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The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.
Selvadurai, Louisa P; Perlman, Susan L; Wilmot, George R; Subramony, Sub H; Gomez, Christopher M; Ashizawa, Tetsuo; Paulson, Henry L; Onyike, Chiadi U; Rosenthal, Liana S; Sair, Haris I; Kuo, Sheng-Han; Ratai, Eva-Maria; Zesiewicz, Theresa A; Bushara, Khalaf O; Öz, Gülin; Dietiker, Cameron; Geschwind, Michael D; Nelson, Alexandra B; Opal, Puneet; Yacoubian, Talene A; Nopoulos, Peggy C; Shakkottai, Vikram G; Figueroa, Karla P; Pulst, Stefan M; Morrison, Peter E; Schmahmann, Jeremy D.
Afiliación
  • Selvadurai LP; Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Perlman SL; Department of Neurology, University of California, Los Angeles, Los Angeles, CA, USA.
  • Wilmot GR; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
  • Subramony SH; Department of Neurology, University of Florida College of Medicine, McKnight Brain Institute, Gainesville, FL, USA.
  • Gomez CM; Department of Neurology, University of Chicago, Chicago, IL, USA.
  • Ashizawa T; Department of Neurology, Houston Methodist Research Institute, Houston, TX, USA.
  • Paulson HL; Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
  • Onyike CU; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Rosenthal LS; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Sair HI; Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Kuo SH; Department of Neurology, Columbia University, New York, NY, USA.
  • Ratai EM; Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Zesiewicz TA; Department of Neurology, Ataxia Research Center, University of South Florida, Tampa, FL, USA.
  • Bushara KO; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
  • Öz G; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
  • Dietiker C; Department of Neurology, University of California, San Francisco, CA, USA.
  • Geschwind MD; Department of Neurology, University of California, San Francisco, CA, USA.
  • Nelson AB; Department of Neurology, University of California, San Francisco, CA, USA.
  • Opal P; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Yacoubian TA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Nopoulos PC; Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
  • Shakkottai VG; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Figueroa KP; Department of Neurology, University of Utah, Salt Lake City, UT, USA.
  • Pulst SM; Department of Neurology, University of Utah, Salt Lake City, UT, USA.
  • Morrison PE; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
  • Schmahmann JD; Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. jschmahmann@mgh.harvard.edu.
Cerebellum ; 22(5): 790-809, 2023 Oct.
Article en En | MEDLINE | ID: mdl-35962273
Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders, but there is no metric that predicts disease severity over time. We hypothesized that by developing a new metric, the Severity Factor (S-Factor) using immutable disease parameters, it would be possible to capture disease severity independent of clinical rating scales. Extracting data from the CRC-SCA and READISCA natural history studies, we calculated the S-Factor for 438 participants with symptomatic SCA1, SCA2, SCA3, or SCA6, as follows: ((length of CAG repeat expansion - maximum normal repeat length) /maximum normal repeat length) × (current age - age at disease onset) × 10). Within each SCA type, the S-Factor at the first Scale for the Assessment and Rating of Ataxia (SARA) visit (baseline) was correlated against scores on SARA and other motor and cognitive assessments. In 281 participants with longitudinal data, the slope of the S-Factor over time was correlated against slopes of scores on SARA and other motor rating scales. At baseline, the S-Factor showed moderate-to-strong correlations with SARA and other motor rating scales at the group level, but not with cognitive performance. Longitudinally the S-Factor slope showed no consistent association with the slope of performance on motor scales. Approximately 30% of SARA slopes reflected a trend of non-progression in motor symptoms. The S-Factor is an observer-independent metric of disease burden in SCAs. It may be useful at the group level to compare cohorts at baseline in clinical studies. Derivation and examination of the S-factor highlighted challenges in the use of clinical rating scales in this population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas Tipo de estudio: Diagnostic_studies / Prognostic_studies Aspecto: Patient_preference Límite: Humans Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas Tipo de estudio: Diagnostic_studies / Prognostic_studies Aspecto: Patient_preference Límite: Humans Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos