Neurochondrin immunoglobulin G – Associated myelopathy – Ataxia syndrome

Dominguez, Lisette; Collazo, I. Vanessa Marin; Sechi, Elia; Bohm, Parker; Chiriboga, Sebastian Lopez

doi:10.1016/j.jns.2021.120058

Cited by 2 publications

(9 citation statements)

References 8 publications

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“…Because of the lack of data so far, it is unclear which condition our patient will suffer. Further studies will have to clarify whether neurochondrin antibodies themselves have pathogenic relevance for cognitive dysfunction, or if they co-exist with other neurological diseases such as ataxia or myelopathy ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Alzheimer's Dementia Associated With Cerebrospinal Fluid Neurochondrin Autoantibodies

Hansen

Malchow²,

Teegen³

et al. 2022

Front. Neurol.

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BackgroundNeurochondrin autoimmunity is a rare disorder mainly associated with cerebellar and vestibular syndromes. Our report aims to enlarge its phenotypic spectrum to encompass major cognitive disorder with very late onset never before reported in conjunction with neurochondrin antibodies.MethodsWe describe the case of an 85-year-old woman who presented in our memory clinic. Retrospective analysis of patient records included cerebrospinal fluid (CSF) analysis, magnetic resonance imaging (MRI), and neuropsychological testing using the CERAD-plus.ResultsBecause of her unknown onset of progressive cognitive dysfunction in conjunction with speech and language problems, we decided to take an extensive differential diagnostic approach including a search for neural autoantibodies potentially involved in cognitive impairment. Our patient presented serum and CSF neurochondrin autoantibodies. Further CSF analysis revealed elevated tau and ptau 181 protein as well as a reduced Aß42/40 ratio in CSF, thus matching a biomarker profile of Alzheimer's disease (AD). Neuropsychological tests revealed predominant and severe deficits in verbal and visual memory. Her MRI showed reduced parietal and cerebellar brain volume.DiscussionTaken together, this case reveals the novelty of a patient with a CSF-based and typical clinical and imaging profile of AD. She is also likely to have neurochondrin autoimmunity, as we detected neurochondrin autoantibodies in her CSF; we therefore diagnosed AD dementia associated with neurochondrin antibodies. Our case expands the spectrum of neurochondrin autoimmunity to disorders involving major cognitive disorder such as AD dementia. Furthermore, we speculate that neurochondrin autoimmunity might have triggered an acceleration of AD symptoms as its onset was reported only after a short 6-month interval via a synergistic or negatively additive hybrid mechanism of action between neurodegeneration and autoimmunity.

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Section: Discussionmentioning

confidence: 99%

Case Report: Alzheimer's Dementia Associated With Cerebrospinal Fluid Neurochondrin Autoantibodies

Hansen

Malchow²,

Teegen³

et al. 2022

Front. Neurol.

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“…Due to the limited available data, it is not possible to predict the optimal choice of therapy. However, in the so far reported anti‐neurochondrin associated neurological disorders, three of four (but all three of three adult) patients (75%) who were treated by B cell depletion predominantly showed progression of the disease [4] (one paediatric patient under B cell depletion showed improvement [18]), whilst patients receiving drugs not selectively targeting B cells seemed to show more frequently an improvement and a stabilization of the disease, respectively (including our case) (cyclophosphamide four of five [80%], azathioprine three of four [75%], mycophenolate two of two [100%]) [3, 4, 15, 16, 19]. Steroids and IVIG were mostly used in combination with other immunotherapies especially for treatment initiation, so their actual effect in isolation is difficult to estimate (improvement and stabilization, respectively, in nine of 14 cases [including our case] [64.3%] who received steroids and seven of 11 patients [63.6%] with IVIG).…”

Section: Literature Reviewmentioning

confidence: 83%

“…So far, only 18 cases (together with the presented case 19 cases) with autoimmunity associated with anti-neurochondrin antibodies have been described, most often with clinically evident cerebellar or brainstem syndromes [3,4,[15][16][17][18][19]. Anti-neurochondrin antibodies belong to those antibodies supporting the diagnosis of PACA [2].…”

Section: Discussionmentioning

confidence: 99%

“…Ten of 19 cases had (at least a slight) clinical improvement (including our patient; 52.6%) [3, 4, 15, 17, 18]. A stabilization of the disease was achieved in four cases [3, 4, 16, 19], whereas a further progression was also observed in four cases (4/19, 21.1%) [4] and one patient died from complications of the neurological progression during the follow‐up (1/19, 5.3%) [4].…”

Section: Literature Reviewmentioning

confidence: 92%

“…In 16 cases (including our case), data of CSF analysis were available (16/19, 84.2%) [3, 4, 7, 12]. CSF pleocytosis was described in 11/16 cases (68.8%) and the detection of CSF‐specific oligoclonal bands and elevated IgG index, respectively, in 11/16 cases (68.8%) [3, 4, 19, 16]. Normal CSF findings were described in three neuropaediatric cases [15, 18].…”

Section: Literature Reviewmentioning

confidence: 99%

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Anti‐neurochondrin antibody as a biomarker in primary autoimmune cerebellar ataxia—a case report and review of the literature

Schwarzwald

Salmen

Betancourt

et al. 2022

Euro J of Neurology

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Background and purpose: Neuronal autoantibodies can support the diagnosis of primary autoimmune cerebellar ataxia (PACA). Knowledge of PACA is still sparce. This article aims to highlight the relevance of anti-neurochondrin antibodies and possible therapeutical consequences in people with PACA.Methods: This is a case presentation and literature review of PACA associated with antineurochondrin antibodies. Results: A 33-year-old man noticed reduced control of the right leg in May 2020. During his first clinic appointment at our institution in September 2021, he complained about gait imbalance, fine motor disorders, tremor, intermittent diplopia and slurred speech. He presented a pancerebellar syndrome with stance, gait and limb ataxia, scanning speech and oculomotor dysfunction. Within 3 months the symptoms progressed. An initial cerebral magnetic resonance imaging, June 2020, was normal, but follow-up imaging in October 2021 and July 2022 revealed marked cerebellar atrophy (29% volume loss). Cerebrospinal How to cite this article: Schwarzwald A, Salmen A, León Betancourt AX, et al. Anti-neurochondrin antibody as a biomarker in primary autoimmune cerebellar ataxia-a case report and review of the literature.

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Neurochondrin immunoglobulin G – Associated myelopathy – Ataxia syndrome

Cited by 2 publications

References 8 publications

Case Report: Alzheimer's Dementia Associated With Cerebrospinal Fluid Neurochondrin Autoantibodies

Case Report: Alzheimer's Dementia Associated With Cerebrospinal Fluid Neurochondrin Autoantibodies

Anti‐neurochondrin antibody as a biomarker in primary autoimmune cerebellar ataxia—a case report and review of the literature

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