link<<
Veronika Sigutova, Wei Xiang, Martin Regensburger, Beate Winner, Iryna Prots
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4. June 2024 (TreatHSP.net)
Late-onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/DAnn Clin Transl Neurol. 2024 Jun 4. >>Pubmed-Link<<
Rebecca Mächtel, Jan-Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
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26. April 2024 (TreatHSP.net)
Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 – Implications for Novel Treatment Strategies in Gaucher’s and Parkinson’s DiseaseAdv Sci (Weinh). 2024 Apr 26. >>PubMed-Link<<
Jan Philipp Dobert, Simon Bub, Rebecca Mächtel, Dovile Januliene, Lisa Steger, Martin Regensburger, Sibylle Wilfling, Jia-Xuan Chen, Mario Dejung, Sonja Plötz, Ute Hehr, Arne Moeller, Philipp Arnold, Friederike Zunke
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1. April 2024 (TreatHSP.net)
An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell linesStem Cell Res. 2024 Apr. >>PubMed-Link<<
Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle
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20. March 2024 (TreatHSP.net)
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important ChangeMov Disord. 2024 Mar 20. >>PubMed-Link<<
Andreas Traschütz, Zofia Fleszar, Holger Hengel, Thomas Klockgether, Friedrich Erdlenbruch, Björn H Falkenburger, Thomas Klopstock, Özgür Öztop-Çakmak, José Luiz Pedroso, Filippo M Santorelli, Ludger Schöls; RFC1 Study Group, PREPARE Consortium; Matthis Synofzik
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5. March 2024 (TreatHSP.net)
Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editingStem Cell Res. 2024 Mar 5. >>PubMed-Link<<
M Korneck, A Leonhardt, L Schöls, S Hauser
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21. February 2024 (TreatHSP.net)
Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic ParaplegiaMov Disord. 2024 Feb 21. >>PubMed-Link<<
Laura Krumm, Jürgen Winkler, Beate Winner, Martin Regensburger
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16. February 2024 (TreatHSP.net)
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11Front Neurosci. 2024 Feb 16. >>PubMed-Link<<
Michaela Hörner, Sandy Popp, Julien Branchu, Giovanni Stevanin, Frédéric Darios, Stephan Klebe, Janos Groh, Rudolf Martini
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13. February 2024 (TreatHSP.net)
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesOrphanet J Rare Dis. 2024 Feb 13. >>PubMed-Link<<
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
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2. February 2024 (TreatHSP.net)
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patientsActa Neuropathol. 2024 Feb 2. >>PubMed-Link<<
Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn Scherpelz, Marie Y Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A Hübner, Markus J Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger
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1. January 2024 (TreatHSP.net)
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsEBioMedicine. 2024 Jan. >>PubMed-Link<<
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
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20. December 2023 (TreatHSP.net)
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)Genes (Basel). 2023 Dec 20. >>PubMed-Link<<
Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger
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31. October 2023 (TreatHSP.net)
The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cellsRNA. 2022 Oct 31. >>PubMed-Link<<
Maike Nagel, Marvin Noss, Jishu Xu, Nicola Horn, Marius Ueffing, Karsten Boldt, Rebecca Schüle
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3. October 2023 (TreatHSP.net)
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiencyBrain. 2023 Oct 3. >>PubMed-Link<<
Carolina Montoro-Gámez, Hendrik Nolte, Thibaut Molinié, Giovanna Evangelista, Simon E Tröder, Esther Barth, Milica Popovic, Aleksandra Trifunovic, Branko Zevnik, Thomas Langer, Elena I Rugarli
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29. August 2023 (TreatHSP.net)
Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learningOrphanet J Rare Dis. 2023 Aug 29. >>PubMed-Link<<
