Autoimmune Movement Disorder Panel, Serum and CSF

Autoimmune movement disorders encompass a large, diverse group of neurologic disorders that can occur in isolation or in conjunction with other autoimmune encephalitides. Detection of antineural antibodies may help to establish a diagnosis, support treatment decisions, aid with prognostication, and guide the search for an associated malignancy.

Disease Overview

Autoimmune movement disorders may resemble genetic, metabolic, or neurodegenerative movement disorders. Importantly, autoimmune movement disorders may be treatable if identified in a timely manner; they may be the presenting symptom of an undiagnosed malignancy, and recognition of tumor-antibody associations may allow for cancer treatment at an early stage.  Signs and symptoms associated with these disorders are diverse and may include tremor, ataxia, chorea, neuromyotonia, myokymia, dystonia, myoclonus, abnormal eye movements, and/or parkinsonism.  Patients may also have symptoms such as headache, psychosis, hallucinations, and/or agitation. Subacute onset of symptoms, inflammatory cerebrospinal fluid (CSF) studies, and magnetic resonance imaging (MRI) findings consistent with inflammation or cerebellar degeneration may support this diagnosis. 

For more information about laboratory testing for autoimmune neurologic diseases, refer to the ARUP Consult Autoimmune Neurologic Diseases - Antineural Antibody Testing topic.

Test Description

These serum and CSF antineural antibody panel tests may be used for the evaluation of patients with subacute onset of movement disorders. Testing for the presence of antineural antibodies in both serum and CSF may improve diagnostic yield. 

These phenotype-targeted panels test for the presence of antibodies associated with movement disorders. Clinical phenotypes for specific antineural antibody-associated syndromes often overlap, and phenotype-specific panels allow for rapid identification of associated antibodies, which may have implications for treatment, prognosis, and cancer screening.  Other panels may be more appropriate, depending on the patient’s clinical phenotype:

Regardless of the panel chosen, order only one panel for serum and/or one panel for CSF; many antineural antibodies are redundant between these panels, and choosing based on the predominant phenotype will provide the most meaningful results. To compare these panels and the antibodies included, refer to ARUP Autoimmune Neurology Panel Components.

Testing for individual autoantibodies is also available separately.

Antibodies Tested and Methodology

Reflex Patterns

Autoimmune Movement Disorder Panel, Serum (3006206) and CSF (3006207): Reflex Patterns

Limitations

These panels do not include every antibody that has been associated with autoimmune movement disorders:

• ANNA-3 and PCCA-2 are not included because they are extremely rare (present in approximately 0.0001% of specimens submitted for evaluation using a paraneoplastic antibody panel), and commercial assays to confirm the specificity of these antibodies are not currently available. 
• Adaptor protein 3 subunit B2 (AP3B2), glial fibrillary acidic protein (GFAP), GTPase regulator associated with focal adhesion kinase 1 (GRAF1), neuronal intermediate filament (NIF) and its associated reflexes (NIF heavy and light chain, alpha internexin), neurochondrin, septin 5, and septin 7 antibodies are not included because they have been only recently identified and their prevalence is currently not well established.
  • GFAP has been reported in 0.17% of samples screened, often co-occurring with other antineural antibodies. 
  • GRAF1 has only been described in rare case reports; its prevalence remains unknown. 
  • NIF has been reported in 0.014% of samples screened; NIF heavy and light chain and alpha internexin were reflexed in samples that were positive for NIF to further identify the associated antibody. 
  • Neurochondrin has been reported in 0.002% of samples tested. 
  • Septin 5 has been reported in <0.001% of samples screened. 
  • Septin 7 has been reported in 0.002% of samples screened. 
• Kelch-like protein 11 (KLHL11) is not included due to intellectual property restrictions. 
• As testing for newly described antibodies becomes available and their clinical relevance is established, these panels will evolve to reflect these discoveries.

Test Interpretation

Results

Results must be interpreted in the clinical context of the individual patient; test results (positive or negative) should not supersede clinical judgment.