How is Morvan syndrome diagnosed?

A high index of clinical suspicion is needed to diagnose Morvan syndrome when a patient presents with a combination of above mentioned diverse clinical features. Most of the investigations that are usually performed in such patients, such as CSF analysis, brain MRI, EEG, PET scan, are typically unyielding.

What does CASPR2 mean?

Contactin-associated protein-like 2 (Caspr2) is a membrane protein expressed in the CNS and peripheral nervous system. It is essential for proper localization of voltage-gated potassium channels (VGKC).

What are CASPR2 antibodies?

If the brain is the mistaken region, the antibody attack produces an autoimmune encephalitis. When the antibodies target LGI1 (leucine-rich glioma inactivated 1) or CASPR2 (contactin-associated protein 2), they cause an encephalitis often termed ‘limbic encephalitis (LE)’.

How many patients have been identified with CASPR2 mutations?

Using Caspr2-expressing cells, antibodies were identified in 8 patients but not in 140 patients with several types of autoimmune or viral encephalitis, PNH, or mutations of the Caspr2-encoding gene. Patients’ antibodies reacted with brain and peripheral nerve in a pattern that co-localized with Caspr2.

When to use a CASPR2 antibody blood test?

CASPR2 Antibody Test – Anti-CASPR2 antibodies are found in patients with the acute or subacute onset of symptoms of limbic encephalitis, peripheral nerve hyperexcitability, and neuromyotonia. This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics.

Which is part of contactin associated protein 2 ( CASPR2 )?

Contactin associated protein 2 (CASPR2) is cellular adhesion molecule (CAMs) part of the neuroxins family. It is a transmembrane protein with its C-terminal portion interacting with an ankyrin protein called 4.1B and also a PDZ binding motif [ 1].

Where does CASPR2 form in the VGKC complex?

CASPR2 forms with Contactin-2 part of the VGKC complex, where it has the function of clustering Kv1 channels at the juxta-paranodal [ 1 – 3] [Figure 1]. Figure 1.

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