The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

CASPR2 Syndrome (Autoimmune)

Multifaceted clinical manifestations of autoimmune disease against contactin-associated protein-2.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is CASPR2 Syndrome (Autoimmune)?

CASPR2 (Contactin-Associated Protein-2) is the target of antibodies against an axonal-paranodal protein that combines with the K+ channel complex (VGKC). Anti-CASPR2 antibodies cause clinical pictures with peripheral nerve hyperexcitability and central nervous system involvement.

Three principal phenotypes are distinguished: 1) Morvan syndrome (neuromyotonia + autonomic instability + insomnia + encephalopathy), 2) limbic encephalitis (memory loss, seizures, behavioral changes), 3) isolated peripheral nerve hyperexcitability (myokymia, fasciculations, cramps).

Diagnosis is supported by serum and CSF anti-CASPR2 antibody positivity, EMG/NCS (peripheral nerve hyperexcitability findings), and limbic FLAIR signal changes on MRI. Tumor screening (thymoma) is important. Immunotherapy includes IVIG, plasmapheresis, rituximab and cyclophosphamide.

Symptoms

Neuromyotonia (continuous muscle activity)
Myokymia and fasciculations
Cramps and stiffness
Severe insomnia (Morvan)
Memory loss and confusion
Hyperhidrosis and tachycardia

Risk Factors

Thymoma (40-60%)
Other autoimmune diseases
Male sex (slight predominance)
Middle and advanced age
Paraneoplastic syndrome history
Genetic predisposition (HLA)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Continuous muscle activity and stiffness
  • Severe insomnia
  • Memory loss and behavioral changes
  • Hyperhidrosis and autonomic instability
  • Coexisting thymoma history
  • Family history of autoimmune disease

Treatment Methods

01
Anti-CASPR2 antibody screen (serum + CSF)
02
First-line: IVIG, methylprednisolone, plasmapheresis
03
Second-line: rituximab, cyclophosphamide
04
Symptomatic: carbamazepine, gabapentin
05
Tumor screening (thymoma) and surgery
06
Long-term immunosuppressive therapy

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Nöroloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Headache and Migraine

Nöroloji

What you need to know about headache types, migraine attacks, and triggering factors.

Low Back Pain

Nöroloji

Learn about the most common causes of low back pain, risk factors, and appropriate treatment approaches.

Neck Pain and Cervical Disc Herniation

Nöroloji

Learn about the symptoms and treatment options for cervical disc herniation and problems in the neck region.

Epilepsy

Nöroloji

Accurate information about epilepsy, types of seizures, and recommendations for patients and families.

Parkinson Disease

Nöroloji

Parkinson disease is caused by progressive degeneration of dopaminergic neurons and alpha-synuclein accumulation; well-timed therapy substantially improves function and quality of life.

Alzheimer's Disease and Dementia

Nöroloji

Information about early signs, diagnosis, and the care process for Alzheimer's and other types of dementia.

Multiple Sclerosis (MS)

Nöroloji

What is multiple sclerosis, who is at risk, and which treatments are applied?

Stroke

Nöroloji

What is stroke, what are the FAST signs, and why is emergency intervention critical?

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.