Citations 2
Juvenile Parkinson's disease: Symptom burden and treatment challenges
Malfer, Lorenzo , Piat, Capucine , Uitti, Ryan J., Fugoso, Leonardo G., Bower, James H. , Savica, Rodolfo , Coffman, Keith A, Savica, Rodolfo , Mullan, Aidan F. , Uitti, Ryan J. , Fugoso, Leonardo, Coon, Elizabeth A. , Coffman, Keith A.
Journal of Parkinson’s Disease | August 5, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Juvenile Parkinson's disease (JPD) is a rare condition characterized by the onset of parkinsonian motor symptoms before the age of 21. Sixteen patients with JPD who presented to the Mayo Clinic between 1990-2020 were included. The median age of symptoms onset was 18.5 years, and six cases had pathogenic PRKN mutations. Resting tremor was the most frequent initial symptom (81.3%), and non-motor symptoms were notably common, including mild cognitive impairment (56.3%), anxiety (62.5%), and depression (56.3%). Levodopa responsiveness was suboptimal in 9 patients and 14 exhibited motor fluctuations. JPD demonstrates distinct clinical characteristics compared with early-onset and late-onset PD.
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
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.