Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia

Zhang, Weihua; Ren, Haitao; Fang, Fang; Xunzhe, Yang; Wang, Jing; Guan, Hongzhi

doi:10.1007/s12311-019-01048-y

Cited by 26 publications

(16 citation statements)

References 14 publications

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“…In this situation, steroids and intravenous immunoglobulins may be used at presentation before mycophenolate has its full effect. Such successful combinations of immunomodulation that include mycophenolate have already been published as case reports or small series [10][11][12].…”

Section: Discussionmentioning

confidence: 99%

Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate

et al. 2020

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Immune-mediated ataxias account for a substantial number of sporadic otherwise idiopathic ataxias. Despite some wellcharacterised entities such as paraneoplastic cerebellar degeneration where diagnostic markers exist, the majority of immune ataxias remained undiagnosed and untreated. We present here our experience in the treatment of suspected primary autoimmune cerebellar ataxia (PACA) using mycophenolate. All patients reported attend the Sheffield Ataxia Centre on a regular basis and had undergone extensive investigations, including genetic testing using next-generation sequencing, with other causes of ataxia excluded. The diagnosis of PACA was strongly suspected based on investigations, pattern of disease progression, and cerebellar involvement. Patients were treated with mycophenolate and monitored using MR spectroscopy of the cerebellar vermis. Thirty patients with PACA are reported here. Of these, 22 received mycophenolate (group 1). The remaining 8 were not on treatment (group 2-control group). Out of the 22 treated patients, 4 underwent serial MR spectroscopy prior to starting treatment and thus were used as controls making the total number of patients in the control group 12. The mean change of the MRS within the vermis (NAA/Cr area ratio) in the treatment group was + 0.144 ± 0.09 (improved) and in the untreated group − 0.155 ± 0.06 (deteriorated). The difference was significant. We also demonstrated a strong correlation between the spectroscopy and the SARA score. We have demonstrated the effectiveness of mycophenolate in the treatment of PACA. The results suggest that immune-mediated ataxias are potentially treatable, and that there is a need for early diagnosis to prevent permanent neurological deficit. The recently published diagnostic criteria for PACA would hopefully aid the diagnosis and treatment of this entity.

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Section: Discussionmentioning

confidence: 99%

Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate

et al. 2020

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“…The broader impairment of neuronal networks contributing to cognition can be assumed due to the ubiquitous brain localization of MOG antibodies, as these autoantibodies induce experimental autoimmune encephalitis (Wegener and Panzer 2020). The specific interaction between relevant brain regions in cognition [such as the cerebellum and limbic system termed limbic cerebellum (Schmahmann 2019)] might be impaired by the accumulation of specific autoantibodies such as ITPR1 antibodies known to induce a form of autoimmune cerebellar ataxia (Weihua et al 2019).…”

Section: Spectrum Of Specific Autoantibodies Associated With Cognitive Impairmentmentioning

confidence: 99%

Neural cell-surface and intracellular autoantibodies in patients with cognitive impairment from a memory clinic cohort

et al. 2021

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Autoantibody-associated cognitive impairment is an expanding field in geriatric psychiatry. We aim to assess the association between the presence of specific neural autoantibodies and cognitive performance in a memory clinic cohort. 154 patients with cognitive impairment were included between 2019 and 2020 presenting initially in a memory clinic. We evaluated their patient files retrospectively applying epidemiologic parameters, psychopathology, neuropsychology, intracellular and membrane-surface autoantibodies in serum and cerebrospinal fluid (CSF) and markers of neurodegeneration in CSF. In 26 of 154 patients, we searched for neural autoantibodies due to indicators for autoimmunity. In 15/26 (58%) of patients we detected serum and/or CSF autoantibodies. We identified autoantibodies against intracellular or cell-surface antigens in 7 of all 26 (27%) patients with cognitive dysfunction, although we cannot exclude patients with potential specific autoantibodies lacking autoimmune indicators. There were no significant differences between psychopathological and neuropsychological profiles in groups of patients with cognitive impairment comprising patients with autoantibodies (ABS + COG), no autoantibodies (ABS − COG), and Alzheimer’s disease (ADCOG). Concerning our CSF parameters, we detected intrathecal IgG synthesis in 14% of ABS + COG and in 13% of ABS − COG patients, whereas no intrathecal IgG synthesis was found in ADCOG patients. Furthermore, CSF Aß42 was significantly diminished in the ADCOG compared to the ABS + COG group (p < 0.05). In addition, the Aß42/40 ratio was lower in ADCOG patients than in the ABS + COG or ABS − COG group (p < 0.05). Our findings reveal the underestimated occurrence and autoantibodies’ potential role in patients presenting cognitive impairment. Furthermore, the patients with possible Alzheimer’s disease might be differentiated from autoantibody-positive patients via a reduced Aß42 and Aß42/40 ratio in the CSF. The antibody-type varies between patients to a relevant degree, thus demonstrating the need for more research to identify subgroup-specific phenotypes. These pilot study results open an avenue for improving diagnosis and treatment in a memory clinic.

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“…Miske reported the first case series of three autoimmune ataxias related to anti-NCDN antibodies in adults in 2016 (18). Our team reported the second series in 2019 (19). TBA and CBA were simultaneously used to identify the anti-NCDN antibody.…”

Section: Anti-ncdn Antibodymentioning

confidence: 99%

Autoimmune cerebellar ataxia associated with anti-Purkinje cells antibodies: the next frontier of neuroimmunology

Zhang¹,

Ren²,

Ren³

et al. 2023

Ann Transl Med

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Autoimmune cerebellar ataxia (ACA) is an important cause of sporadic cerebellar ataxia.Technological innovation promotes the rapid development of cerebellar autoimmunity researches in recent years. More and more new antibodies have been proposed to be associated with ACA. Several autoantibodies against Purkinje cells (PCs) have been identified, which constitute the main components. These autoantigens are mainly located in the cytoplasm and dendrites of PCs, and exhibit a specific morphology in immunohistochemistry (IHC). Although the clinical features are relatively homogeneous, there were still some differences among different antibodies. Due to the lack of understanding of the disease and the limited detection technology, it is really difficult to diagnose and manage at present. However, unlike the most of hereditary ataxias, ACA is treatable, and even the neurological dysfunction of some patients may be reversible. Therefore, promptly identification, diagnosis and treatment may benefit some patients. Thus, this article elaborates on the clinical manifestations and laboratory characteristics of anti-PCs-antibodyassociated ACA in order to help neurologists to understand ACA more comprehensively. At the same time, combining our previous exploratory work as well as the technology available, we try to propose a diagnostic strategy for ACA the text and the relevant differential diagnosis was illustrated in detail.

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Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia

Cited by 26 publications

References 14 publications

Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate

Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate

Neural cell-surface and intracellular autoantibodies in patients with cognitive impairment from a memory clinic cohort

Autoimmune cerebellar ataxia associated with anti-Purkinje cells antibodies: the next frontier of neuroimmunology

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