Malte Ollenschläger, Patrick Höfner, Martin Ullrich, Felix Kluge, Teresa Greinwalder, Evelyn Loris, Martin Regensburger, Bjoern M Eskofier, Jürgen Winkler, Heiko Gaßner
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1. June 2023 (TreatHSP.net)
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagyNature. 2023 Jun. >>PubMed-Link<<
Hector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, Hartmut T Bocker, Alexis González, Eric Seemann, Patricia Franzka, Andrea Bock, Ramachandra M Bhaskara, Lutz Liebmann, Marina E Hoffmann, Istvan Katona, Nicole Koch, Joachim Weis, Ingo Kurth, Joseph G Gleeson, Fulvio Reggiori, Gerhard Hummer, Michael M Kessels, Britta Qualmann, Muriel Mari, Ivan Dikić, Christian A Hübner
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27. May 2023 (TreatHSP.net)
Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patientsAnn Neurol. 2023 May 27. >>PubMed-Link<<
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Hasmet A Hanagasi, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers, PREPARE consortium, Matthis Synofzik
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27. May 2023 (TreatHSP.net)
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia PatientsAnn Neurol. 2023 May 27. >>PubMed-Link<<
Andreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, Jonathan Baets, BernardBrais , Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Haşmet A Hanağası, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers; PREPARE Consortium; Matthis Synofzik
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8. May 2023 (TreatHSP.net)
Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurographyEur J Neurol. 2023 May 8. >>PubMed-Link<<
Heike Jacobi, Markus Weiler, Georges Sam, Sabine Heiland, John M Hayes, Martin Bendszus, Rebecca Schüle, Jennifer C Hayes
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7. April 2023 (TreatHSP.net)
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 PatientsMov Disord. 2023 Apr 7. >>PubMed-Link<<
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Björn H Falkenburger, Janina Gburek-Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe-Einsler, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Chiara Pane, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Dagmar Timmann, Stefan Vielhaber, Tobias B Haack, Bart P van de Warrenburg, Ginevra Zanni, Matthis Synofzik
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15. March 2023 (TreatHSP.net)
Role of the adipocyte immune brain axis in Parkinson’s disease: friend or foe?Neural Regen Res. 2023 Nov (online 2023 March 15) >>PubMed-Link<<
Martin Regensburger, Thomas M Kinfe
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3. March 2023 (TreatHSP.net)
Monogenetic Forms of Parkinson’s Disease – Bridging the Gap Between Genetics and BiomarkersFront Aging Neurosci. 2022 Mar 3. >>PubMed-Link<<
Lars Tönges, Eun Hae Kwon, Stephan Klebe
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12. January 2023 (TreatHSP.net)
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaN Engl J Med. 2023 Jan 12. >>PubMed-Link<<
David Pellerin, Matt C Danzi, Carlo Wilke, …, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Marie-Josée Dicaire, Carolin K Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A Sonnen, Roxanne Larivière, David Genís, Laura Molina Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard-Chamard, Martine Tétreault, Sarah J Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin H Chalk, Anne-Louise Lafontaine, François Evoy, Marie-France Rioux, Jiannis Ragoussis, Kym M Boycott, Marie-Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G Laing, Phillipa J Lamont, Mario A Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
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9. January 2023 (TreatHSP.net)
Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegiaAnn Clin Transl Neurol. 2023 Jan 9. >>PubMed-Link<<
Evelyn Loris, Malte Ollenschläger, Teresa Greinwalder, Björn Eskofier, Jürgen Winkler, Heiko Gaßner, Martin Regensburger
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1. January 2023 (TreatHSP.net)
