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Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
Lorena Martín-Aguilar1, Cinta Lleixà1, Elba Pascual-Goñi1
1From the Neuromuscular Diseases Unit (L.M.-A., C.L., E.P.-G., M.C.-Á., R.R.-G., E.C.-V., J.T.-S., E.N.-O., I.I., L.Q.), Department of Neurology, Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (L.M.-A., C.L., E.P.-G., M.C.-Á., J.D.-M., E.C.-V., X.S.-C., E.G.); Immunology Department (L.M.-M.), Hospital de La Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Spain; Centro para La Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M., R.R.-G., E.C.-V., N.L., X.S.-C., E.G., I.I., L.Q.); University Hospital Birmingham (Y.R., S.S.), UK; Erasmus Medical Center (B.C.J., A.B.), Rotterdam, the Netherlands; IRCCS Mondino Foundation (Andrea Cortese, E.V.), Pavia, Italy; Department of Neurology (R.H., F.Z.), Medical University of Vienna; Paracelsus Medical University (C.R.), Salzburg, Austria; IRCCS Humanitas Research Hospital (G.L.), Milan University, Rozzano, Italy; Kuala Lumpur General Hospital (F.L.H.), Jalan Pahang, Kuala Lumpur, Malaysia; Hospital Universitari Germans Trias I Pujol (A.M.-P.), Badalona; Hospital Universitario Virgen de Las Nieves (Alejandra Carvajal), Granada, Spain; Hospital Universitario Clínico San Cecilio (R.P.-M.), Granada; Hospital Son Llàtzer (M.U.-M.), Palma de Mallorca; Hospital San Jorge (O.A.), Huesca, España; Hospital San Pedro (M.Á.L.-P.), Logroño; Hospital Universitari Josep Trueta (F.M.), Girona; Hospital Clínico Universitario de Santiago (J.P.-F.), Santiago de Compostela; Hospital Universitario Virgen Del Rocío (L.M.-D., M.C.-S.), Sevilla; Hospital Universitari Sant Joan (N.O.), Reus; Complejo Asistencial de Ávila (M.B.), Ávila, Spain; Akdeniz University (Ö.D.), Antalya, Turkey; Toronto General Hospital (V.B.), University Health Network, University of Toronto, Canada; Instituto Nacional de Ciencias Neurológicas. Lima (D.S.-C.), Perú; St. Josef-Hospital (K.P.), Ruhr-University Bochum; and Sant Joseph Hospital (C.S.), Berlin, Germany.
Background And Objectives:
To study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN).
Methods:
Patients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, and functional scales (modified Rankin Scale [mRS] and Inflammatory Rasch-built Overall Disability Scale [I-RODS]) were retrospectively collected at baseline and at the follow-up. Autoantibody and neurofilament light (NfL) chain levels were analyzed at baseline and at the follow-up.
Results:
Forty NF155+ patients with AN were included. Mean age at onset was 42.4 years. Patients presented with a progressive (75%), sensory motor (87.5%), and symmetric distal-predominant weakness in upper (97.2%) and lower extremities (94.5%), with tremor and ataxia (75%). Patients received a median of 3 (2-4) different treatments in 46 months of median follow-up. Response to IV immunoglobulin (86.8%) or steroids (72.2%) was poor in most patients, whereas 77.3% responded to rituximab. HLA-DRB1*15 was detected in 91.3% of patients. IgG4 anti-NF155 antibodies were predominant in all patients; anti-NF155 titers correlated with mRS within the same patient (r = 0.41, p = 0.004). Serum NfL (sNfL) levels were higher in anti-NF155+ AN than in healthy controls (36.47 vs 7.56 pg/mL, p < 0.001) and correlated with anti-NF155 titers (r = 0.43, p = 0.001), with I-RODS at baseline (r = -0.88, p < 0.001) and with maximum I-RODS achieved (r = -0.58, p = 0.01). Anti-NF155 titers and sNfL levels decreased in all rituximab-treated patients.
Discussion:
Anti-NF155 AN presents a distinct clinical profile and good response to rituximab. Autoantibody titers and sNfL are useful to monitor disease status in these patients. The use of untagged-NF155 plasmids minimizes the detection of false anti-NF155+ cases.
Classification Of Evidence:
This study provides Class IV evidence that anti-NF155 antibodies associate with a specific phenotype and response to rituximab.
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