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Lemos, João

https://orcid.org/0000-0002-9128-7064

Mayo Clinic

Unidade Local de Saúde de Coimbra

Citations 6

Longitudinal Dynamics of Polyglutamine‐Expanded ATXN3 in Biofluids of Spinocerebellar Ataxia Type 3
Bartfield, Jordan, Milanowski, L, Jansen‐West, Karen , Al‐Shaikh, Rana Hanna , Chmiela, Tomasz , Dunmore, Judith A. , Gorcenco, Sorina , Puschman, Andreas, Lemos, João, Januario, C, Ledoux, Mark S., Onodera, O, Aiba, I, Pfeiffer, Ronald F., Paulson, Henry, McLoughlin, Hayley S., Teive, Helio A.G., Soto-Piña, Alexandra E., Uitti, Ryan J., Strongosky, Audrey, Petrucelli, L, Paulson, Henry L. , Milanowski, Łukasz , Dunmore, Judith A , Gorcenco, Sorina , Friedman, Joseph H. , Sławek, Jarosław , Wszolek, Z.K. , Chmiela, Tomasz , Paulson, Henry L , Milanowski, Łukasz M , Gendron, Tania F. , Lemos, João , Januário, Cristina , Onodera, Osamu , Aiba, Ikuko , Pfeiffer, Ronald F. , McLoughlin, Hayley S. , Dulski, Jarosław , Sławek, Jarosław , Teive, Hélio Afonso Ghizoni , Soto‐Piña, Alexandra Estela , Uitti, Ryan J. , Strongosky, Audrey , Prudencio, Mercedes , Wszołek, Zbigniew K.

Movement Disorders | July 1, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1002/mds.70411 Get It

Abstract Background Spinocerebellar ataxia type 3 (SCA3), the most common autosomal dominant ataxia, is driven by the accumulation of polyglutamine‐expanded (polyQ) ATXN3 proteins. While promising as biomarkers, their longitudinal trajectories across multiple biofluids remain poorly defined. Objectives To quantify polyQ ATXN3 levels in cerebrospinal fluid (CSF), plasma, and urine within a comprehensive cohort, utilizing serial measurements to map protein dynamics. Methods We employed a validated immunoassay to quantify polyQ ATXN3 in 97 symptomatic and 13 presymptomatic SCA3 patients, correlating levels with clinical features, ancestry, disease status, and longitudinal progression. Results Asian participants exhibited lower plasma but elevated urinary polyQ ATXN3 levels relative to other ancestries. While CSF levels were higher in symptomatic patients at baseline, they showed a significant longitudinal decline. Conclusions PolyQ ATXN3 is a viable multi‐biofluid biomarker. Declining CSF levels likely reflect neurodegeneration, supporting its role in tracking progression and emphasizing the need for ancestry‐based adjustment in trials. © 2026 International Parkinson and Movement Disorder Society.
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
Prudencio, Mercedes , García‐Moreno, Héctor , Jansen‐West, Karen , Al‐Shaikh, Rana Hanna , Gendron, Tania F. , Spiegel, Matthew R. , Carlomagno, Yari , Daughrity, Lillian M. , Song, Yuping , Dunmore, Judith A. , Byron, Natalie, Oskarsson, Björn , Nicholson, Katharine, Staff, Nathan P. , Gorcenco, Sorina , Puschmann, Andreas , Lemos, João , Januário, Cristina , LeDoux, Mark S. , Polke, James, Labrum, Robin, McLoughlin, Hayley S. , Paulson, Henry L. , Onodera, Osamu , Tada, Mari , Kakita, Akiyoshi , Fryer, John Denis , Karremo, Christin, Gomes, Inês , Caviness, John N., Pittelkow, Mark R. , Aasly, Jan , Pfeiffer, Ronald F. , Veerappan, Venka , Eggenberger, Eric , Huang, Josephine F. , Uitti, Ryan J. , Wierenga, Klaas J. , Collazo, I. Vanessa Marin , Tipton, Philip W. , Gerpen, Jay A. van, Blitterswijk, Marka van , Bu, Guojun , Petrucelli, Leonard , Jansen-West, Karen R , Carlomagno, Yari , Daughrity, Lillian M , Dunmore, Judith A , Oskarsson, Björn , Staff, Nathan P , Gorcenco, Sorina , Puschmann, Andreas , Lemos, João , Januário, Cristina , Shakkottai, Vikram , McLoughlin, Hayley S , Paulson, Henry L , Konno, Takuya , Onodera, Osamu , Ikeuchi, T , Tada, Mari , Gomes, Inês , Pittelkow, Mark R , Aasly, Jan , Eggenberger, Eric R, Freeman, William D , Huang, Josephine F , Marin Collazo, Iris V , Tipton, Philip W , van Blitterswijk, Marka , Bu, Guojun , Wszolek, Z.K. , Giunti, Paola , Petrucelli, Leonard , Prudencio, Mercedes , Gendron, Tania F , Hanna Al-Shaikh, Rana , Heckman, Michael G. , Friedman, Joseph H. , Konno, Takuya , Ikeuchi, Takeshi , Freeman, William D. , Wszołek, Zbigniew K.

Science Translational Medicine | October 21, 2020 | Volume: 12 | Issue: 566 | Pages: No page available

10.1126/scitranslmed.abb7086 Get It

PolyQ ATXN3 is a pharmacodynamic marker for SCA3, and a SNP associated with the expanded allele may serve to specifically target mutant ATXN3 .
Potential Sampling Bias in Investigation of Upright-Supine Test for Vertical Strabismus—Reply
Eggenberger, Eric , Lemos, João , Lemos, João

JAMA Ophthalmology | October 17, 2018 | Volume: 136 | Issue: 12 | Pages: 1428

10.1001/jamaophthalmol.2018.4178 Get It

Differentiating Acute and Subacute Vertical Strabismus Using Different Head Positions During the Upright-Supine Test
Lemos, João , Subei, Adnan, Sousa, Mário , Nunes, César, Glisson, Christopher C., Eggenberger, Eric , Lemos, João , Cunha, Luís F. N.

JAMA Ophthalmology | February 15, 2018 | Volume: 136 | Issue: 4 | Pages: 322

10.1001/jamaophthalmol.2017.6796 Get It

“Pinball” intrusions in spinocerebellar ataxia type 3
Lemos, João , Novo, Ana Margarida , Duque, Cristina , Castelhano, João , Eggenberger, Eric , Januário, Cristina , Novo, Ana, Lemos, João , Januário, Cristina

Neurology | November 29, 2017 | Volume: 90 | Issue: 1 | Pages: 36-37

10.1212/wnl.0000000000004772 Get It

Head flutter
Lemos, João , Duque, Cristina , Araújo, Rui , Castelhano, João , Eggenberger, Eric , Nunes, Carla , Lemos, João

Neurology | October 23, 2017 | Volume: 89 | Issue: 17 | Pages: 1841-1841

10.1212/wnl.0000000000004583 Get It