Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

Jennifer Faber; Moritz Berger; Carlo Wilke; Jeannette Hubener-Schmid; Tamara Schaprian; Magda M. Santana; Marcus Grobe-Einsler; Demet Onder; Berkan Koyak; Paola Giunti; Hector Garcia-Moreno; Cristina Gonzalez-Robles; Manuela Lima; Mafalda Raposo; Ana Rosa Vieira Melo; Luís Pereira de Almeida; Patrick Silva; Maria M. Pinto; Bart P. van de Warrenburg; Judith van Gaalen; Jeroen de Vries; Gulin Oz; James M. Joers; Matthis Synofzik; Ludger Schols; Olaf Riess; Jon Infante; Leire Manrique; Dagmar Timmann; Andreas Thieme; Heike Jacobi; Kathrin Reetz; Imis Dogan; Chiadikaobi Onyike; Michal Povazan; Jeremy Schmahmann; Eva Maria Ratai; Matthias Schmid; Thomas Klockgether

doi:10.1002/ana.26824

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hubener-Schmid, Tamara Schaprian, Magda M. Santana, Marcus Grobe-Einsler, Demet Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M. Pinto, Bart P. van de Warrenburg, Judith van GaalenJeroen de Vries, Gulin Oz, James M. Joers, Matthis Synofzik, Ludger Schols, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi Onyike, Michal Povazan, Jeremy Schmahmann, Eva Maria Ratai, Matthias Schmid, Thomas Klockgether

Center for Magnetic Resonance Research

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Abstract

Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado–Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2.2 years and 0.6 years before ataxia onset. We propose a staging model of spinocerebellar ataxia type 3/Machado–Joseph disease that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset. ANN NEUROL 2024;95:400–406.

Original language	English (US)
Pages (from-to)	400-406
Number of pages	7
Journal	Annals of Neurology
Volume	95
Issue number	2
DOIs	https://doi.org/10.1002/ana.26824
State	Published - Feb 2024

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© 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

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Faber, J., Berger, M., Wilke, C., Hubener-Schmid, J., Schaprian, T., Santana, M. M., Grobe-Einsler, M., Onder, D., Koyak, B., Giunti, P., Garcia-Moreno, H., Gonzalez-Robles, C., Lima, M., Raposo, M., Melo, A. R. V., de Almeida, L. P., Silva, P., Pinto, M. M., van de Warrenburg, B. P., ... Klockgether, T. (2024). Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3. Annals of Neurology, 95(2), 400-406. https://doi.org/10.1002/ana.26824

Faber, J, Berger, M, Wilke, C, Hubener-Schmid, J, Schaprian, T, Santana, MM, Grobe-Einsler, M, Onder, D, Koyak, B, Giunti, P, Garcia-Moreno, H, Gonzalez-Robles, C, Lima, M, Raposo, M, Melo, ARV, de Almeida, LP, Silva, P, Pinto, MM, van de Warrenburg, BP, van Gaalen, J, de Vries, J, Oz, G , Joers, JM, Synofzik, M, Schols, L, Riess, O, Infante, J, Manrique, L, Timmann, D, Thieme, A, Jacobi, H, Reetz, K, Dogan, I, Onyike, C, Povazan, M, Schmahmann, J, Ratai, EM, Schmid, M & Klockgether, T 2024, 'Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3', Annals of Neurology, vol. 95, no. 2, pp. 400-406. https://doi.org/10.1002/ana.26824

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abstract = "Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado–Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2.2 years and 0.6 years before ataxia onset. We propose a staging model of spinocerebellar ataxia type 3/Machado–Joseph disease that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset. ANN NEUROL 2024;95:400–406.",

author = "Jennifer Faber and Moritz Berger and Carlo Wilke and Jeannette Hubener-Schmid and Tamara Schaprian and Santana, {Magda M.} and Marcus Grobe-Einsler and Demet Onder and Berkan Koyak and Paola Giunti and Hector Garcia-Moreno and Cristina Gonzalez-Robles and Manuela Lima and Mafalda Raposo and Melo, {Ana Rosa Vieira} and {de Almeida}, {Lu{\'i}s Pereira} and Patrick Silva and Pinto, {Maria M.} and {van de Warrenburg}, {Bart P.} and {van Gaalen}, Judith and {de Vries}, Jeroen and Gulin Oz and Joers, {James M.} and Matthis Synofzik and Ludger Schols and Olaf Riess and Jon Infante and Leire Manrique and Dagmar Timmann and Andreas Thieme and Heike Jacobi and Kathrin Reetz and Imis Dogan and Chiadikaobi Onyike and Michal Povazan and Jeremy Schmahmann and Ratai, {Eva Maria} and Matthias Schmid and Thomas Klockgether",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",

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doi = "10.1002/ana.26824",

language = "English (US)",

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AU - Berger, Moritz

AU - Wilke, Carlo

AU - Hubener-Schmid, Jeannette

AU - Schaprian, Tamara

AU - Santana, Magda M.

AU - Grobe-Einsler, Marcus

AU - Onder, Demet

AU - Koyak, Berkan

AU - Giunti, Paola

AU - Garcia-Moreno, Hector

AU - Gonzalez-Robles, Cristina

AU - Lima, Manuela

AU - Raposo, Mafalda

AU - Melo, Ana Rosa Vieira

AU - de Almeida, Luís Pereira

AU - Silva, Patrick

AU - Pinto, Maria M.

AU - van de Warrenburg, Bart P.

AU - van Gaalen, Judith

AU - de Vries, Jeroen

AU - Oz, Gulin

AU - Joers, James M.

AU - Synofzik, Matthis

AU - Schols, Ludger

AU - Riess, Olaf

AU - Infante, Jon

AU - Manrique, Leire

AU - Timmann, Dagmar

AU - Thieme, Andreas

AU - Jacobi, Heike

AU - Reetz, Kathrin

AU - Dogan, Imis

AU - Onyike, Chiadikaobi

AU - Povazan, Michal

AU - Schmahmann, Jeremy

AU - Ratai, Eva Maria

AU - Schmid, Matthias

AU - Klockgether, Thomas

PY - 2024/2

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N2 - Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado–Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2.2 years and 0.6 years before ataxia onset. We propose a staging model of spinocerebellar ataxia type 3/Machado–Joseph disease that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset. ANN NEUROL 2024;95:400–406.

AB - Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado–Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2.2 years and 0.6 years before ataxia onset. We propose a staging model of spinocerebellar ataxia type 3/Machado–Joseph disease that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset. ANN NEUROL 2024;95:400–406.

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JO - Annals of Neurology

JF - Annals of Neurology

IS - 2

ER -

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

Abstract

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