Journal Article

DZNE-2024-00110

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.

Faber, J. (First author)DZNE* ; Berger, M. ; Wilke, C.DZNE* ; Hubener-Schmid, J. ; Schaprian, T.DZNE* ; Santana, M. M. ; Grobe-Einsler, M.DZNE* ; Onder, D.DZNE* ; Koyak, B.DZNE* ; 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. ; van Gaalen, J. ; de Vries, J. ; Oz, G. ; Joers, J. M. ; Synofzik, M.DZNE* ; Schols, L.DZNE* ; Riess, O. ; Infante, J. ; Manrique, L. ; Timmann, D. ; Thieme, A. ; Jacobi, H.Extern* ; Reetz, K. ; Dogan, I. ; Onyike, C. ; Povazan, M. ; Schmahmann, J. ; Ratai, E.-M. ; Schmid, M.DZNE* ; Klockgether, T.DZNE*

2024
Wiley-Blackwell Hoboken, NJ

This record in other databases:    

Please use a persistent id in citations: doi:10.1002/ana.26824

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.

Keyword(s): Humans (MeSH) ; Machado-Joseph Disease: genetics (MeSH) ; Cross-Sectional Studies (MeSH) ; Cerebellar Ataxia (MeSH) ; Ataxia (MeSH) ; Biomarkers (MeSH) ; Biomarkers

---

Contributing Institute(s):

1. Patient Studies (AG Klockgether)
2. Patient Studies Bonn (Patient Studies Bonn)
3. Clinical Research (Bonn) (AG Spottke)
4. Parkinson Genetics (AG Gasser)
5. Clinical Neurogenetics (AG Schöls)
6. Mathematics, statistics and informatics methods for support of population studies and clinical research (AG Schmid Bonn)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2024

---

Database coverage:
; ; ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 10 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

---