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Spinocerebellar ataxia type 1 (SCA1) is a devastating neurodegenerative disorder characterized by a rapid and irreversible decline in motor function in middle age, caused by translational expansion of CAG repeats in the ATXN1 gene
Spinocerebellar ataxia type 1 (SCA1) is a devastating neurodegenerative disorder characterized by a rapid and irreversible decline in motor function in middle age, caused by translational expansion of CAG repeats in the ATXN1 gene
The researchers propose serum neurofilament light (SNFL) levels as an objective and readily available blood biomarker for pre-ataxia disease stratification and detection of early neuronal decline in SCA1
We assessed serum (SNFL) and cerebrospinal fluid (CNfL) NFL levels in pre-ataxia and ataxia SCA1 patients using multicenter cohorts recruited at six European university centers and clinical follow-up data, including actual observations (rather than actual observations).
- A total of 40 SCA1 subjects (23 pre-ataxia, 17 ataxia) and 89 control subjects, including 11 pre-ataxia subjects, were included in the study
SNFL levels may provide readily accessible peripheral biomarkers in pre-ataxia and ataxia SCA1, allowing pre-ataxia subjects to be stratified near pre-onset and detect neurodegeneration early even before volumetric MRI changes , and potentially capture treatment responses in clinical trials
This study provides class III evidence that NFL levels are increased in SCA1 in both ataxia and pre-ataxia and are associated with the onset of ataxia
Source: Wilke C, Mengel D, Schöls L, et al.
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1 [published online ahead of print, 2022 Mar 9].
Neurology.
2022;10.
1212/WNL.
0000000000200257.
doi:10.
1212/WNL.
0000000000200257 Wilke C, Mengel D, Schöls L, et al.
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1 [published online ahead of print, 2022 Mar 9].
Neurology.
2022;10.
1212/WNL.
0000000000200257.
doi:10.
1212/WNL.
0000000000200257Leave
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