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Update on Opsoclonus–Myoclonus Syndrome in Adults

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Update on Opsoclonus–Myoclonus Syndrome in Adults Journal of Neurology (2019) 266:1541–1548 https://doi.org/10.1007/s00415-018-9138-7 NEUROLOGICAL UPDATE Update on opsoclonus–myoclonus syndrome in adults Sun‑Young Oh1,2 · Ji‑Soo Kim3,4 · Marianne Dieterich5,6,7 Received: 31 August 2018 / Revised: 17 November 2018 / Accepted: 21 November 2018 / Published online: 27 November 2018 © Springer-Verlag GmbH Germany, part of Springer Nature 2018 Abstract Opsoclonus–myoclonus syndrome in adults is a rare and heterogeneous disorder with the clinical features of opsoclonus, myoclonus, ataxia, and behavioral and sleep disturbances. The pathophysiology is thought to be immunological on the basis of paraneoplastic or infectious etiologies. Immunomodulatory therapies should be performed although the response may be incomplete. A number of autoantibodies have been identified against a variety of antigens, but no diagnostic immunological marker has yet been identified. This review focuses on underlying mechanisms of opsoclonus–myoclonus syndrome, including findings that have been identified recently, and provides an update on the clinical features and treatments of this condition. Keywords Opsoclonus–myoclonus syndrome · Autoimmune · Encephalitis · Paraneoplastic · Antibodies Introduction disturbances, cognitive impairments, and behavioral disrup- tion. The etiology of OMS in adults varies and includes par- Opsoclonus–myoclonus syndrome (OMS) is a disorder that aneoplastic, parainfectious, toxic-metabolic, and idiopathic classically causes opsoclonus which consists of bursts of causes. Humoral and cell-mediated immune mechanisms high-frequency oscillations of the eyes with horizontal, ver- have both been implicated and a variety of paraneoplastic tical, and torsional saccades as well as myoclonus (nonepi- and cell surface autoantibodies have been detected. Para- leptic involuntary jerks of the limbs and trunk) and ataxia neoplastic OMS [2] is usually observed in pediatric patients [1]. Affected patients may suffer from oscillopsia (illusory with neuroblastoma [3] or in adult patients with antineuronal motion of the visual world) and vertigo as well as sleep nuclear antibody type 2 (ANNA-2, anti-Ri) accompanying breast adenocarcinoma [4] or small cell lung cancer (SCLC) [5]. However, the majority of patients with OMS are seron- * Sun-Young Oh [email protected] egative for all known antineuronal antibodies [6]. In this review, the clinical and immunological features, 1 Department of Neurology, Chonbuk National University pathogenesis and treatment options for OMS in adults are School of Medicine, 20 Geonji-ro, Deokjin-gu, Jeonju, summarized with a particular focus on recent advances in Chonbuk 561-712, South Korea our understanding of OMS pathophysiology based on immu- 2 Research Institute of Clinical Medicine of Chonbuk National nologic and neuroimaging studies. University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, South Korea 3 Department of Neurology, Seoul National University College Clinical presentation of Medicine, Seoul, South Korea 4 Department of Neurology, Dizziness Center, Clinical Neuroscience Center, Seoul National University Bundang Opsoclonus consists of back-to-back multidirectional con- Hospital, Seongnam, South Korea jugate saccades without an inter-saccadic interval, with an 5 Department of Neurology, Ludwig-Maximilians-University, amplitude ranging from 18° to 58° and a rate of 10–25 Hz Munich, Germany [1]. Ocular flutter shares the same properties as opsoclonus, 6 German Center for Vertigo and Balance Disorders but is limited to one plane, usually horizontal saccades with (IFBLMU), Ludwig-Maximilians University, Munich, varying amplitudes. The term ‘opsoclonus–myoclonus syn- Germany drome’ refers to continuous opsoclonus that is accompanied 7 Munich Cluster for Systems Neurology (SyNergy), Munich, by ataxia, encephalopathy, and myoclonus [1]. Although Germany Vol.:(0123456789)1 3 1542 Journal of Neurology (2019) 266:1541–1548 opsoclonus and myoclonus are the most distinctive signs, because of the issue of atypical presentations of the disorder, they may be absent [7, 8]. In one study, about 20% of OMS we introduced diagnostic criteria for OMS which had previ- patients had atypical presentations with a delayed onset of ously been proposed by an expert panel [14]; the diagnosis opsoclonus and marked asymmetry of ataxia for which they of OMS should be made when three of four features are pre- can be misdiagnosed as having a cerebellar ataxia or epi- sent: opsoclonus, myoclonus or ataxia, behavioral changes leptic seizures [2]. Other, related clinical presentations that or sleep disturbances, and tumorous conditions or presence should be recognized as possibly