Table 2

Clinical manifestations and paraclinical investigations in patients with anti-FGFR3 Abs and sensory neuropathy

NumberSex/ageAssociated contextBefore neuropathyNeuropathy onsetClinical presentationSNN criteriaNon-length dependentCSF Protein/cellElectrophysiologyOther findings
1M/42Psoriasic rheumatism, SSA and SSB antibodiesYesProgressiveAtaxia and lower limb areflexiaNANANDND
2F/33Systemic lupus erythematosusYesSubacuteBurning and constricting pain in chest and limbsNoYesNDND
3F/67Systemic lupus erythematosusYesProgressivePain in hands and legs. Lower limb areflexia and vibration sensory loss in lower limbsNoNoNDND
4F/69Systemic lupus erythematosusYesProgressiveAtaxia, paraesthesia, pain and vibration loss in all four limbs. Lower limb areflexiaNAYesNDND
5F/54Rheumatic polyarthritis, primary biliary cirrhosis, Sjögren's syndromeYesSubacuteRight facial pain with allodynia and left facial paraesthesiaNoYesNDND
6F/37NoneProgressiveBurning pain in feet. Reduced pain sensation in lower limbsNoNoNDENMG normal. Abolished potentials in both feet and both hands on LEPReduced fibre density on skin biopsy
7F/73NoneProgressiveBurning pain in feet and hands. Reduced pain sensation in lower limbs. Lower limb ataxiaNoYesNDReduced SAP in both feet and both hands. Normal MCV
8M/44Melanoma in remission 8 years earlierYesProgressiveParaesthesia and pain and vibration sensory loss in the four limbs. Left face numbness. Asymmetrical distribution. Diffuse areflexiaYesYesNDAbolished SAP in both feet and both hands Normal MCVNerve biopsy: moderate MF loss. No regenerating fibres
9F/44HIV infectionYesAcutePain, dysesthesia, ataxia and pain and vibration sensory loss in all four limbs. AreflexiaYesYes1.1 g/L polyclonal 27 WCC/mm3Reduced or abolished SAP in both feet and both hands. Normal MCV
10F/59Thyroid cancer in remission 5 years earlierYesSubacuteParaesthesia and pain and vibration sensory loss in all four limbs and face. Asymmetrical distribution. Diffuse areflexiaYesYesNormalReduced or abolished SAP in both feet and both hands. Normal MCVNerve biopsy: severe MF loss. No regenerating fibres
11M/38NoneSubacuteLoss of pain and thermal sensation over the whole body. Lower limb areflexia. Depressed vibration sensationYesYesNormalReduced or abolished SAP in both feet and both hands. Normal MCVReduced fibre density on skin and nerve biopsy. No regenerating fibres
12M/18Sjögren's syndromeNoProgressiveSevere sensory loss predominately in large fibres with ataxia in all four limbs. Areflexia. Abnormal pupils and sudomotor disturbancesYesYes0.26 g/L oligoclonal 1 WCC/mm3Abolished SAP in both feet and both hands. Normal MCVNerve biopsy: MF loss. No regenerating fibres
13M/58Sjögren's syndromeYesProgressiveSevere ataxia. Sensory loss in all four limbs and left face. AreflexiaYesYes0.80 g/L polyclonal 3 WCC/mm3Reduced or abolished SAP in both feet and both hands. Normal MCV
14F/51ANA and anticitrullin antibodiesNoProgressivePain in all four limbs. Dysesthesia and pain and vibration sensory loss in the left leg. AreflexiaYesYes0.52 g/L polyclonal 1 WCC/mm3Reduced SAP in both feet and both hands. Normal MCVNerve biopsy: MF loss. No regenerating fibres
15M/50Ulcerative rectohaemorrhagic colitis, ankylosing spondylitisNoAcuteSevere paraesthesia and ataxia in all four limbs with pain and vibration sensory loss. AreflexiaYesYes0.73 g/L polyclonal 1 WCC/mm3Abolished SAP in both feet and both hands. Normal MCVNerve fibre loss on skin biopsy
16F/34NoneProgressiveElectric pain and paraesthesia in the upper limbs and left leg. Pain and vibration sensory loss. AreflexiaYesYesNormalReduced SAP in both feet and both hands. Normal MCVNerve biopsy: fibre loss. Axonal degeneration. T-cells infiltration
  • ‘Before neuropathy’ indicates whether or not the autoimmune disease preceded the onset of neuropathy.

  • CSF, cerebrospinal fluid; ENMG, electroneuromyography; F, female; FGFR3, fibroblast growth factor receptor 3; LEP, laser evoked potentials; M, male; MCV, motor conduction velocities; MF, myelinated fibre; NA, not available; ND, not done; SAP, sensory action potentials; SNN, sensory neuronopathy; WCC, white cell count.