Test Catalog

Test Id : SPPCI

Stiff-Person Spectrum Disorders including Progressive Encephalomyelitis with Rigidity and Myoclonus, Interpretation, Spinal Fluid

Useful For
Suggests clinical disorders or settings where the test may be helpful

Interpretation for the evaluation of stiff-person spectrum disorders including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus using spinal fluid specimens

Method Name
A short description of the method used to perform the test

Only orderable as part of profile. For more information see SPPC / Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Spinal Fluid.

 

Medical Interpretation

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Stiff-Person/PERM Interp, CSF

Specimen Type
Describes the specimen type validated for testing

CSF

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
CSF Refrigerated (preferred) 28 days
Frozen 28 days
Ambient 72 hours

Useful For
Suggests clinical disorders or settings where the test may be helpful

Interpretation for the evaluation of stiff-person spectrum disorders including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus using spinal fluid specimens

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Stiff-person spectrum disorders include classical stiff-person syndrome, focal stiff-person forms (stiff-limb and stiff-trunk) and a severe encephalomyelitic form known as progressive encephalomyelitis with rigidity and myoclonus (PERM). Paraneoplastic and idiopathic autoimmune causes may be differentiated by a neuronal IgG antibody profile. The unifying clinical and electrophysiologic characteristic is central nervous system hyperexcitability. Clinical manifestations include stiffness, spasms, heightened startle responses, and falls. For the classical stiff-person form, the low back and lower extremities are principally affected. The stiff-limb phenotype may affect one or more limbs without truncal involvement. Truncal manifestations include low back spasms and deformity, and sudden chest wall spasms with breathing difficulties. Patients with PERM, in addition, have encephalopathy (often with seizures), myoclonus (muscle jerking), and dysautonomia. The most common IgG biomarker detected in stiff-person spectrum is glutamic acid decarboxylase 65 (GAD65) antibody. These patients generally have a classical or limited stiff-person form, almost always have antibody values above 20.0 nmol/L, have accompanying non-neurological autoimmune disease in 50% (type 1 diabetes and thyroid disease being most common), and almost always without accompanying cancer. Amphiphysin-IgG positivity is most commonly encountered in patients with occult breast adenocarcinoma presenting with limb stiffness and spasms; neurogenic changes are usually also detectable on clinical exam and electromyography. Glycine receptor (GlyR [ alpha1 1 subunit]) autoimmunity patients present more commonly with PERM or stiff-limb phenotype, rather than the classical stiff-person form. Associated neoplasms in GlyR antibody positive patients include thymoma, but a general search for age- and sex-pertinent cancers should also be undertaken. Dipeptidyl-peptidase-like Protein-6 (DPPX) antibody is associated with diverse central and autonomic presentations including PERM. B-cell blood dyscrasias should be tested for in DPPX-IgG positive cases. All stiff-person spectrum patients, both seropositive and seronegative may be immune therapy responsive. GlyR-IgG may be predictive of immune therapy response, including in patients with coexisting GAD65 antibody.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Only orderable as part of profile. For more information see SPPC / Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Spinal Fluid.

Interpretation
Provides information to assist in interpretation of the test results

Spinal fluid antibody positivity supports the clinical diagnosis of stiff-person spectrum disorder (classical stiff-person, stiff-limb, stiff-trunk or progressive encephalomyelitis with rigidity and myoclonus). A paraneoplastic basis should be considered.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Negative results do not exclude the diagnosis of stiff-person spectrum disorder or progressive encephalomyelitis with rigidity and myoclonus. Glutamic acid decarboxylase 65 (GAD65) antibody positive values below 20 nmol/L should be interpreted with caution. Lower values are encountered in 8% of the general population. However, GAD65 autoimmunity (any antibody value) is associated with other autoimmune diseases that can cause neurological symptoms, including type 1 diabetes, pernicious anemia, hypothyroidism, and adrenal insufficiency.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Hinson SR, Lopez-Chiriboga AS, Bower JH, et al: Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders. Neurol Neuroimmunol Neuroinflamm. 2018; 5:e438

2. Hutchinson M, Waters P, McHugh J, et al: Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody. Neurology. 2008;71:1291-1292

3. Martinez-Hernandez E, Arino H, McKeon A, et al: Clinical and immunologic investigations in patients with stiff-person spectrum disorder. JAMA Neurol. 2016;73:714-720

4. McKeon A, Martinez-Hernandez E, Lancaster E, et al: Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype. JAMA Neurol. 2013;70:44-50

5. McKeon A, Robinson MT, McEvoy KM, et al: Stiff-man syndrome and variants: clinical course, treatments, and outcomes. Arch Neurol. 2012 Feb;69(2):230-8

6. Pittock SJ, Lucchinetti CF, Parisi JE, et al: Amphiphysin autoimmunity: paraneoplastic accompaniments. Ann Neurol. 2005;58(1):96-107

7. Pittock SJ, Yoshikawa H, Ahlskog JE, et al: Glutamic acid decarboxylase autoimmunity with brainstem, extrapyramidal and spinal cord dysfunction. Mayo Clin Proc. 2006;81:1207-1214

8. Tobin WO, Lennon VA, Komorowski L, et al: DPPX potassium channel antibody: frequency, clinical accompaniments, and outcomes in 20 patients. Neurology. 2014;83:1797-1803

9. Walikonis JE, Lennon VA: Radioimmunoassay for glutamic acid decarboxylase (GAD65) autoantibodies as a diagnostic aid for stiff-man syndrome and a correlate of susceptibility to type 1 diabetes mellitus. Mayo Clin Proc. 1998 December;73(12):1161-1166

Method Description
Describes how the test is performed and provides a method-specific reference

A neuroimmunology expert reviews the laboratory data and an interpretive report is issued.

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Varies

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

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  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

Not Applicable

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
SPPCI Stiff-Person/PERM Interp, CSF 69048-7
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
614602 Stiff-Person/PERM Interp, CSF 69048-7

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Create a PDF

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports