Table 1 Review of published cases of SEZ6L2 associated cerebellar syndrome
References | Cases (comorbidities if specified) | Symptoms | Diagnostic findings | Treatment | Outcome |
|---|---|---|---|---|---|
Yaguchi et al. [16] | 60yo F | Severe ataxia, retinopathy | CSF: normal MRI brain: normal (cerebellar atrophy after 2 y) No malignancy found | Immunotherapy (no further specification given) | Mild improvement (24 months follow up) |
Borsche et al. [17] | 55yo F with Crohn’s disease | Square wave jerks Limb Ataxia Impaired gait Postural instability | CSF: normal cell count and protein levels, OCB negative, beta-amyloid levels decreased, normal tau levels MRI brain: cerebellar atrophy PET-CT: normal | IVIG Rituximab | Deterioration in spite of IVIG, improvement after Rituximab (12 month follow up) |
Landa et al. [18] | 69yo M | Dysarthria, gait ataxia, headache, postural instability, apraxia, echolalia, axial rigidity, hypomimia, bradykinesia, hypophonia, diplopia, saccadic eye movements | CSF: Pleocytosis (90/µl), normal glucose and protein levels, OCB negative MRI brain: normal PET-CT: normal | IVMP IVIG Rituximab Cyclophosphamide | Further deterioration (10 months follow up) |
55yo F | Dysarthria, gait ataxia, limb ataxia, cognitive impairment, unilateral parkinsonism, downbeating and torsional nystagmus | CSF: normal MRI brain: normal Metastatic ovarian cancer (4 years after onset auf cerebellar syndrome) | IVMP IVIG | Further deterioration (death after 52 months from ovarian cancer) | |
54yo M | Dysarthria, gait ataxia, limb ataxia, mild cognitive impairment, bradykinesia, saccadic eye movements, end-gaze nystagmus | CSF: normal MRI brain: normal No malignancy found | IVMP Plasmapheresis | Further deterioration (36 months follow up) | |
69yo F | Dysarthria, gait ataxia, limb ataxia, downbeat nystagmus | CSF: normal MRI brain: normal No malignancy found | Prednisone Cyclophosphamide | Further deterioration (72 months follow up) | |
Mehdiyeva et al. [20] | 73yo F with depression | Nausea Bilateral gaze-evoked nystagmus, dysarthria, truncal ataxia, Postural instability, hypophonia, bradykinesia | MRI brain: cerebellar atrophy PET-CT: normal | IVMP IVIG Rituximab Cyclophosphamide | Marked improvement with cyclophosphamide (15 months follow up) |
Carneiro et al. [19] | 62yo F with mild hyponatremia, hypothyroidism | Gait ataxia, limb ataxia Disorientation, anterograde memory loss | CSF: high protein (87 mg/dL), high tau (2130 pg/mL, reference < 335 pg/mL) MRI: hippocampal atrophy, T2-hyperintensity of right hippocampus PET-CT: lung carcinoma suspected, confirmed by further evaluation | IVMP IVIG Cancer treatment | Death after 5 months |
Our case 2022 | 70yo F with recurrent biliary pancreatitis, depression | saccadic eye movements, disrupted vestibulo-ocular reflex, scanning speech and dysarthria, right sided limb hemiataxia, increased reflexes in the left arm and right leg with ankle clonus and pyramidal signs, profound gait ataxia | CSF: normal cell count and protein levels, OCB positive, phospho-tau increased (71 pg/ml, normal range < 61) MRI brain: cerebellar atrophy PET-CT: Mamma Ca suspected, confirmed by further evaluation | IVIG Rituximab (once) Cancer treatment | Improvement after mastectomy (8 months follow up) |