Publication: Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome
Issued Date
2019-11-12
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ISSN
1526632X
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2-s2.0-85074874742
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Mahidol University
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SCOPUS
Bibliographic Citation
Neurology. Vol.93, No.20 (2019), e1873-e1880
Suggested Citation
Divyanshu Dubey, Jiraporn Jitprapaikulsan, Hongyan Bi, Rocio Vazquez Do Campo, Andrew McKeon, Sean J. Pittock, Janean K. Engelstad, John R. Mills, Christopher J. Klein Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome. Neurology. Vol.93, No.20 (2019), e1873-e1880. doi:10.1212/WNL.0000000000008472 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/51312
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Title
Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome
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Abstract
© 2019 American Academy of Neurology. OBJECTIVE: To define the clinicopathologic features of amphiphysin-immunoglobulin G (IgG)-mediated neuropathy. METHODS: Patients examined at our institution from January 1, 1995, to September 30, 2018, with amphiphysin-IgG by indirect immunofluorescence and Western blot, were reviewed. Their phenotypes were compared to cases of coexisting collapsin response-mediator protein-5 (CRMP5)-IgG or anti-neuronal nuclear antibody type 1 (ANNA1-IgG) and CRMP5-IgG autoimmunity. Improvement in modified Rankin Scale (mRS) (≥1) on follow-up was considered a favorable outcome. Amphiphysin RNA expression was assessed in healthy nerves. RESULTS: Fifty-three amphiphysin-IgG-positive cases were identified. Of 33 (60%) patients with neuropathy, 21 had amphiphysin-IgG alone, and 12 had coexisting autoantibodies (ANNA1-IgG, n = 8; CRMP5-IgG, n = 2; ANNA1-IgG and CRMP5-IgG, n = 2). The neuropathies in isolated amphiphysin-IgG autoimmunity included polyradiculoneuropathy (62%), diffuse sensory neuronopathy (35%), and facial neuropathy with gastroparesis (3%). Among these, pain (80%), breast cancer (63%), and CNS (57%) involvements commonly coexisted, and neuropathy frequently prompted breast cancer diagnosis (76%). Stiff-person spectrum disorder was the most common CNS accompaniment (45%). Nerve biopsies showed axonal loss (n = 6/6), subperineurial edema (n = 4/6), and CD4 predominant inflammation (n = 2/6). Median mRS score at last follow-up was 3.5; 58% of patients were immunotherapy-responsive. Patients with amphiphysin-IgG alone had more favorable immunotherapy response than patients with CRMP5-IgG polyneuropathy (n = 45) (44% vs 16%, p = 0.028, odds ratio 4.2, 95% confidence interval 1.1 to 15.5). Only 1/9 (11%) patients with amphiphysin-IgG with coexisting CRMP5-IgG or ANNA1-IgG had immunotherapy response. RNA amphiphysin expression occurred at low levels in nerve. CONCLUSION: Amphiphysin-IgG autoimmune neuropathy has a recognizable phenotype, is frequently immune responsive, and can prompt early diagnosis of breast cancer.