Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker

Introduction/Aims The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance...

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Published in:Muscle & nerve 2024-04, Vol.69 (4), p.422-427
Main Authors: Kleinveld, Vera E. A., Keritam, Omar, Horlings, Corinne G. C., Cetin, Hakan, Wanschitz, Julia, Hotter, Anna, Zirch, Laura S., Zimprich, Fritz, Topakian, Raffi, Müller, Petra, Oel, Dierk, Quasthoff, Stefan, Erdler, Marcus, Rauschka, Helmut, Grinzinger, Susanne, Jecel, Julia, Gaulhofer, Petra, Castek, Barbara, Stadler, Klaus, Löscher, Wolfgang N.
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - diagnosis
biomarker
Biomarkers
diagnosis
Humans
Intermediate Filaments
multifocal motor neuropathy
neurofilament
Neurofilament Proteins
Polyneuropathies - diagnosis
Prognosis
Progressive motor neuropathy
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Summary:Introduction/Aims The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS. Methods NfL was measured in serum in n = 37 patients with MMN and n = 37 age‐ and sex‐matched patients with LMN dominant ALS, to determine the diagnostic accuracy. Clinical and demographic data were obtained at the time of NfL sampling. Results Serum NfL concentration was significantly lower in MMN patients compared to ALS patients (mean 20.7 pg/mL vs. 59.4 pg/mL, p 
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.28054