TABLE 1.
Mayo Clinic GRAF1–IgG positive cases
| Peripheral Neuropathy | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient No./Sex/Age | Cerebellar (Cbl) Ataxia | Small Fiber | Large Fiber | Other Symptoms/Signs | Evidence of Cancer | MRI Brain | CSF | GRAF1–IgG Serum(s) or CSF IFA Titer | Immunotherapy | Follow‐Up (months) | Outcome |
| 1/M/76 | + | − | − | Peritracheal & hilar nodes FDG‐avid by PET‐CT | NA | Pleocytosis OCB positive | S:30720 | Pulse steroid, IVIG, cyclophosphamide | 5 | Wheelchair bound | |
| 2/M/55 | + | + | + | Severe gastroparesis | Squamous cell carcinoma in solitary node (histopathology) | Cerebral and cerebellar atrophy | Pleocytosis | S:7680 | Oral steroid IVIG, PLEX | 7 | Wheelchair bound, GJ tube feeding |
| 3/F/50 | − | + | − | Burning feet, orthostatic intolerance and episodic diaphoresis | NA | Pituitary microadenoma | ND | S:15360 | None | 60 | Ambulatory |
| 4/M/47 | − | − | + | − | Negative (PET‐CT) | ND | ND | S:61440 | PLEX | 7 | Ambulatory |
| 5/F/46 | + | − | − | Pseudobulbar affect cognitive dysfunction | Negative (PET‐CT) | Cerebellar and brainstem atrophy | ND | S:15360 | PLEX | 26 | Wheelchair bound |
| 6/M/62 | + | − | − | Pseudobulbar affect | Lingual tonsil and inguinal nodes FDG‐avid by PET‐CT | Cerebellar and cerebrum atrophy | NA | S:15360 | Pulse steroid, IVIG | 36 | Wheelchair bound |
| 7/F/50 | + | − | − | Mild parkinsonism longtract signs LEs | None | Cerebellar atrophy | None | S:30720 | None | 20 | Walking frame |
| 8/F/14 | + | − | − | − | Negative (PET‐CT) | Normal | Pleocytic lymphocytosis, elevated protein, OCB negative | S:30720 CSF:64 | Pulse steroid, IVIG, PLEX, cyclophosphamide | 63 | Wheelchair bound |
| 9/F/51 | + | − | − | − | Negative (PET‐CT) | Unavailable | Unavailable | S:1920 CSF:128 | Pulse Steroid, PLEX | 0 | Unavailable |
| 10/M/63 | + | − | − | − | Nasopharyngeal squamous cell carcinoma(histopathology) | Cerebellar and brainstem atrophy | Pleocytic lymphocytosis | CSF:256 | Pulse steroid, IVIG, PLEX | 24 | Wheelchair bound |
| 11/F/35 | + | − | + | − | Unavailable | Normal | Normal | CSF:1024 | Unavailable | Unavailable | Unavailable |
| 12/M/50 | + | − | − | Longtract signs LEs | Negative (PET‐CT) | Normal | No pleocytosis, OCB positive, Increased protein and IgG index | S:7680 CSF: 256 | Pulse steroid, oral steroid, IVIG | 3 | Wheelchair bound |
| 13/F/67 | + | − | − | − | Squamous cell lung cancer with retroperitoneal metastases. Remote history of mullerian fallopian tube cancer 10 years prior | Normal | Pleocytotic, elevated protein, OCB positive | CSF: 512 | PLEX, IVIG | NA | NA |
| 14/F/64 | + | − | − | − | CT no solid organ malignancy. Blastic bony lesions in spine. Past history of breast cancer. PET‐CT not completed | T2 hyperintensity and DWI restriction of bilateral colliculi, basal ganglia, putamen, thalamus | NA | Serum IFA positive, not titer | None | 1 | Rapid deterioration with coma and death within 1 mo |
GRAF1, GTPase Regulator Associated with Focal Adhesion Kinase 1; IgG, immunoglobulin‐G; Cbl, Cerebellar; MRI, magnetic resonance imaging; CSF, cerebrospinal fluid; IFA, immunofluorescence assay; M, male; F, female; FDG, fluorodeoxyglucose; PET‐CT, positron emission tomography–computed tomography; S, serum; NA, not available; OCB, oligoclonal band; IVIG, intravenous immunoglobulin; PLEX, plasma exchange; GJ, gastro‐jejunal; ND, not done; LEs, lower extremities; CT, computed tomography; DWI, diffusion weighted image.