Immunotherapy-responsive chorea as the presenting feature of LGI1-antibody encephalitis

Tofaris, George K.; Irani, Sarosh R.; Cheeran, Binith; Baker, Ian; Cader, M Z; Vincent, Angela

doi:10.1212/wnl.0b013e31825f0522

Cited by 52 publications

(39 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In contrast to our patient, these patients progressed to limbic encephalitis within weeks. 24 Universal corticosteroid responsiveness was a major criterion supporting an autoimmune basis for the idiopathic chorea cases in this study. SLE and antiphospholipid syndrome were common accompaniments.…”

supporting

confidence: 57%

Autoimmune chorea in adults

et al. 2013

View full text Add to dashboard Cite

Objectives: To determine the characteristics of adult-onset autoimmune chorea, and compare paraneoplastic and idiopathic subgroups.Methods: Thirty-six adults with autoimmune chorea were identified at Mayo Clinic (Rochester, MN) from 1997 to 2012. Medical record and laboratory data were recorded. Nonparaneoplastic (n 5 22) and paraneoplastic cases (n 5 14) were compared.Results: Women accounted for 21 patients (58%). Median age at symptom onset was 67 years (range 18-87 years). We estimated the incidence for Olmsted County was 1.5 per million personyears. Symptom onset was subacute in all. Chorea was focal (20 patients) or generalized (16 patients). Although chorea predominated, other neurologic disorders frequently coexisted (29 patients); abnormal eye movements were uncommon (4 patients). No patient had NMDA receptor antibody or any immunoglobulin (Ig)G yielding a detectable immunofluorescence binding pattern restricted to basal ganglia. Two had synaptic IgG antibodies novel to the context of chorea (GAD65, 1; CASPR2, 1). In the paraneoplastic group, 14 patients had evidence of cancer. Of 13 with a histopathologically confirmed neoplasm, small-cell carcinoma and adenocarcinoma were most common; 6 patients had a cancer-predictive paraneoplastic autoantibody, with CRMP-5-IgG and ANNA-1 being most common. In the idiopathic group, 19 of the 22 patients had a coexisting autoimmune disorder (most frequently systemic lupus erythematosus and antiphospholipid syndrome); autoantibodies were detected in 21 patients, most frequently lupus and phospholipid specificities (19 patients). The paraneoplastic group was older (p 5 0.001), more frequently male (p 5 0.006), had more frequent weight loss (p 5 0.02), and frequently had peripheral neuropathy (p 5 0.008).Conclusions: Autoimmune chorea is a rare disorder with rapid onset. Male sex, older age, severe chorea, coexisting peripheral neuropathy, and weight loss increase the likelihood of cancer. Huntington disease is usually the foremost consideration for a neurologist evaluating adult-onset chorea. An autoimmune etiology is sometimes overlooked: paraneoplastic, parainfectious, or idiopathic. Prototypic disorders include CRMP-5 (collapsin response-mediator protein 5)-immunoglobulin (Ig) G-associated paraneoplastic chorea 1 (usually related to small-cell carcinoma) and idiopathic phospholipid antibody-associated chorea.2 Sydenham chorea, a parainfectious immune-mediated disorder, lacks a proven autoantigen and is rare in later adulthood.3 There is a paucity of published data addressing clinical or serologic characteristics that aid the distinction of adult-onset autoimmune choreas, guide treatment, or inform outcomes. This report describes our 16-year experience with adult-onset autoimmune chorea, and compares paraneoplastic and idiopathic autoimmune forms.METHODS Patients. The study used Mayo Clinic's computerized central diagnostic index, and was approved by the Mayo Clinic Institutional Review Board (IRB 08-6647). We reviewed 2,634 medical records of patients seen f...

