Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Spinal Fluid
Use
This test is useful for evaluating patients suspected of having stiff-person syndrome or progressive encephalomyelitis with rigidity and myoclonus, using spinal fluid specimens. Stiff-person spectrum disorders are characterized by central nervous system hyperexcitability leading to stiffness, spasms, heightened startle responses, and falls. Specific antibodies detected in these disorders include GAD65 and sometimes amphiphysin-IgG, which can indicate paraneoplastic conditions such as breast adenocarcinoma. Other associated antibodies include glycine receptor and dipeptidyl-peptidase-like protein-6 antibodies. The results, along with clinical and electrophysiologic characteristics, support diagnosis and management of these conditions.
Special Instructions
Not provided.
Limitations
Negative test results do not exclude the diagnosis of stiff-person spectrum disorder or PERM. GAD65 antibody positive values below 20 nmol/L should be interpreted with caution, as low levels can occur in the general population and are associated with other autoimmune diseases. The presence of certain antibodies correlates with specific clinical presentations and can inform therapeutic responsiveness, but the absence of these antibodies does not rule out disease presence.
Methodology
Immunoassay (Multiplex Protein Panel)
Biomarkers
LOINC Codes
- 94712-7 - Movement autoimmune Ab pnl CSF
- 90815-2 - Amphiphysin Ab CSF Ql IF
- 94711-9 - GAD65 Ab CSF IA-sCnc
- 94283-9 - DPPX IgG CSF Ql CBA IFA
- 96497-3 - GlyRa-1 IgG CSF Ql CBA IFA
- 69048-7 - Immunologist review
- 48767-8 - Annotation comment Imp
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Cerebrospinal Fluid
Volume
4 mL
Minimum Volume
2 mL
Container
Sterile vial, Preferred: Collection vial number 1, Acceptable: Any collection vial
Causes for Rejection
Gross hemolysis, gross lipemia, gross icterus
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 28 days |
| Frozen | 28 days |
