Subacute cerebellar ataxia with amphiphysin antibody developing in a patient with follicular thyroid adenoma: a case report

Hirunagi, Tomoki; Sato, Katsunori; Fujino, Masahiko; Tanaka, Keiko; Goto, Yoji; Mano, Kazuo

doi:10.5692/clinicalneurol.cn-000939

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…They target both nuclear and cytoplasmic protein antigens, such as anti-Yo and, anti-Hu, or intracellular synaptic proteins, such as anti-Amphiphysin [11]. Many antibodies have been found to be associated with cerebellar degeneration, especially anti-Yo, anti-Hu, and anti-Amphiphysin antibodies [12,13]. The relationship between these antibodies, whose association with the cerebellum has been demonstrated, in autism has recently begun to be investigated.…”

Section: Discussionmentioning

confidence: 99%

“…Anti-Yo is an antibody against the antigens in the cytoplasm of Purkinje cells and indicates cerebellar degeneration; anti-Hu, anti-Ri and anti-Amphiphysin are antibodies against cellular nuclear antigens, and they become positive in paraneoplastic conditions and neuropathies [10,11]. The association of many antibodies, especially anti-Yo and anti-Hu, anti-Ri, anti-Amphiphysin, with cerebellar degeneration has been demonstrated [12,13]. In a study by Naael et al on the mothers of children with ASD, anti-Yo and anti-Amphiphysin antibodies were found to be significantly higher than in mothers in the healthy control group.…”

Section: Introductionmentioning

confidence: 99%

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Antineuronal antibodies and 8-OHdG an indicator of cerebellar dysfunction in autism spectrum disorder: a case–control study

Kılıçaslan

Ayaydın

Çelik

et al. 2019

Psychiatry and Clinical Psychopharmacology

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Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder, that starts in early childhood and presents with deficiencies in social-communicational domains along with restricted and repetitive behaviours/interests. While genetic factors are dominant in its pathogenesis, many factors, including neurological, environmental and immunological have been identified. Furtheremore, although cerebellar dysfunction in the etiology of autism has been shown in different studies, the possible causes of the dysfunction and the role of neuroinflammation among these causes have not been clarified yet. Anti-Yo, anti-Hu, anti-Ri and anti-Amphiphysin antibodies have been found to be associated with cerebellar degeneration. The aim of the present study was to compare anti-Yo, anti-Hu, anti-Ri and anti-Amphiphysin antibodies and 8-OHdG values in blood using the ELISA method between ASD patients and healthy children to demonstrate the role of neuroinflammation as a potential cause of cerebellar dysfunction and DNA damage and evaluate the relationship between Childhood Autism Rating Scale (CARS) scores in children diagnosed with ASD and these parameters. Methods: Thirty-five consecutive children between the ages of 3 and 12 referred to the Child and Adolescent Psychiatry Outpatient Clinic of Harran University Hospital and diagnosed with ASD according to the DSM-5 diagnostic criteria were included in the study. The children did not have any chronic physical disorders and were treatment naive. Thirty-three healthy children between the ages of 3 and 12 without any physical or psychiatric disorders were included as the healthy control group. For psychiatric evaluation, a sociodemographic form and to measure the severity of autism, CARS was used. In the study, anti-Yo, anti-Hu, anti-Ri and anti-Amphiphysin antibodies and 8-OHdG values in blood were investigated using the ELISA method. Results: Thirty-five cases with autism (62.9% males) and thirty-three healthy controls (72.7% males) were included in the present study (p = 0.385). The median age was 6.0 in the ASD group and 7.0 in the control group (p = 0.146). Among ASD patients, anti-Ri antibody positivity was detected, while no anti-Ri antibody positivity was found in the control group (p = 0.002). In the ASD group, the anti-Hu and 8-OHdG values were found to be significantly higher than those of the controls (p < 0.001, p = 0.001); no significant difference was found between the ASD and control groups with regard to the anti-Yo and anti-Amphiphysin values (p = 0.113, p = 0.275). Conclusions:The results of the present study suggest that antibodies against cerebellum may be present among children with ASD and DNA damage may occur due to oxidative stress.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Antineuronal antibodies and 8-OHdG an indicator of cerebellar dysfunction in autism spectrum disorder: a case–control study

Kılıçaslan

Ayaydın

Çelik

et al. 2019

Psychiatry and Clinical Psychopharmacology

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Paraneoplastic cerebellar degeneration

Nuzhnyi,

Krasnov,

Moskalenko

et al. 2023

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Introduction. Paraneoplastic cerebellar degeneration (PCD) is an immune-mediated and rapidly progressive cerebellar syndrome that develops as a result of a cross-immune response to the common antigens for the tumor and cerebellar cells. Timely diagnosis and treatment of PCD improves the functional status and survival of these patients.Objective. To analyze the clinical, laboratory and neuroimaging characteristics of PCD case series in comparison with literature data.Material and methods. 16 patients with PCD (13 women, 3 men) were examined. An assessment of the clinical presentation, brain MRI study, blood and cerebrospinal fl uid laboratory tests were carried out, the data of cancer search and patients follow-up were analyzed.Results. The median age of PCD patients was 55 years, the duration of the disease was 8.5 months (range 4 to 16 months). In 12 patients, PCD was the fi rst manifestation of cancer. The clinical prentation was presented by rapidly progressive cerebellar ataxia, often in combination with oculomotor disturbances, pyramidal and bulbar syndrome, hand tremor and dystonia. An associated cancers were detected in 13 patients (81%). Antineuronal antibodies were found in 14 patients (88%): anti-Yo-1, antibodies to amphiphysin, anti-Hu, anti-CV2 and anti-GAD. Mild atrophic changes of the cerebellum were found in 6 patients, and in 2 cases cerebellar hemiatrophy was observed.Conclusion. PCD is a rare disabling but potentially curable disease. The basis of diagnosis is the analysis of the clinical presentation and neuroimaging data, the detection of antineuronal antibodies and in fl ammatory changes in the cerebrospinal fl uid, as well as a thorough cancer search.

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Subacute cerebellar ataxia with amphiphysin antibody developing in a patient with follicular thyroid adenoma: a case report

Cited by 2 publications

References 7 publications

Antineuronal antibodies and 8-OHdG an indicator of cerebellar dysfunction in autism spectrum disorder: a case–control study

Antineuronal antibodies and 8-OHdG an indicator of cerebellar dysfunction in autism spectrum disorder: a case–control study

Paraneoplastic cerebellar degeneration

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