show abstract

supporting

confidence: 57%

Autoimmune chorea in adults

et al. 2013

View full text Add to dashboard Cite

show abstract

“…The relative proportions of patients with LGI1 and CASPR2 antibodies and those who remain without a known cell-surface antigenic target (Neuroglial cell-surface antibody [NGSAb] unknown) are depicted in the gradient bars. Movement disorders include ataxia, chorea, and parkinsonism 44,93,94. A number of patients, especially those with cramp fasciculation syndrome–neuromyotonia (CFS-NMT; high frequency discharges shown) and epilepsy (excluding faciobrachial dystonic seizures [FBDS]) currently have no defined antigenic target (NGSAb unknown), although their sera precipitate VGKC complexes in the radioimmunoassay.…”

mentioning

confidence: 99%

Cell‐surface central nervous system autoantibodies: Clinical relevance and emerging paradigms

Irani

Gelfand

Al-Diwani

et al. 2014

Annals of Neurology

164

149

View full text Add to dashboard Cite

The recent discovery of several potentially pathogenic autoantibodies has helped identify patients with clinically distinctive central nervous system diseases that appear to benefit from immunotherapy. The associated autoantibodies are directed against the extracellular domains of cell-surface–expressed neuronal or glial proteins such as LGI1, N-methyl-D-aspartate receptor, and aquaporin-4. The original descriptions of the associated clinical syndromes were phenotypically well circumscribed. However, as availability of antibody testing has increased, the range of associated patient phenotypes and demographics has expanded. This in turn has led to the recognition of more immunotherapy-responsive syndromes in patients presenting with cognitive and behavioral problems, seizures, movement disorders, psychiatric features, and demyelinating disease. Although antibody detection remains diagnostically important, clinical recognition of these distinctive syndromes should ensure early and appropriate immunotherapy administration. We review the emerging paradigm of cell-surface–directed antibody–mediated neurological diseases, describe how the associated disease spectrums have broadened since the original descriptions, discuss some of the methodological issues regarding techniques for antibody detection and emphasize considerations surrounding immunotherapy administration. As these disorders continue to reach mainstream neurology and even psychiatry, more cell-surface–directed antibodies will be discovered, and their possible relevance to other more common disease presentations should become more clearly defined.

show abstract

“…The true incidence of VGKC encephalitis is unknown, although it is increasingly recognized. While this condition is conventionally attributed to an autoimmune reaction against the VGKC, it is now known that antibodies used in laboratories to test for VGKC in fact act on leucine-rich glioma-inactivated protein 1 (LGI1), a neuronal secreted protein, which is a structural component of the VGKC complex 12). Some authors, therefore, refer to anti-LGI1 antibody or anti-VGKC-complex antibodies instead of anti-VGKC antibody, and may replace the term ‘VGKC encephalitis’ with ‘LGI1 encephalitis’ 3)…”

Section: Discussionmentioning

confidence: 99%

Confusion, Faciobrachial Dystonic Seizures, and Critical Hyponatremia in a Patient with Voltage-Gated Potassium Channel Encephalitis

Yaxley

2017

Korean J Fam Med

View full text Add to dashboard Cite

Autoimmune limbic encephalitis is a rare cause of encephalitic disease. It is associated with various target antigens and is difficult to diagnose, and experience with its treatment is limited. This case report describes a 69-year-old man, who presented with life-threatening hyponatremia and confusion, following several months of gradually worsening faciobrachial dystonic seizures. Faciobrachial dystonic seizures are a well-described feature classically observed in voltage-gated potassium channel autoimmune encephalitis. The presence of chronic hyponatremia without cognitive dysfunction, eventually culminating in an acute episode of encephalopathy and severe hyponatremia, is a pattern of natural history not previously documented in this condition.

show abstract

Immunotherapy-responsive chorea as the presenting feature of LGI1-antibody encephalitis

Abstract: We describe 2 patients who presented with subacute chorea as the initial feature of autoimmune encephalitis associated with antibodies against leucine-rich glioma inactivated 1 (LGI1), a component of the voltage-gated potassium channel (VGKC) complex.

Cited by 52 publications

References 5 publications

Autoimmune chorea in adults

Autoimmune chorea in adults

Cell‐surface central nervous system autoantibodies: Clinical relevance and emerging paradigms

Confusion, Faciobrachial Dystonic Seizures, and Critical Hyponatremia in a Patient with Voltage-Gated Potassium Channel Encephalitis

Contact Info

Product

Resources

About