Naslov (eng)

Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia

Autor

Brkušanin, M.
Savić-Pavićević, D.
Milić-Rasić, V.
Brajušković, G.
Stević, Z.
Nikolić, D.
Dobrijević, Z.
Radenković, L.
Radovanović, N.
Pešović, J.
Garai, N.
Matijašević Joković, S.
Karanović, J.
Jovanović, K.
Branković-Srećković, V.
Kosač, A.

Publisher

Opis (eng)

ABSTRACT Biomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise. We conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1: n=6, type 2: n=17, type 3: n=6). pNF-H levels before and during treatment were compared with the levels of controls (n=22), patients with Duchenne muscular dystrophy (n=17), myotonic dystrophy type 1 (n=11), untreated SMA individuals with chronic type 3 disease (n=8), and children with presymptomatic SMA (n=3). SMA type 1 showed the highest mean CSF pNF-H levels before treatment initiation.

Jezik

engleski

Datum

2024

Licenca

© All rights reserved

Predmet

neurofilament, spinal muscular atrophy, Nuinersen, pNF-H

Deo kolekcije (1)

o:25140

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