Atypical White Matter Hyperintensities Markedly Impact Plasma Neurofilament Light Chain Variability in GRN Patients

Author:

Vítor Joana1,Saracino Dario12,Ströer Sebastian3,Camuzat Agnès1,Dorgham Karim4,Clot Fabienne5,Martin-Hardy Philippe1,Pasquier Florence6,Le Ber Isabelle12,

Affiliation:

1. Sorbonne Université, Paris Brain Institute, Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225, APHP, Hôpital Pitié-Salpêtrière, Paris, France

2. AP-HP, Reference Centre for Rare or Early onset Dementias, IM2A, Department of Neurology, Hôpital Pitié-Salpêtrière, Paris, France

3. Department of Neuroradiology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

4. Sorbonne Université, INSERM, Centred’Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), Paris, France

5. AP-HP.Sorbonne Université, Department of Genetics, UF of Molecular and Cellular Neurogenetics, Hôpital Pitié-Salpêtrière, Paris, France

6. Univ Lille, Inserm 1172 LilNCOG, CHU Lille, CNR-MAJ, DistAlz, LiCEND Lille, France

Abstract

GRN mutations, causing frontotemporal dementia, can be associated with atypical white matter hyperintensities (WMH). We hypothesized that the presence of WMH may impact neurofilament light chain (NfL) levels, markers of neuroaxonal damage. We analyzed plasma NfL in 20 GRN patients and studied their association to visually-scored WMH burden. The 12 patients displaying atypical WMH had significantly higher NfL levels (98.4±34.9 pg/mL) than those without WMH (47.2±29.4 pg/mL, p = 0.003), independently from age, disease duration and Fazekas-Schmidt grade. NfL correlated with WMH burden (rho = 0.55, p = 0.01). This study prompts considering WMH burden as a variability factor when evaluating NfL levels in GRN patients.

Publisher

IOS Press

Subject

Psychiatry and Mental health,Geriatrics and Gerontology,Clinical Psychology,General Medicine,General Neuroscience

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