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Is cerebrospinal fluid amyloid‐β42 a promising biomarker of response to nusinersen in adult spinal muscular atrophy patients?
Author(s) -
Introna Alessandro,
Milella Giammarco,
D'Errico Eustachio,
Fraddosio Angela,
Scaglione Gaspare,
Ucci Maria,
Ruggieri Maddalena,
Simone Isabella Laura
Publication year - 2021
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.27212
Subject(s) - sma* , cerebrospinal fluid , spinal muscular atrophy , medicine , confidence interval , biomarker , atrophy , pathology , gastroenterology , disease , biology , biochemistry , mathematics , combinatorics
Nusinersen was approved as the first treatment for all types of spinal muscular atrophy (SMA), including adults with SMA types 2 and 3. Robust biomarkers of treatment response in SMA adults are lacking. Our aim was to examine cerebrospinal fluid (CSF) amyloid‐β40 (Aβ40) and amyloid‐β42 (Aβ42) peptides as biomarkers of treatment response. Methods Eight patients with SMA types 2 and 3 were recruited consecutively in a single‐center study. CSF was sampled at baseline, after a loading dose, and after three maintenance doses. Levels of Aβ42 and Aβ40 were evaluated for each CSF sampling. Wilcoxon matched‐pairs signed‐rank test was used to detect longitudinal changes. Results CSF levels of Aβ42 increased from baseline to day 420 (95% confidence interval, P = .018), with a significant increase at days 180 and 420 compared with days 0 and 300, respectively (95% confidence interval, P = .012 and P = .018). Discussion The maintenance and promotion of wellness of residual motor neurons mediated by the restored level of SMN protein due to nusinersen could result in an increased level of amyloid peptides.