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. 2021 Aug 26;3(3):fcab185. doi: 10.1093/braincomms/fcab185

Table 1.

Characteristics of patients with KLHL11-Ab paraneoplastic neurological syndrome

Patient No. (Cohort) Sex/age (years) Presentation Main clinical features Cancer Brain MRI CSF [White cells per mm3/Protein (g/L)/oligoclonal bands] Distinctive features Immunotherapy Modified Rankin Scale score before and after PNS treatment (length of follow-up)
1 (Retrospective PCD) M, 47 Sudden onset of gait ataxia, with nausea and vomiting, weight loss (5 kg in 3 months) Dysexecutive syndrome with behavioural disturbances, dysarthria, nystagmus, gait and limb ataxia ‘Burned-out’ testicular germ cell tumour

  • Initial: fluid-attenuated inversion recovery hypersignal involving the cerebellar peduncles bilateral, Gadolinium+

  • Evolution: cerebellar atrophy

 ↑ (21)/↑ (0.87)/+ Brain biopsy performed: microglial activation, perivascular epithelioid inflammatory infiltrate, rarefaction of Purkinje cells Corticosteroids, IVIG, cyclophosphamide, rituximab 5→4 (31 months)
2 (Retrospective PCD) M, 46 Subacute onset of gait ataxia and dysarthria Hypersomnia, ophthalmoplegia, bilateral deafness, anarthria, paraparesis and urinary disjunction, gait and limb ataxia Non-seminomatous testicular germ cell tumours

  • Initial: brainstem lesion, Gadolinium+

  • Evolution: hypersignal involving mesial temporal lobes and thalami, cerebellar atrophy, myelitis

 ↑ (12)/↑ (0.74)/+ Limbic encephalitis and myelitis developed after cerebellar syndrome Corticosteroids, cyclophosphamide and rituximab 3→5 (126 months)
3 (Retrospective PCD) M, 42 Episodic ataxia, with vertigo, nausea and vomiting (transient episodes for 5 years) Gait and limb ataxia, dysarthria, weight loss ‘Burned-out’ testicular tumour Cerebellar atrophy ↑ (8)/n (0.46)/+ Comprehensively studied for genetic causes of episodic ataxia Corticosteroids, IVIG, rituximab 3→3 (101 months)
4 (Retrospective PCD) M, 43 Paroxysmal episodes of vertigo and gait imbalance

  • Dysexecutive syndrome;

  • skew deviation with ocular tilt reaction, nystagmus, dysarthria, hearing loss, gait and limb ataxia

 Partial ‘burned-out’ testicular seminoma

  • Initial: normal

  • Evolution: cerebellar atrophy

 ↑ (6)/↑ (0.58)/+ Initial diagnosis of benign paroxysmal positional vertigo, later comprehensively studied for genetic ataxias Corticosteroids, plasmapheresis, IVIG, cyclophosphamide 4→6 (42 months)
5 (Retrospective Ma2-Ab) M, 35 Sudden onset of oscillopsia, vertigo, headache, tinnitus, weight loss (10 kg in 1 month) Dysexecutive syndrome, memory deficits, seizures, opsoclonus-myoclonus Mixed testicular cancer (90% seminoma, 10% embryonic carcinoma)

  • Initial: fluid-attenuated inversion recovery mesencephalic hypersignal

  • Evolution: hypersignal involving left mesial temporal lobe (Gadolinium+) and pons

 ↑ (83)/n (0.29)/NA Co-existence of Ma2-Abs Corticosteroids 4→3 (37 months)
6 (Retrospective LE) M, 44 Memory deficits, psychomotor slowing, diplopia Memory deficits, dysarthria, lower-limb spasticity, gait ataxia ‘Burned-out’ testicular seminoma

  • Initial: fluid-attenuated inversion recovery hypersignal involving the left hippocampus, R hippocampal atrophy

  • Evolution: cerebellar atrophy

 n (0)/↑ (0.58)/+ Previous history of cryptorchidism IVIG, cyclophosphamide, rituximab 3→4 (62 months)
7 (Retrospective PCD) M, 64 Gait ataxia, dysarthria, vomiting, weight loss (15 kg in 1 year) Tetrapyramidal syndrome, transient episodes of diplopia, dysphagia, hyperacusis, tinnitus, gait ataxia Not found (testicular ultrasound not performed)

Initial: normal

Evolution: cerebellar atrophy

 ↑ (4)/↑ (0.46)/+ Elevated CSF neopterin and total Tau Corticosteroids, IVIG, rituximab, cyclophosphamide 4→6 (33 months)
8 (Retrospective PCD) M, 41 Gait and limb ataxia Cognitive difficulties, hearing loss, dysarthria, vertical gaze palsy, nystagmus, spasticity ‘Burned-out’ germ-cell tumour

  • Initial: hypersignal involving cerebellar vermis, R hippocampus (Gadolinium+) and L para-hippocampal region

  • Evolution: hippocampal and cerebellar atrophy

 n (0)/↑ (0.8)/– Significant hypometabolism on brain PET involving cerebellar vermis and L cerebellar hemisphere IVIG 4→4 (44 months)
9 (Retrospective LE) M, 79 Apathy, weight loss (9 kg in 2 months) Hypersomnia, memory disturbances, micrographia, vertical gaze palsy, tremor, gait instability, tendency to fall backwards Not found (testicular ultrasound normal) Hypersignal involving mesial temporal lobes and R hippocampal atrophy ↑ (9)/↑ (0.7)/+ PSP-like phenotype, elevated CSF neopterin and total Tau Corticosteroids, IVIG 4→6 (21 months)
10 (Retrospective PCD) M, 42 Paroxysmal episodes of vertigo, nausea and tinnitus, weight loss (8 kg in 1 month) Bilateral severe weakness of upper limbs, associated with amyotrophy, fasciculations, bilateral Hoffmann signs, gait ataxia ‘Burned-out’ germ-cell tumour

  • Initial: tract-specific myelitis (anterior cord) C3-D1

  • Evolution: cerebellar and cervical spinal cord atrophy

 ↑ (7)/↑ (0.6)/+ Flail arm syndrome Corticosteroids, IVIG, cyclophosphamide 3→5 (51 months)
11 (Prospective PCD) M, 55 Sudden onset of gait ataxia, vertigo, tinnitus and weight loss (2 kg in 4 months) Gait and limb ataxia, dysarthria, nystagmus ‘Burned-out’ germ-cell tumour Initial: normal ↑ (20)/↑ (0.88)/NA Sudden onset IVIG, corticosteroids 3→4 (2 months)