Table 1 Summary of the clinical and paraclinical features of six patients with anti-flotillin-1/2
Patient 1 (P1) | Patient 2 (P2) | Patient 3 (P3) | Patient 4 (P4) | Patient 5 (P5) | Patient 6 (P6) | |
|---|---|---|---|---|---|---|
Age (years) at diagnostic testing, gender | 34, female | 35, female | 54, male | 40, female | 46, female | 54, female |
Disease duration at time of serum sampling (years) | 0 | 3 | 0 | 18 | 0 | 8 |
Diagnosis | RRMS | RRMS | RRMS | RRMS | RRMS | RRMS |
ON | Unilateral | No | Unilateral | Bilateral | P100 difference in the VEP | Unilateral |
Imaging | Several brain lesions, no spinal lesion | Contrast-enhancing spinal lesion, no brain lesion | One spinal lesion and further brain lesions | Multiple white matter lesions including the temporal lobe, cerebellum, and spinal cord | Several subcortical T2 lesions, one DWI-positive ponto-medullar lesion, and 3 further spinal lesions | Contrast-enhancing lesions at atlanto-occipital level |
McDonald’s criteria fulfilled | DIS, DIT, positive CSF | Relapses, positive CSF | Relapses, DIS, DIT, positive CSF | Relapses, DIS, DIT, positive CSF | DIS, DIT, positive CSF | Relapses, DIS, positive CSF |
Expanded Disability Status Scale | 2.0 | 2.0 | 2.0 | 3.5 | 2.0 | 2.0 |
Serum titer (tissue pattern on cerebellum/anti-flotillin-1/2) | 1:320/1:3200 | 1:100/1:1000 | 1:100/1:1000 | 1:1000/1:10,000 | 1:1000/1:10,000 | 1:100/1:1000 |
OCB in CSF only | Yes | Yes | Yes | Yes | Yes | Yes |
White cell count in CSF (cells/μl) | 9 | 5 | 7 | n.a. | 6 | 2 |
CSF titer (tissue pattern on cerebellum/anti-flotillin-1/2) | 1:32/1:100 | Neg./1:3.2 | 1:10/1:100 | n.a. | 1:100/1:1000 | n.a. |
Intrathecal anti-flotillin-1/2 synthesis | Yes | No | Yes | n.a.b | Yes | n.a.b |