Dataset Information

Parkinsonism and dysautonomia with anti-CV2/CRMP5 associated paraneoplastic neurological syndromes mimicking multiple system atrophy: a case report.

ABSTRACT:

Background

Paraneoplastic neurological syndromes (PNSs) are broad-spectrum disorders that can affect any part of the nervous system varying in core symptoms. Onconeural antibodies, including Hu, Yo, Ri, anti-CV2, amphiphysin, Ma2, and Tr are well-characterized and commonly used for the diagnosis of definite PNS. Generally, anti-CV2 antibodies have usually been associated with cerebellar ataxia, chorea, peripheral and autonomic neuropathies, myelopathy, optic neuritis, and retinitis. However, Parkinsonism has not been reported as the core symptom in patients with anti-CV2 antibodies.

Case presentation

We report a patient with anti-CV2 antibody manifested as Parkinsonism and autonomic dysfunction, which may lead to the diagnosis of multiple system atrophy with predominant Parkinsonism (MSA-P). A lumbar puncture examination was undergone to find a positive anti-CV2 antibody in cerebrospinal fluid. PET-CT showed no tumor. Immunotherapy was adopted and the symptoms were relieved for 5 months. However, with no evidence of tumor, he died after 8 months.

Conclusions

Our findings indicate that PNS with anti-CV2 antibody can be shown as MSA-P mimic. Considering that MSA is a neurodegenerative disease with a poor prognosis, screening for other treatable or controllable factors like PNS presented in this case is necessary when encountering a rapid progressive MSA-mimic patient.

SUBMITTER: Song J

PROVIDER: S-EPMC8547084 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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Publications

Parkinsonism and dysautonomia with anti-CV2/CRMP5 associated paraneoplastic neurological syndromes mimicking multiple system atrophy: a case report.

Song Jia J Zhang Ying Y Lang Yue Y Wang Yi-Heng YH Shao Jie J Cui Li L

BMC neurology 20211026 1

<h4>Background</h4>Paraneoplastic neurological syndromes (PNSs) are broad-spectrum disorders that can affect any part of the nervous system varying in core symptoms. Onconeural antibodies, including Hu, Yo, Ri, anti-CV2, amphiphysin, Ma2, and Tr are well-characterized and commonly used for the diagnosis of definite PNS. Generally, anti-CV2 antibodies have usually been associated with cerebellar ataxia, chorea, peripheral and autonomic neuropathies, myelopathy, optic neuritis, and retinitis. Howe ...[more]

PMID: 34702214

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Project description:ImportanceLittle is known of glutamic acid decarboxylase antibodies (GAD-abs) in the paraneoplastic context. Clinical recognition of such cases will lead to prompt tumor diagnosis and appropriate treatment.ObjectiveTo report the clinical and immunological features of patients with paraneoplastic neurological syndromes (PNS) and GAD-abs.Design, setting, and participantsRetrospective case series study and immunological investigations conducted in February 2014 in a center for autoimmune neurological disorders. Fifteen cases with GAD65-abs evaluated between 1995 and 2013 who fulfilled criteria of definite or possible PNS without concomitant onconeural antibodies were included in this study.Main outcomes and measuresAnalysis of the clinical records of 15 patients and review of 19 previously reported cases. Indirect immunofluorescence with rat hippocampal neuronal cultures and cell-based assays with known neuronal cell-surface antigens were used. One hundred six patients with GAD65-abs and no cancer served as control individuals.ResultsEight of the 15 patients with cancer presented as classic paraneoplastic syndromes (5 limbic encephalitis, 1 paraneoplastic encephalomyelitis, 1 paraneoplastic cerebellar degeneration, and 1 opsoclonus-myoclonus syndrome). When compared with the 106 non-PNS cases, those with PNS were older (median age, 60 years vs 48 years; P = .03), more frequently male (60% vs 13%; P < .001), and had more often coexisting neuronal cell-surface antibodies, mainly against γ-aminobutyric acid receptors (53% vs 11%; P < .001). The tumors more frequently involved were lung (n = 6) and thymic neoplasms (n = 4). The risk for an underlying tumor was higher if the presentation was a classic PNS, if it was different from stiff-person syndrome or cerebellar ataxia (odds ratio, 10.5; 95% CI, 3.2-34.5), or if the patient had coexisting neuronal cell-surface antibodies (odds ratio, 6.8; 95% CI, 1.1-40.5). Compared with the current series, the 19 previously reported cases had more frequent stiff-person syndrome (74% vs 13%; P = .001) and better responses to treatment (79% vs 27%; P = .005). Predictors of improvement in the 34 patients (current and previously reported) included presentation with stiff-person syndrome and the presence of a thymic tumor.Conclusions and relevancePatients with GAD-abs must be screened for an underlying cancer if they have clinical presentations different from those typically associated with this autoimmunity or develop classic PNS. The risk for cancer increases with age, male sex, and the presence of coexisting neuronal cell-surface antibodies.

Project description:BackgroundParaneoplastic antibodies are implicated in heterogeneous clinical presentations. Commercial immunoassays include indirect immunofluorescence (IIF), and line immunoblot (LIB). LIB can be associated with false positives, and unfortunately, further confirmatory assays are not readily available in diagnostic laboratories.ObjectivesTo determine frequency of positive LIB on serum or cerebrospinal fluid (CSF) using EUROLine paraneoplastic neurological syndromes (PNS) 12 Ag Test kit (EuroImmun, Germany) and establish concordance with IIF on Nova Lite kit (Inova Diagnostics, United States) and clinical presentation.MethodsA retrospective analysis of all LIB performed over a four-year period was undertaken. Healthy control samples were also analysed with IIF and LIB.ResultsTwo thousand and eighty-one LIB samples were processed, 91 (4.4%) were positive from 69 patients with a median age of 64 years. There were 37 females (53.6%). Some samples had two antibody specificities (n = 6, 6.6%). Of those with one antibody, GAD65 (n = 22), Yo (n = 19), SOX1 (n = 17) and amphiphysin (n = 14) were most frequent. Of the positive LIBs, 80 (87.9%) had concurrent IIF and eight samples (10%) had a typical IIF pattern. Clinical relevance of a positive LIB, irrespective of IIF, was seen in 15/91 samples (14.3%) from nine patients; GAD65 (n = 3), Hu (n = 2), amphiphysin (n = 1), Yo (n = 1), Tr (n = 1) and CV2 (n = 1). Of the 71 healthy controls, five (7.0%) had a positive LIB: medium band (n = 4, 5.6%: amphiphysin, CV2, SOX1 and Yo) and strong band (n = 1, 1.4%: Yo). All IIF were negative. On average, signal intensity (SI) was higher in those with disease (SI 77.3/very strong band) compared to those without (SI 28.6/strong band) and healthy controls (SI 2/negative band) (p < 0.0001).DiscussionLIB has a high false positive rate, and in this cohort, there were more false than true positive results. The assay must be used in those with a high clinical suspicion for PNS. While the commercial IIF kit is a useful test, it is insufficient to be used as a screening strategy in isolation.

Dataset Information

Parkinsonism and dysautonomia with anti-CV2/CRMP5 associated paraneoplastic neurological syndromes mimicking multiple system atrophy: a case report.

Background

Case presentation

Conclusions

Publications

Parkinsonism and dysautonomia with anti-CV2/CRMP5 associated paraneoplastic neurological syndromes mimicking multiple system atrophy: a case report.

Similar Datasets

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