Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

Our findings support the utility of NfL, particularly sNfL, as a promising biomarker of disease progression in LD. While further research is needed to fully elucidate the potential of NfL in this context, it holds immediate promise as an exploratory outcome measure in ongoing and future clinical trials.

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Publication Details

Journal
Neurology Genetics
Published
2025-10-23
DOI
https://doi.org/10.1212/nxg.0000000000200319
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
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article

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

Dávid Brenner, Souad Messahel, Lorenzo Muccioli, Francesca Bisulli et al.
Neurology Genetics
Glycogen Storage Diseases and Myoclonus
article

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

Dávid Brenner, Souad Messahel, Lorenzo Muccioli, Francesca Bisulli, Hayrettin Tumani, Jan Wagner, Mayank Verma, Maria Tappatà, Berge A. Minassian, Jochen Hans Weishaupt, Raffaella Minardi, Felix Nitschké, Franziska Bachhuber, Mahmoud Alkhatib, Felicitas Becker, Sebahattin Çirak, Bazile Ganceviciute
article en

Abstract

Our findings support the utility of NfL, particularly sNfL, as a promising biomarker of disease progression in LD. While further research is needed to fully elucidate the potential of NfL in this context, it holds immediate promise as an exploratory outcome measure in ongoing and future clinical trials.

Neurology GeneticsVol. 11(6)
Universität Ulm (DE), German Center for Neurodegenerative Diseases (DE), German Center for Pediatric and Adolescent Rheumatology (DE), Southwestern Medical Center (US), Istituto delle Scienze Neurologiche di Bologna (IT), University Hospital Ulm (DE), The University of Texas Southwestern Medical Center (US), University of Bologna (IT)
Openalex Percentile: Top 56%
Glycogen Storage Diseases and Myoclonus
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Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease — Dávid Brenner, Souad Messahel, et al. · Neurology Genetics (2025) | TGRS Research Map | TGRS