Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder

Autor: Schmitz‐Hübsch, Tanja, Lux, Silke, Bauer, Peter, Brandt, Alexander U., Schlapakow, Elena, Greschus, Susanne, Scheel, Michael, Gärtner, Hanna, Kirlangic, Mehmet E., Gras, Vincent, Timmann, Dagmar, Synofzik, Matthis, Giorgetti, Alejandro, Carloni, Paolo, Shah, Jon N., Schöls, Ludger, Kopp, Ute, Bußenius, Lisa, Oberwahrenbrock, Timm, Zimmermann, Hanna, Pfueller, Caspar, Kadas, Ella‐Maria, Rönnefarth, Maria, Grosch, Anne‐Sophie, Endres, Matthias, Amunts, Katrin, Paul, Friedemann, Doss, Sarah, Minnerop, Martina

Publikováno v: Annals of Clinical and Translational Neurology 8(4), 774-789 (2021). doi:10.1002/acn3.51315
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 774-789 (2021)

Annals of Clinical and Translational Neurology 8(4), 774-789 (2021). doi:10.1002/acn3.51315
Published by Wiley, Chichester [u.a.]

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb1da0a7686049a979a9dd7289510e2
http://hdl.handle.net/11562/1064676

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia

Autor: Rafał Rola, Antonella Antenora, Tanja Schmitz-Hübsch, Massimo Pandolfo, Bart P.C. van de Warrenburg, Anna Castaldo, Alexis Brice, Wolfgang Nachbauer, Sophie Tezenas du Montcel, José Berciano, Arron Cook, Paola Giunti, Caterina Mariotti, Jörg B. Schulz, Lorenzo Nanetti, Heike Jacobi, Kang Jun-Suk, Jon Infante, Holger Hengel, Alexandra Durr, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Michael H Parkinson, Alessandro Filla, Béla Melegh, Maria Rakowicz, Alhassane Diallo, Perrine Charles, Sylvia Boesch, Anna Sulek, Dagmar Timmann, Peter Bauer, Cecila Marelli, Robyn Labrum, Marta Panzeri

Publikováno v: Movement disorders
Movement disorders 34(8), 1220-1227 (2019). doi:10.1002/mds.27739
Movement Disorders, 34, 1220-1227
Movement Disorders, 34, 8, pp. 1220-1227

Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2527d82655eeffa347c74770eb8a24d5
https://www.ncbi.nlm.nih.gov/pubmed/31211461

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Autor: Dagmar Timmann, Natalie Rommel, Adam P. Vogel, Eva-Maria Kraus, Elsdon Storey, Patrick Krumm, Cynthia Gagnon, Ludger Schöls, Marius Horger, Andreas Oettinger, Lisa H. Stoll, Matthis Synofzik

Publikováno v: Journal of neurology 265(9), 2060-2070 (2018). doi:10.1007/s00415-018-8950-4

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465b3270602ecf67ab3c01466c94514e
https://pub.dzne.de/record/140167

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Autor: Massimo Pandolfo, Sylvia Boesch, Laszlo Baliko, Thomas Klockgether, Sandra Szymanski, Ludger Schöls, Alessandro Filla, Anna Sulek, Arron Cook, Bart P.C. van de Warrenburg, Heike Jacobi, Maria Rakowicz, Jun Suk Kang, Holger Hengel, Michael H Parkinson, Dagmar Timmann, Anna Sobanska, Jon Infante, Alexis Brice, Peter Bauer, Jörg B. Schulz, Lorenzo Nanetti, Sophie Tezenas du Montcel, Antonella Antenora, Cecilia Marelli, Alexandra Durr, Paola Giunti, Robyn Labrum, Marta Panzeri, Béla Melegh, Alhassane Diallo, Perrine Charles, Caterina Mariotti, Sonia Molho, José Berciano, Tanja Schmitz-Hübsch

Publikováno v: The lancet / Neurology 14(11), 1101-1108 (2015). doi:10.1016/S1474-4422(15)00202-1
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8

Item does not contain fulltext BACKGROUND: Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases. As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534c17ecab923dbbb896a52ac0d70e3c
https://doi.org/10.1016/s1474-4422(15)00202-1

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

Autor: Massimo Pandolfo, Javier Arpa, Ivan Karin, Andreas Eigentler, Anna Castaldo, Sophie Tezenas du Montcel, Paola Giunti, Michael H Parkinson, Irene Sanz-Gallego, Marta Panzeri, Jennifer Müller vom Hagen, L. Schoels, Audrey Tanguy Melac, Jörg B. Schulz, Lorenzo Nanetti, Thomas Klopstock, Caterina Mariotti, Sylvia Boesch, Alexandra Durr, Antoine Filipovic Pierucci, Thomas Klockgether, Kathrin Reetz, Ilaria Giordano, Chantal Depondt, Katrin Bürk, Wolfgang Nachbauer

Publikováno v: Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2018). doi:10.1136/jnnp-2017-316964
Journal of neurology, neurosurgery, and psychiatry 89(6), 559-565 (2017). doi:10.1136/jnnp-2017-316964
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (6), pp.559-565. ⟨10.1136/jnnp-2017-316964⟩

BackgroundSensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction.MethodsWe evaluated two scales for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f83aa958b0096bec2cc5837bc0b48bb1
https://pubmed.ncbi.nlm.nih.gov/29279305