Emerging roles of leptin in Parkinson’s disease: Chronic inflammation, neuroprotection and more?Brain Behav Immun. 2023 Jan. >>PubMed-Link<<
Martin Regensburger, Shafqat Rasul Chaudhry, Hammad Yasin, Yining Zhao, Andreas Stadlbauer, Michael Buchfelder, Thomas Kinfe
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1. December 2022 (TreatHSP.net)
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 StudyMov Disord. 2022 Dec. >>PubMed-Link<<
Christian Laßmann, Winfried Ilg, Marc Schneider, Maximilian Völker, Daniel F B Haeufle, Rebecca Schüle, Martin Giese, Matthis Synofzik, Ludger Schöls, Tim W Rattay
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1. December 2022 (TreatHSP.net)
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron diseaseGenet Med. 2022 Dec. >>PubMed-Link<<
Adriana P Rebelo, Ariel Ruiz, Maike F Dohrn, Melanie Wayand, Amjad Farooq, Matt C Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, Leslie Matalonga, Lisa Abreu, Guy Rouleau, Mehrdad A Estiar, Liedewei Van de Vondel, Ziv Gan-Or, Jonathan Baets, Rebecca Schüle, Stephan Zuchner
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15. November 2022 (TreatHSP.net)
The Effects of an Individualized Smartphone-Based Exercise Program on Self-defined Motor Tasks in Parkinson Disease: Pilot Interventional StudyJMIR Rehabil Assist Technol. 2022 Nov 15. >>PubMed-Link<<
Heiko Gaßner, Jana Friedrich, Alisa Masuch, Jelena Jukic, Sabine Stallforth, Martin Regensburger, Franz Marxreiter, Jürgen Winkler, Jochen Klucken
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13. November 2022 (TreatHSP.net)
Neurometabolic Dysfunction in SPG11 Hereditary Spastic ParaplegiaNutrients. 2022 Nov 13. >>PubMed-Link<<
Martin Regensburger, Laura Krumm, Manuel Alexander Schmidt, Andreas Schmid, Imke Tabea Spatz, Dominique Cornelius Marterstock, Christoph Kopp, Zacharias Kohl, Arnd Doerfler, Thomas Karrasch, Beate Winner, Jürgen Winkler
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10. November 2022 (TreatHSP.net)
An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neuronsNat Commun. 2022 Nov 10. >>PubMed-Link<<
Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiss, Ioannis Lingos, Stephanie Reischl, Holger Meixner, Sonja Ploetz, Michaela Farrell, Ute Hehr, Zacharias Kohl, Beate Winner, Juergen Winkler
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3. November 2022 (TreatHSP.net)
Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4Int J Mol Sci. 2022 Nov 3. >>PubMed-Link<<
Christoph Kessler, Christoph Ruschil, Ahmed Abdelhak, Carlo Wilke, Aleksandra Maleska, Jens Kuhle, Markus Krumbholz, Markus C Kowarik, Rebecca Schüle
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23. August 2022 (TreatHSP.net)
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunctionHum Mol Genet. 2022 Aug 23. >>PubMed-Link<<
Lara Marrone, Paolo M Marchi, Christopher P Webster, Raffaele Marroccella, Ian Coldicott, Steven Reynolds, João Alves-Cruzeiro, Zih-Liang Yang, Adrian Higginbottom, Mukhran Khundadze, Pamela J Shaw, Christian A Hübner, Matthew R Livesey, Mimoun Azzouz
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2. August 2022 (TreatHSP.net)
Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegiaBrain. 2022 Aug.
Tania Rizo, Lisa Gebhardt, Julia Riedlberger, Esther Eberhardt, Lars Fester, Dalia Alansary, Jürgen Winkler, Soeren Turan, Philipp Arnold, Barbara A. Niemeyer, Michael J. M. Fischer, Beate Winner
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29. July 2022 (TreatHSP.net)
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegiaOrphanet J Rare Dis. 2022 Jul 29. >>PubMed-Link<<
Kathrin S Utz, Zacharias Kohl, Dominique Cornelius Marterstock, Arnd Doerfler, Jürgen Winkler, Manuel Schmidt, Martin Regensburger
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15. July 2022 (TreatHSP.net)
The Quest for Anti-α-Synuclein Antibody Specificity-Lessons Learnt From Flow Cytometry AnalysisFront Neurol. 2022 Jul 15. >>PubMed-Link<<
Lukas Leupold, Veronika Sigutova, Elizaveta Gerasimova, Martin Regensburger, Sebastian Zundler, Friederike Zunke, Wei Xiang, Beate Winner, Iryna Prots
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8. July 2022 (TreatHSP.net)
SARS-CoV-2, COVID-19 and NeurodegenerationBrain Sci. 2022 Jul 8. >>PubMed-Link<<
