The clinical features, underlying immunology, and treatment of autoantibody‐mediated movement disorders

Damato, Valentina; Balint, Bettina; Kienzler, Anne‐Kathrin; Irani, Sarosh R.

doi:10.1002/mds.27446

Cited by 47 publications

(24 citation statements)

References 117 publications

(339 reference statements)

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“…By contrast, in recent years, a group of autoimmune encephalitis (AE) syndromes have been characterised by the detection of autoantibodies in serum and/or cerebrospinal fluid (CSF) which target the extracellular domains of specific neuroglial cell-surface antigens [2,3,[7][8][9][10]. These autoantibodies can access their target antigens in vivo, and it is now widely accepted that their disruption of the target antigen results in the observed neurological sequelae [6,7,[11][12][13][14]. Therefore, these antibodies have pathogenic potential and their early and accurate detection is critical for two main pragmatic clinical reasons.…”

Section: Introductionmentioning

confidence: 99%

The autoantibody-mediated encephalitides: from clinical observations to molecular pathogenesis

et al. 2019

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The autoimmune encephalitis (AE) syndromes have been characterised by the detection of autoantibodies in serum and/or cerebrospinal fluid which target the extracellular domains of specific neuroglial antigens. The clinical syndromes have phenotypes which are often highly characteristic of their associated antigen-specific autoantibody. For example, the constellation of psychiatric features and the multi-faceted movement disorder observed in patients with NMDAR antibodies are highly distinctive, as are the faciobrachial dystonic seizures observed in close association with LGI1 antibodies. These typically tight correlations may be conferred by the presence of autoantibodies which can directly access and modulate their antigens in vivo. AE remains an under-recognised clinical syndrome but one where early and accurate detection is critical as prompt initiation of immunotherapy is closely associated with improved outcomes. In this review of a rapidly emerging field, we outline molecular observations with translational value. We focus on contemporary methodologies of autoantibody detection, the evolution and distinctive nature of the clinical phenotypes, generalisable therapeutic paradigms, and finally discuss the likely mechanisms of autoimmunity in these patients which may inform future precision therapies.

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Section: Introductionmentioning

confidence: 99%

The autoantibody-mediated encephalitides: from clinical observations to molecular pathogenesis

et al. 2019

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“…SPS may be associated with immunological or paraneoplastic syndromes [1][2][3]. The presence of tumoral and immunologic Ab has been described in SPS.…”

Section: Discussionmentioning

confidence: 99%

“…The presence of tumoral and immunologic Ab has been described in SPS. These Ab may be intra-or extracellular [3].…”

Section: Discussionmentioning

confidence: 99%

“…We have centered our focus just on the immunological ones, mentioning N-methyl-D-aspartate receptor in encephalitis with early psychiatric and cognitive features, leucine-rich glioma-inactivated 1 with brief dystonic movements, contactin-associated protein-like 2 that are juxtaparanodal protein Ab, with multiple neuromyotonic choreic, ataxic, and myoclonic movements, aquaporin-4 and myelin oligodendrocyte glycoprotein with the optic neuromyelitis spectrum, and IgLON5-associated sleep behavior disorder with bulbar involvement. GAD65 Ab were mostly detected in SPS and clinically associated with a fluctuating muscle stiffness, muscle spasms, and hyperreflexia [3].…”

Section: Discussionmentioning

confidence: 99%

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Stiff Person Syndrome and Acetylcholine Receptor Ganglionic Neuronal Antibodies

Lester¹,

Cojab²,

Klériga³

2020

Case Rep Neurol

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The association between stiff person syndrome and paraneoplastic syndromes has been described, linking intracellular or extracellular antibodies. We describe the case of a 64-year-old woman with stiff person syndrome and positivity for acetylcholine receptor ganglionic neuronal antibodies, which can also be seen in muscular hyperexcitability conditions, as well as other paraneoplastic syndromes. The relevance of this report is the possible direct elevation of this antibody due to a direct immunological cause. Acetylcholine receptor ganglionic neuronal antibodies have been reported with autoimmune autonomic neuropathy and paraneoplastic syndromes linked to lung cancer and myastheniform syndromes, as well as in some muscular hyperexcitability states, but not in stiff person syndrome.

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“…Several autoantibody-mediated movement disorders may present as an emergency, where early recognition and starting immunotherapy gives a better outcome 44. Often, they have subacute onset and present as part of an autoimmune encephalitis, with a mixed movement disorder presentation (see table 3).…”

Section: Part Two: Hyperkinetic Movement Disordersmentioning

confidence: 99%

Emergency presentations of movement disorders

Gandhi

Marshall

2020

Pract Neurol

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Movement disorders are typically perceived as being gradually progressive conditions that are managed in outpatient settings. However, they may manifest de novo with an acute severe phenotype or an acute decompensation. A movement disorder becomes an emergency when it evolves acutely or subacutely over hours to days; delays in its diagnosis and treatment may cause significant morbidity and mortality. Here we address the clinical presentation, diagnosis and management of those movement disorder emergencies that are principally encountered in emergency departments, in acute receiving units or in intensive care units. We provide practical guidance for management in the acute setting where there are several treatable causes not to be missed. The suggested medication doses are predominantly based on expert opinion due to limited higher-level evidence. In spite of the rarity of movement disorder emergencies, neurologists need to be familiar with the phenomenology, potential causes and treatments of these conditions. Movement disorder emergencies divide broadly into two groups: hypokinetic and hyperkinetic, categorised according to their phenomenology. Most acute presentations are hyperkinetic and some are mixed.

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The clinical features, underlying immunology, and treatment of autoantibody‐mediated movement disorders

Cited by 47 publications

References 117 publications

The autoantibody-mediated encephalitides: from clinical observations to molecular pathogenesis

The autoantibody-mediated encephalitides: from clinical observations to molecular pathogenesis

Stiff Person Syndrome and Acetylcholine Receptor Ganglionic Neuronal Antibodies

Emergency presentations of movement disorders

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