Successful autologous hematopoietic stem cell transplantation in a refractory anti‐Caspr1 antibody nodopathy

Aim Autoimmune nodopathies have specific clinicopathologic features, antibodies directed against nodal proteins (neurofascin 186) or paranodal proteins (neurofascin 155, contactin 1, contactin‐associated protein 1 (Caspr1)), and usually have a poor response to first‐line therapies for chronic inflam...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the peripheral nervous system Vol. 29; no. 1; pp. 116 - 119
Main Authors: Afanasiev, Vadim, Tsouni, Pinelopi, Kuntzer, Thierry, Cairoli, Anne, Delmont, Emilien, Vallat, Jean‐Michel, Devaux, Jérôme, Théaudin, Marie
Format: Journal Article
Language:English
Published: Malden, USA Wiley Periodicals, Inc 01.03.2024
Wiley Subscription Services, Inc
Wiley-Blackwell
Subjects:
Antibodies
anti‐Caspr1 antibodies
Autoantibodies
Autografts
Axons - pathology
Child, Preschool
Contactin
Cyclophosphamide
Demyelination
Female
Hematopoietic Stem Cell Transplantation
Hematopoietic stem cells
Humans
Immunoglobulin G
Immunomodulation
Immunosuppressive agents
Immunotherapy
Inflammation
Life Sciences
Methylprednisolone
Middle Aged
Monoclonal antibodies
Neuropathy
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating - therapy
Proteins
Rituximab
Rituximab - therapeutic use
Stem cell transplantation
hematopoietic stem cell transplantation
anti-Caspr1 antibodies
antibodies
ISSN:1085-9489, 1529-8027, 1529-8027
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Aim Autoimmune nodopathies have specific clinicopathologic features, antibodies directed against nodal proteins (neurofascin 186) or paranodal proteins (neurofascin 155, contactin 1, contactin‐associated protein 1 (Caspr1)), and usually have a poor response to first‐line therapies for chronic inflammatory demyelinating polyradiculoneuropathy. Anti‐Caspr1 nodopathy treated with autologous hematopoietic stem cell transplantation (AHSCT) has not been previously reported. Methods We report the first case of an anti‐Caspr1 antibody‐positive nodopathy refractory to high‐intensity immunosuppressive treatment, including rituximab, that responded dramatically to AHSCT. Results A 53‐year‐old woman presented with a rapidly progressive generalized ataxic, painful motor, and inflammatory neuropathy supported by neurophysiologic and MRI studies. Initial tests for antibodies to nodal/paranodal proteins were negative. She was treated with multiple courses of intravenous immunoglobulin and methylprednisolone, plasma exchange, rituximab, and cyclophosphamide without significant clinical benefit. Repeated testing for antibodies to nodal/paranodal proteins yielded a positive result for anti‐Caspr1/IgG4 isotype antibodies. Given the poor response to multiple high intensity treatments and the relatively young age of the patient, we decided to perform AHSCT at 30 months post‐onset. Immediately after AHSCT, she stopped all immunomodulatory or immunosuppressive therapy. The Overall Neuropathy Limitation Score improved from 8/12 to 4/12 at 6 months post‐AHSCT. At 3 months post‐AHSCT, IgG4 against Caspr1 was negative and no reactivity against paranodes could be detected. Conclusion We report a particularly severe anti‐Caspr1 antibody autoimmune nodopathy that responded dramatically to AHSCT. Although the rarity of the disease limits the possibility of larger studies, AHSCT may be a valuable therapy in treatment‐refractory cases.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
ObjectType-Case Study-2
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1085-9489
1529-8027
1529-8027
DOI:10.1111/jns.12610