Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Serum
Use
This test is used for evaluating patients suspected of having stiff-person syndrome (classical or focal forms such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus. Stiff-person spectrum disorders include classical stiff-person syndrome, focal stiff-person forms, and progressive encephalomyelitis with rigidity and myoclonus (PERM). Paraneoplastic and idiopathic autoimmune causes can be differentiated by a neuronal IgG antibody profile. Common manifestations include stiffness, spasms, heightened startle responses, and falls. The GAD65 antibody serves as a common biomarker for stiff-person spectrum and is linked to autoimmune diseases like type 1 diabetes and thyroid disease, usually without accompanying cancer.
Special Instructions
Not provided.
Limitations
Negative results do not exclude diagnosis of stiff-person spectrum disorder or PERM. Caution is advised for GAD65 antibody values below 20 nmol/L, as these may occur in a small percentage of the general population. GAD65 autoimmunity is associated with other autoimmune diseases like type 1 diabetes and hypothyroidism, which might cause neurological symptoms.
Methodology
Immunoassay (Multiplex Protein Panel)
Biomarkers
LOINC Codes
- 94701-0 - Movement autoimmune Ab pnl SerPl
- 72327-0 - Amphiphysin IgG Ser Ql IA
- 30347-9 - GAD65 Ab Ser-sCnc
- 94676-4 - DPPX IgG Ser Ql CBA IFA
- 96496-5 - GlyRa-1 IgG Ser 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
Serum
Volume
2 mL
Minimum Volume
1 mL
Container
Red top or Serum gel tube, plastic vial submission
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
Gross hemolysis, gross lipemia, gross icterus
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 28 days |
| Frozen | 28 days |
