Neuronal Antibody Profile (AMPHIPHYSIN, CV2.1, PNMA2 [Ma2/Ta], RI, YO, Hu, SOX1, GAD65, Tr, ZIC4)

Special Precautions/Comments:

Method: Immunoblot. Calibration: Manufacturer has used sera from known positive patients to confirm antigen reactivity. External QA: UK NEQAS scheme for Paraneoplastic antibodies. IQC: Commercial preparation, test band on each immunoblot.

Interferences: None known.

Interpretation: These assays are very sensitive and as a result can be extremely difficult to interpret. They should not be used as a screening test alone. Due to the nature of the separation and blot transfer the antigens are expressed as linear antigens not as native antigens so some antibodies may not react with them

Additional Information:

Indication: Paraneoplastic neurological syndrome.Used to screen for neuronal autoantibodies including (Amphiphysin, CV2, PNMA2 [Ma2/Ta], Ri, Yo, Hu, Tr, GAD, SOX1 and ZIC4).

Background Information: It can also be used for the investigation of amphiphysin, CV2.1, Ri, Ma2/Ta, SOX1, GAD65, Tr, ZIC4)Yo antibodies may be observed in patients with subacute or paraneoplastic cerebellar degeneration as a complication of gynaecological cancer or Hodgkin’s disease. • Hu antibodies are associated with paraneoplasic syndrome in patients with small cell lung carcinoma. • Ri antibodies may be found in the serum of patients with paraneoplastic syndromes associated with breast cancer. • Amphiphysin may be observed in paraneoplastic encephalomyelitis associated with small cell lung carcinoma or breast cancer. • CV2.1 may be seen in patients with paraneoplastic cerebellar degeneration, paraneoplastic encephalomyelitis or Lambert-Eaton myasthenic syndrome, associated with small cell lung carcinoma, thymoma or sarcoma. • Ma2/Ta may be associated with brain-stem/limbic encephalitis associated with testicular germ cell cancer or breast cancer. Antibodies against SOX1 are frequently associated with Lambert-Eaton myasthenic syndrome, but also occur in paraneoplastic cerebellar degeneration as well as in paraneoplastic and non-paraneoplastic neuropathy. The detection of these antibodies may provide an indication of small cell lung carcinoma. Autoantibodies against GAD65 and Tr (DNER) are diagnostic markers for the serological diagnosis of paraneoplastic neurological syndromes. Antibodies against Tr are associated with Hodgkin’s lymphoma. Important neurological diseases with autoantibodies against GAD65 are cerebellar degeneration and stiff-person syndrome. ZIC4 is a diagnostic maker for the serological diagnosis of paraneoplastic neurological syndromes

References: Toothaker TB, Rubin M. Paraneoplastic neurological syndromes: a review. Neurologist. 2009. 15(1):21-33. Vedeler CA, et al. Management of paraneoplastic neurological syndromes: report of an EFNS task force. European Journal of Neurology. 2006. 13:682-690 Benyahia B, et al. Paraneoplastic antineuronal antibodies in patients with systemic autoimmune diseases. Journal of Neuro-oncology. 2003. 62(3):349-351. Darnell RB, Posner JB. Paraneoplastic syndromes involving the nervous syndrome. New England Journal of Medicine. 2003. 349(16):1543-1554. Greenlee JE, et al. Antibody types and IgG subclasses in paraneoplastic neurological syndromes. Journal of the Neurological Sciences. 2001. 184(2):131-137. Bradwell AR. Paraneoplastic neurological syndromes associated with Yo, Hu and Ri antibodies. Clin Rev Allergy Imm. 2000. 19(1):19-29.

See Also:  CAB

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