TY  - JOUR
AU  - Muccioli, Lorenzo
AU  - Ganceviciute, Bazile
AU  - Becker, Felicitas
AU  - Minardi, Raffaella
AU  - Tappatà, Maria
AU  - Bachhuber, Franziska
AU  - Alkhatib, Mahmoud
AU  - Cirak, Sebahattin
AU  - Weishaupt, Jochen H
AU  - Verma, Mayank
AU  - Tumani, Hayrettin
AU  - Wagner, Jan
AU  - Messahel, Souad
AU  - Nitschke, Felix
AU  - Minassian, Berge A
AU  - Bisulli, Francesca
AU  - Brenner, David
TI  - Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.
JO  - Neurology / Genetics
VL  - 11
IS  - 6
SN  - 2376-7839
CY  - Minneapolis, Minn.
PB  - [Verlag nicht ermittelbar]
M1  - DZNE-2025-01207
SP  - e200319
PY  - 2025
AB  - Lafora disease (LD) is a severe, ultra-rare childhood-onset progressive myoclonus epilepsy caused by biallelic pathogenic variants in either EPM2A or NHLRC1 and currently without cure. Body fluid-derived biomarkers have remained largely unexplored in LD. Neurofilament light chain (NfL) levels in serum (sNfL) and CSF (cNfL) reflect ongoing neurodegeneration and have been established as prognostic and therapeutic biomarkers in various neurologic disorders. In this study, we assessed the utility of NfL as a biomarker of LD in a multicenter cohort of patients with LD.We conducted cross-sectional and longitudinal measurements of NfL levels in serum (n = 32) and CSF (n = 25) samples from a cohort of 31 patients with LD (26 independent families; mean age 21 years; age range 10.2-40.3; f:m = 16:15; EPM2A:NHLRC1 = 16:15) at diverse disease stages (median LD stage 2) and age-matched control participants with transient minor neurologic conditions (mean age 21.9 years; age range 11.1-41.3; f:m 22:8), treated at 3 referral centers in Ulm, Bologna, and Dallas. At each visit, we assessed LD stage (median LD stage 2; range 0-4) and LD clinical performance score (median score 10.5; range 0-18), allowing for correlation with NfL measurements.When compared with control participants (mean sNfL 7.72, 95
LB  - PUB:(DE-HGF)16
C6  - pmid:41143127
C2  - pmc:PMC12552056
DO  - DOI:10.1212/NXG.0000000000200319
UR  - https://pub.dzne.de/record/281826
ER  -