Kevin Peikert1, Katja Akgün2, Christian Beste3, Tjalf Ziemssen2, Carsten Buhmann4, Adrian Danek5, Andreas Hermann6. 1. Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany. 2. Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. 3. Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry, Faculty of Medicine of the Technische Universität Dresden, Dresden, Germany. 4. Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. 5. Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, München, Germany. 6. Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany; DZNE, German Center for Neurodegenerative Diseases, Research Site Rostock/Greifswald, Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany. Electronic address: andreas.hermann@med.uni-rostock.de.
Abstract
INTRODUCTION: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and acanthocytosis. Biomarkers are not established; possible candidates include neurofilament reflecting neuroaxonal damage. METHODS: We studied serum neurofilament light chain (sNfL) of six ChAc patients compared to two healthy control cohorts (A, six age/sex matched and B, historical cohort of 59 healthy adult subjects) and in two patients with the very similar condition of McLeod syndrome (MLS), the second core syndrome of neuroacanthocytosis. sNfL was quantified using single-molecule array analysis. RESULTS: sNfL concentration was significantly higher in the ChAc cohort (18.73 pg/ml; IQR 15.65-27.70) compared to both healthy control cohorts (A, 7.37 pg/ml; IQR 5.60-9.05; B, 3.10 pg/ml; IQR 2.43-3.98). In MLS patients, a similar sNfL increase was observed. CONCLUSIONS: sNfL is significantly increased in ChAc and MLS and seems to reflect neuroaxonal damage in the peripheral as well as the central nervous system.
INTRODUCTION:Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and acanthocytosis. Biomarkers are not established; possible candidates include neurofilament reflecting neuroaxonal damage. METHODS: We studied serum neurofilament light chain (sNfL) of six ChAcpatients compared to two healthy control cohorts (A, six age/sex matched and B, historical cohort of 59 healthy adult subjects) and in two patients with the very similar condition of McLeod syndrome (MLS), the second core syndrome of neuroacanthocytosis. sNfL was quantified using single-molecule array analysis. RESULTS:sNfL concentration was significantly higher in the ChAc cohort (18.73 pg/ml; IQR 15.65-27.70) compared to both healthy control cohorts (A, 7.37 pg/ml; IQR 5.60-9.05; B, 3.10 pg/ml; IQR 2.43-3.98). In MLSpatients, a similar sNfL increase was observed. CONCLUSIONS:sNfL is significantly increased in ChAc and MLS and seems to reflect neuroaxonal damage in the peripheral as well as the central nervous system.
Authors: Kevin Peikert; Hannes Glaß; Enrica Federti; Alessandro Matte; Lisann Pelzl; Katja Akgün; Tjalf Ziemssen; Rainer Ordemann; Florian Lang; The Network For Translational Research For Neuroacanthocytosis Patients; Lucia De Franceschi; Andreas Hermann Journal: J Pers Med Date: 2021-05-10
Authors: Antonia Rabe; Alexander Kihm; Alexis Darras; Kevin Peikert; Greta Simionato; Anil Kumar Dasanna; Hannes Glaß; Jürgen Geisel; Stephan Quint; Adrian Danek; Christian Wagner; Dmitry A Fedosov; Andreas Hermann; Lars Kaestner Journal: Biomolecules Date: 2021-05-12