Journal of Clinical Neuromuscular Disease · 2018 · 22 citations · 8 references
MedicineNeurologyNeuroscienceMolecular PathologyNeuroimmunologyNeuropathologyDemyelinating DiseasesDemyelinating DisordersNeuropathic PainPeripheral Nerve BiopsyPeripheral Nerve DisordersPeripheral Neuropathy EvaluationElectrodiagnostic CriteriaFgfr3 Mutation SpectrumFibroblast Growth Factor Receptor 3 (Fgfr3) DisordersFibroblast Growth Factor Receptor SignalingGenetic Testing In NeuropathyPeripheral Demyelinating Neuropathy
OBJECTIVES: To describe the variability of fibroblast growth factor receptor 3 (FGFR3) antibody titers in a small series of patients. METHODS: We performed a retrospective review of patients with neuropathy and positive FGFR3 antibodies. RESULTS: We report 7 patients (3 women) with an age range 44-81 years. Symptoms were acute onset in 3 and subacute onset in 4 patients. Five had neuropathic pain. Examination revealed normal large fiber function to mild/moderate predominantly sensory neuropathy and ataxia in one patient. Electrodiagnostic studies revealed normal large fiber function (3), demyelinating neuropathy (1), and mild/moderate axonal neuropathy (3). Four patients had high and 3 patients had low FGFR3 titers. Repeat testing revealed absence of antibodies in 2 patients and a significant reduction in one patient without any intervening immunotherapy. CONCLUSIONS: Our case series highlights the variability and inconsistency in FGFR3 antibody titers through enzyme-linked immunosorbent assay testing. These antibody titers should always be interpreted with caution in clinical context.
8
Dragan Maric, Alessandra Fiorio, Yoong Hee Chang et al. · Journal of Neuroscience · 2007 · 127 citations · Full text