paraneoplastic include of antineuronal antibodies (Table 1). opsoclonus only [9], or without opsoclonus, progressive encephalomyelitis with rigidity and myoclonus [10], and iso- lated generalized small-amplitude limb and axial myoclonus Immunological features [11]. This latter group presents with myoclonus, but with- out opsoclonus and, therefore, may receive misdiagnosis as A recent clinical and immunologic study reported that OMS tremor or other paraneoplastic disorders. Diagnostic delays is paraneoplastic in 39% (45/114) and idiopathic in 61% can be problematic; in previous studies, the average diag- of cases (69/114) (Fig. 1) [6]. Humoral and cell-mediated nostic delay from symptom onset was 11 weeks [12, 13]. In immune mechanisms have both been implicated in paraneo- patients with delay in diagnosis of more than 2 months, there plastic and idiopathic OMS [15]. A number of autoantibod- have been consistent trends towards worse neurological, neu- ies have been associated with paraneoplastic OMS includ- ropsychological, and behavioral outcomes [13]. Therefore, ing antibodies against Ri (ANNA-2) [16], Hu (ANNA-1) [17], Yo (PCA-1) [18], Ma1 [19], Ma2 [19, 20], N-methyl- D-aspartate (NMDA) receptor [21], amphiphysin [22, 23], Table 1 Proposed diagnostic criteria for opsoclonus myoclonus syn- CRMP-5/anti-CV2 [24], Zic2 [25], and neurofilaments [26]. drome (OMS) In patients with paraneoplastic OMS, small cell lung cancer At least three of four supportive findings (SCLC), breast carcinoma, and ovarian teratoma were the Opsoclonus most frequent neoplasms identified. Onconeuronal antibod- Myoclonus and/or ataxia ies occurred in 11% of patients, mostly Ri/ANNA2 anti- Behavioral change and/or sleep disturbance bodies, which were detected in 70% of patients with breast Tumorous conditions and/or presence of antineuronal antibodies cancer [27–29]. Neuronal surface antibodies, mainly glycine Fig. 1 Clinical assessment of opsoclonus myoclonus syndromes. Ab antibody, FDG PET fluorodeoxyglucose positron emission tomography, TAP-CT thoraco-abdomino-pelvic computed tomography 1 3 Journal of Neurology (2019) 266:1541–1548 1543 receptor antibodies, were identified in 11% of patients, most Furthermore, treatments such as corticosteroids or intra- of whom had paraneoplastic OMS with lung cancer. Other venous immunoglobulin (IVIG) alone or combined with oncologic associations include neoplasms of the gynecologic antimicrobial therapy are usually successful. This suggests [30–34], urologic [28, 35], hematologic [36] and gastroin- that an infectious process may play a role in activating the testinal systems [29], and melanoma [37, 38]. A novel cell immunological system in this condition in some patients [9, surface epitope, human natural killer 1 (HNK-1), was also 55, 61, 62]. the target of the antibodies in 3 patients with lung cancer One study revealed that parents of children with OMS and paraneoplastic OMS [6]. However, these paraneoplastic (15.8%) report an autoimmune disorder more frequently, intracellular antibodies, including anti-Ri and anti-Hu anti- including autoimmune thyroid disease, rheumatoid arthritis, body, and antibodies against the cell surface NMDA recep- systemic lupus erythematosus, and type 1 insulin-dependent tor, have rarely been identified in patients with OMS despite diabetes, compared with control parents (2%) [63]. Although comprehensive serologic evaluations [21, 23, 39, 40]. Fur- these intriguing findings support the idea of genetic predis- thermore, the diversity of reported paraneoplastic autoanti- position in OMS, the specific genes involved have not yet bodies, including those with specificity for other neuronal been identified. Rarely nonparaneoplastic and nonparainfec- nuclear antigens [29, 41], NMDA receptors [21, 42], and tious autoimmune OMS have been reported in association neuronal calcium channels [43, 44], serves to emphasize with GAD65 antibody-associated OMS [64] and pregnancy- the importance of comprehensive paraneoplastic serological related OMS mimicking chorea gravidarum [65]. These are evaluations rather than syndrome-specific physician-selected similarly responsive to immunotherapy [66]. antibody testing in OMS patients. Therefore, at present, though useful in selected cases, none of these autoantibod- ies appear to be sensitive for the majority of OMS patients. Pathogenesis In addition to serum autoantibodies against neuronal tis- sues in patients with OMS, other pieces of evidence for an As the eye movements in opsoclonus or ocular flutter are autoimmune process include the presence of B-cell acti- saccadic in origin, an early hypothesis was that opsoclonus vating factor (BAFF), which is a key molecule involved in is due to damage of the omnipause neurons (OPN) in the B-cell survival [45], in the serum and cerebrospinal fluid of nucleus raphe interpositus
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