Table 1

Clinical characteristics and investigation findings of the five cases

CaseAge at onsetTime to treatment (months)Duration of follow-up (months)Symptoms at onsetSymptoms at maximum disabilitySystemic features and autoantibodiesTime from onset to brain biopsy (months)CSF resultsBrain MRI features
165612Gait ataxiaGait ataxia, dysarthria, R upper limb ataxia, Holmes tremor, diffuse cognitive deficits, pseudobulbar affectL parotid uptake on gallium scan. Chronic lymphocytic sialadenitis on biopsy. ANA 1/40 speckled ENA +ve (SS-A)5Protein 0.25 g/l, cells-3 monos/mm3, OCB +veContrast enhancing lesions bilateral brachium pontis, pons, cerebellar white matter.
251436Gait ataxiaGait ataxia, dysarthria, R hemiparesis, R appendicular cerebellar ataxiaNil1Protein 0.52 g/l, cells-7 monos/mm3, OCB −veContrast enhancing lesions pons, bilateral brachium pontis, cerebellar white matter, cerebral white matter, basal ganglia.
320264Gait ataxia, dysarthriaGait and limb ataxia, spastic paraparesis, diplopia, nystagmus, cognitive deficitsHypercalcaemia with high 1,25-dihydroxy vitamin D (low serum ACE level)1Protein 1.04 g/l, cells-0, OCB −veContrast enhancing lesions pons, bilateral brachium pontis, cerebellar white matter, midbrain, medulla, cervical spinal cord.
454472R facial nerve palsyGait and limb ataxia, dysarthria, nystagmus, L abducens palsy, L tinnitus and reduced hearing, dysphagia, pseudobulbar affectR parotid uptake on gallium scan. Lymphocytic conjunctival infiltrate without granulomas. ANA 1/160 (homogenous)4Protein 0.55 g/l, cells-0, OCB −veContrast enhancing lesions pons, bilateral brachium pontis, cerebellar white matter, thalami. cerebral white matter.
5279100Headaches, fatigueAtaxia, dysarthria, diplopia, R hemiparesis, pseudobulbar affect, frontal release reflexesNil50Protein 0.65 g/l, cells-19 monos/mm3, OCB −veContrast enhancing lesions pons, bilateral brachium pontis, medulla, midbrain. Small T2 hyperintensities cerebral white matter.
  • ACE, angiotensin converting enzyme; ANA, antinuclear antibodies; ENA, extractable nuclear antigen; L, left; monos, monocytes; OCB, oligoclonal bands; R, right; SS-A, Sjögren's Syndrome-A.