Diagnosis of a neuroautoimmune disease
The present invention relates to a method for diagnosing a disease comprising the step detecting in a sample comprising antibodies from a patient an autoantibody binding to a polypeptide selected from the group comprising NSF, STX1B, DNM1 and VAMP2, a polypeptide comprising a polypeptide selected from the group comprising NSF, STX1B, DNM1 and VAMP2, or a variant thereof, a use of said polypeptide for the diagnosis of a disease, an autoantibody binding to a polypeptide selected from the group comprising NSF, STX1B, DNM1 and VAMP2, a use of the autoantibody for the diagnosis of a disease, a method for isolating an autoantibody binding to a polypeptide selected from the group comprising NSF, STX1B, DNM1 and VAMP2, a pharmaceutical composition or medical device comprising said polypeptide according to the present invention, a kit for the diagnosis of a disease comprising said polypeptide or said medical device and a use of said polypeptide or autoantibody for the manufacture of a kit or medical device.
1. A method for determining the presence or absence of an autoantibody that binds to an N-ethylmaleimide sensitive fusion protein (NSF) in a sample of a patient, comprising:
(a) contacting the sample of the patient that comprises autoantibodies with the NSF, and
(b) determining the presence or absence of the autoantibody in the sample.
2. The method of claim 1 , wherein the patient has a disease that is associated with one or more symptoms selected from the group consisting of progressive stiffness in truncal muscles, progressive stiffness in proximal leg, rigid gait, lumbar hyperlordosis, chronic pain, spasms in proximal limb and axial muscles, sensitivity to touch and sound, hyperekplexia, myoclonus, depression, anxiety, phobia, fever, headache, confusion, dysarthria, dysphagia, nystagmus, oscillopsia, vertigo, nausea, ataxia, dizziness, seizures, epilepsy and tremor.
3. The method of claim 1 , wherein the sample is a bodily fluid comprising autoantibodies.
4. The method of claim 1 , wherein step (b) comprises performing a technique or assay selected from the group consisting of immunodiffusion techniques, immunoelectrophoretic techniques, light scattering immunoassays, agglutination techniques, labeled immunoassays, radiolabeled immunoassay, enzyme immunoassays, chemiluminscence immunoassays, and immunofluorescence.
5. The method of claim 2 , wherein the disease is associated with two or more of the symptoms.
6. The method of claim 2 , wherein the truncal muscles include thoracolumbar paraspinal muscles, abdominal muscles, or abdominal wall muscles.
7. The method of claim 3 , wherein the bodily fluid is selected from the group consisting of whole blood, serum, cerebrospinal fluid and saliva.
8. The method of claim 4 , wherein the enzyme immunoassay is enzyme-linked immunosorbent assay (ELISA).
9. The method of claim 4 , wherein the immunofluorescence is indirect immunofluorescence.
10. The method of claim 2 , wherein the disease is a neurological disease.
11. The method of claim 10 , wherein the disease is an autoimmune disease of the nervous system selected from the group consisting of stiff-person syndrome, paraneoplastic stiff-person syndrome, progressive encephalomyelitis with rigidity and myoclonus encephalitis, and encephalitis.