Lars Tönges, Stephan Klebe
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6. June 2022 (TreatHSP.net)
Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia: A Cross-Sectional Multicenter Clinical StudyNeurology. 2022 Jun 6. >>PubMed-Link<<
Martin Regensburger, Imke Tabea Spatz, Malte Ollenschläger, Christine F Martindale, Philipp Lindeburg, Zacharias Kohl, Björn Eskofier, Jochen Klucken, Rebecca Schüle, Stephan Klebe, Jürgen Winkler, Heiko Gaßner
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6. June 2022 (TreatHSP.net)
Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia: A Cross-Sectional Multicenter Clinical StudyNeurology. 2022 Jun 6. >>PubMed-Link<<
Martin Regensburger, Imke Tabea Spatz, Malte Ollenschläger, Christine F Martindale, Philipp Lindeburg, Zacharias Kohl, Björn Eskofier, Jochen Klucken, Rebecca Schüle, Stephan Klebe, Jürgen Winkler, Heiko Gaßner
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20. May 2022 (TreatHSP.net)
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulatorsExp Neurol. 2022 May 20. >>PubMed-Link<<
Michaela Hörner, Janos Groh, Dennis Klein, Winfried Ilg, Ludger Schöls, Sara Dos Santos, Anna Bergmann, Stephan Klebe, Margaux Cauhape, Julien Branchu, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios, Rudolf Martini
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20. May 2022 (TreatHSP.net)
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP GeneNeurol Genet. 2022 May 20. >>PubMed-Link<<
Tsepo Goerttler, Letizia Zanetti, Maria Regoni, Karl Egger, Elias Kellner, Cornelius Deuschl, Christoph Kleinschnitz, Jenny Sassone, Stephan Klebe
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17. May 2022 (TreatHSP.net)
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1Neurology. 2022 May 17. >>PubMed-Link<<
Carlo Wilke et al.
, David Mengel, Ludger Schöls, Holger Hengel, Maria Rakowicz, Thomas Klockgether, Alexandra Durr, Alessandro Filla, Bela Melegh, Rebecca Schüle, Kathrin Reetz, Heike Jacobi, Matthis Synofzik
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20. April 2022 (TreatHSP.net)
Efficient and Easy Conversion of Human iPSCs into Functional Induced Microglia-like CellsInt J Mol Sci. 2022 Apr 20. >>PubMed-Link<<
Jonas Lanfer, Johanna Kaindl, Laura Krumm, Miguel Gonzalez Acera, Markus Neurath, Martin Regensburger, Florian Krach, Beate Winner
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1. April 2022 (TreatHSP.net)
Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4Stem Cell Res. 2022 Apr. >>PubMed-Link<<
M Korneck, L Wiora, L Schöls, S Hauser
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28. March 2022 (TreatHSP.net)
SARS-CoV-2, COVID-19 and Parkinson’s Disease-Many Issues Need to Be Clarified-A Critical ReviewBrain Sci. 2022 Mar 28. >>PubMed-Link<<
Tsepo Goerttler, Eun-Hae Kwon, Michael Fleischer, Mark Stettner, Lars Tönges, Stephan Klebe
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16. February 2022 (TreatHSP.net)
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4Ann Clin Transl Neurol. 2022 Feb 16. >>PubMed-Link<<
Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, Tim W Rattay, Holger Hengel, Jennifer Reichbauer, Elke Stransky, Alejandra Leyva-Gutiérrez, David Mengel, Matthis Synofzik, Ludger Schöls, Peter Martus, Rebecca Schüle
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24. January 2022 (TreatHSP.net)
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar AtaxiaMov Disord. 2022 Jan 24. >>PubMed-Link<<
Annika Thierfelder, Jens Seemann, Natalie John, Florian Harmuth, Martin Giese, Rebecca Schüle, Ludger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg -
1. October 2021 (TreatHSP.net)
Functional gait measures correlate to fear of falling, and quality of life in patients with Hereditary Spastic Paraplegia: A cross-sectional studyClin Neurol Neurosurg. 2021 Oct. >>PubMed-Link<<
Heiko Gaßner, Julia List, Christine F Martindale, Martin Regensburger, Jochen Klucken, Jürgen Winkler, Zacharias Kohl
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29. September 2021 (TreatHSP.net)
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical PerspectivesNucleic Acid Ther. 2021 Sep 29. >>PubMed-Link<<
Matthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, Hermine A van Duyvenvoorde, Holm Graessner, Rebecca Schüle, Annemieke Aartsma-Rus
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26. August 2021 (TreatHSP.net)
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-inStem Cell Res. 2021 Aug 26. >>PubMed-Link<<
Laura Krumm, Tatyana Pozner, Johanna Kaindl, Martin Regensburger, Claudia Günther, Soeren Turan, Reza Asadollahi, Anita Rauch, Beate Winner
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7. July 2021 (TreatHSP.net)
Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor NeuronsFront Neurosci. 2021 Jul 7. >>PubMed-Link<<
Fabian Güner, Tatyana Pozner, Florian Krach, Iryna Prots, Sandra Loskarn, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Beate Winner, Martin Regensburger
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25. June 2021 (TreatHSP.net)
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasFront Neurol. 2021 Jun 25. >>PubMed-Link<<
Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H Roxburgh, Filippo M Santorelli, Tommaso Schirinzi, Deborah A Sival, Dagmar Timmann, Stefan Vielhaber, Michael Wallner, Bart P van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Rebecca Schüle, Ludger Schöls, PREPARE Consortium; Matthis Synofzik
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22. June 2021 (TreatHSP.net)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaBrain. 2021 Jun 22. >>PubMed-Link<<
Manuela Wiessner, Reza Maroofian , Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Genomics England Research Consortium, PREPARE network; Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
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10. May 2021 (TreatHSP.net)
Solving unsolved rare neurological diseases-a Solve-RD viewpointEur J Hum Genet. 2021 May 10. >>PubMed-Link<<
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND; Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD Consortium
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10. May 2021 (TreatHSP.net)
Lipid Droplets in the Pathogenesis of Hereditary Spastic ParaplegiaFront Mol Biosci. 2021 May 10. >>PubMed-Link<<
Nimesha Tadepalle, Elena I Rugarli
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5. April 2021 (TreatHSP.net)
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegiaAnn Clin Transl Neurol. 2021 Apr 5. >>PubMed-Link<<
Christoph Kessler, Lina M Serna-Higuita, Tim W Rattay, Walter Maetzler, Isabel Wurster, Stefanie Hayer, Carlo Wilke, Holger Hengel, Jennifer Reichbauer, Marcel Armbruster, Ludger Schöls, Peter Martus, Rebecca Schüle
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1. December 2020 (TreatHSP.net)
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1Stem Cell Research. 2020 Dec. >>PubMed-Link<<
Maike Nagela, Sandra Müßig Philip Höflinger, Ludger Schöls, Stefan Hauser, Rebecca Schüle
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1. December 2020 (TreatHSP.net)
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1Stem Cell Research. 2020 Dec. >>PubMed-Link<<
Maike Nagela, Sandra Müßig Philip Höflinger, Ludger Schöls, Stefan Hauser, Rebecca Schüle
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11. November 2020 (TreatHSP.net)
Intracellular A53T Mutant α-Synuclein Impairs Adult Hippocampal Newborn Neuron IntegrationFront Cell Dev Biol. 2020 Nov 11. [Epub ahead of print] >>PubMed-Link<<
Martin Regensburger, Judith Stemick, Eliezer Masliah, Zacharias Kohl, Beate Winner
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1. November 2020 (TreatHSP.net)
Clinical Relevance of Standardized Mobile Gait Tests. Reliability Analysis Between Gait Recordings at Hospital and Home in Parkinson’s Disease: A Pilot StudyJ Parkinsons Dis. 2020. [Epub ahead of print] >>PubMed-Link<<
Heiko Gaßner, Philipp Sanders, Alisa Dietrich, Franz Marxreiter, Bjoern M Eskofier, Jürgen Winkler, Jochen Klucken
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12. October 2020 (TreatHSP.net)
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neuronsDis Model Mech. 2020 Oct 12. >>PubMed-Link<<
S Schuster, E Heuten, A Velic, J Admard, M Synofzik, S Ossowski, B Macek, S Hauser, L Schöls
joint publication Treat-ION/TreatHSP.net
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24. September 2020 (TreatHSP.net)
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture ModelsFront Cell Dev Biol. 2020 Sep 24. >>PubMed-Link<<
Stefan Hauser, Stefanie Schuster, Elena Heuten, Philip Höflinger, Jakob Admard, Yvonne Schelling, Ana Velic, Boris Macek, Stephan Ossowski, Ludger Schöls
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29. August 2020 (TreatHSP.net)
Long-term course of anterior spinal cord herniation presenting with an upper motor neuron syndrome: case report illustrating diagnostic and therapeutic implicationsBMC Neurol. 2020 Aug 29. >>PubMed-Link<<
Martin Regensburger, Johannes C M Schlachetzki, Jörg Klekamp, Arnd Doerfler, Jürgen Winkler
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6. August 2020 (TreatHSP.net)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaAm J Hum Genet. 2020 Aug 6. [Epub ahead of print] >>PubMed-Link<<
Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack
joint publication mitoNET/TreatHSP.net
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6. August 2020 (TreatHSP.net)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaAm J Hum Genet. 2020 Aug 6. >>PubMed-Link<<
Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack
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18. May 2020 (TreatHSP.net)
Decoding Parkinson’s disease – iPSC-derived models in the OMICs eraMol Cell Neurosci. 2020 Jul. [Epub ahead of print] >>PubMed-Link<<
Florian Krach, Marios-Evangelos Bogiongko, Beate Winner
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18. May 2020 (TreatHSP.net)
Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis PigmentosaMov Disord . 2020 May 18. [Epub ahead of print] >>PubMed-Link<<
Martin Regensburger, Georgia Minakaki, Matthias Kettwig, Cord Huchzermeyer, Felix Eisenhut, Tobias B Haack, Zacharias Kohl, Jürgen Winkler
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1. May 2020 (TreatHSP.net)
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesNat Genet. 2020 May. [Epub ahead of print]>>PubMed-Link<<
Andrea Cortese, Yi Zhu, Adriana P Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J Bacon, Yunhong Bai, Dana M Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C Danzi, Shawna M E Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A Haridy, Inherited Neuropathy Consortium; Rosario Isasi, Alaa Khan, Matilde Laurà, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M Rossor, Paola Saveri, Janet E Sowden, Stefano Tozza, Jana Vandrovcova, Julia Dallman, Elena Grignani, Enrico Marchioni, Steven S Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al-Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer-Grumbach, Mohamed A Abdelhamed, Sherifa A Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N Herrmann, Mary M Reilly, Michael E Shy, R Grace Zhai, Stephan Zuchner
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1. May 2020 (TreatHSP.net)
Janus-faced Spatacsin (SPG11): Involvement in Neurodevelopment and Multisystem NeurodegenerationBrain. 2020 May 1. [Epub ahead of print] >>PubMed-Link<<
Tatyana Pozner, Martin Regensburger, Tobias Engelhorn, Jürgen Winkler, Beate Winner
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1. February 2020 (TreatHSP.net)
Aicardi-Goutières Syndrome Due to a Paternal Mosaic IFIH1 MutationNeurol Genet. 2020 Feb. [Epub ahead of print] >>PubMed-Link<<
Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, Peter Kaufmann, Christine Wolf, Nadja Lucas, Florian Harmuth, Jennifer Reichbauer, Ingeborg Krägeloh-Mann, Rebecca Schüle, Min Ae Lee-Kirsch
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17. January 2020 (TreatHSP.net)
Modeling Cell-Cell Interactions in Parkinson’s Disease Using Human Stem Cell-Based ModelsFront Cell Neurosci. 2020 Jan 17. [Epub ahead of print] >>PubMed-Link<<
Katrin Simmnacher, Jonas Lanfer, Tania Rizo, Johanna Kaindl, Beate Winner
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21. October 2019 (TreatHSP.net)
Bi-allelic Variants in RNF170 Are Associated With Hereditary Spastic ParaplegiaNat Commun. 2019 Oct 21. >>PubMed-Link<<
Matias Wagner, Daniel P S Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni , Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle