# Case Report: Combined central and peripheral nerve demyelination with neurofilament heavy chain antibodies

**Authors:** Xue-Lu Zhao, Ze-Yu Zhao, Chun-Lin Yang, Hua Xu, Min Zhang, Guan-Qing Wang, Ying Liu, Yan-Bin Li, Rui-Sheng Duan, Xiao-Li Li

PMC · DOI: 10.3389/fimmu.2026.1734707 · 2026-02-25

## TL;DR

A rare case of combined central and peripheral nerve demyelination is reported in a patient with specific antibodies, showing improvement with corticosteroid and cyclophosphamide treatment.

## Contribution

This case report highlights the rare association of NF-H-IgG antibodies with CCPD and successful treatment with corticosteroids and cyclophosphamide.

## Key findings

- A patient with CCPD tested positive for NF-H-IgG antibodies in both CSF and serum.
- The patient showed marked clinical improvement after treatment with corticosteroids and cyclophosphamide.
- Electrophysiological evaluations indicated demyelinating peripheral neuropathy with secondary axonal involvement.

## Abstract

Combined central and peripheral demyelination (CCPD) is a rare chronic demyelinating disorder. Neurofilament (NF) proteins are structural components specific to neuronal intermediate filaments within axons. The presence of anti-neurofilament antibodies is typically associated with axonal pathology and is seldom observed in patients with CCPD. We present a case of CCPD in a patient who tested positive for immunoglobulin G (IgG) antibodies against the neurofilament heavy chain (NF-H-IgG) in both cerebrospinal fluid (CSF) and serum. Since 2019, the patient has exhibited a constellation of neurological symptoms, including severe neck and shoulder pain, left-sided limb weakness, distal extremity numbness, left-eye visual blurring, and impaired deep sensation. Electrophysiological and clinical evaluations indicated a primarily demyelinating peripheral neuropathy with secondary axonal involvement. Following treatment with low-dose corticosteroids in combination with cyclophosphamide (CTX), the patient demonstrated marked clinical improvement.

## Linked entities

- **Chemicals:** cyclophosphamide (PubChem CID 2907)

## Full-text entities

- **Genes:** NEFH (neurofilament heavy chain) [NCBI Gene 4744] {aka CMT2CC, NFH}
- **Diseases:** left (MESH:D018487), eye visual blurring (MESH:D014786), neck and shoulder pain (MESH:D020069), limb weakness (MESH:D018908), demyelinating peripheral neuropathy (MESH:D011129), CCPD (MESH:D003711), impaired deep sensation (MESH:D006987)
- **Chemicals:** CTX (MESH:D003520)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12975980/full.md

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Source: https://tomesphere.com/paper/PMC12975980