2020
Clinical characteristics of fibroblast growth factor receptor 3 antibody‐related polyneuropathy: a retrospective study
Kovvuru S, Cardenas Y, Huttner A, Nowak R, Roy B. Clinical characteristics of fibroblast growth factor receptor 3 antibody‐related polyneuropathy: a retrospective study. European Journal Of Neurology 2020, 27: 1310-1318. PMID: 32068339, DOI: 10.1111/ene.14180.Peer-Reviewed Original ResearchConceptsChronic inflammatory neuropathiesInflammatory neuropathiesSensory neuropathyFGFR3 antibodiesDistal lower extremity weaknessIntravenous immunoglobulin responseLower extremity paresthesiasCommon presenting symptomLower extremity weaknessRetrospective chart reviewPure sensory neuropathyHistory of cancerDistal sensationMotor findingsPresenting symptomChart reviewClinical characteristicsDemyelinating featuresNerve biopsySymptom onsetUnsteady gaitClinical presentationFoot dropRetrospective studyAutoimmune diseases
2019
HGG-01. ACQUISITION OF A HYPERMUTATOR PHENOTYPE UNDERLYING DISTANT SPINAL INTRAMEDULLARY SPREAD IN HISTONE-MUTATED DIFFUSE MIDLINE GLIOMA
Hong C, Kundishora A, Fomchenko E, Huttner A, Erson-Omay Z, Marks A, Diluna M, Kahle K. HGG-01. ACQUISITION OF A HYPERMUTATOR PHENOTYPE UNDERLYING DISTANT SPINAL INTRAMEDULLARY SPREAD IN HISTONE-MUTATED DIFFUSE MIDLINE GLIOMA. Neuro-Oncology 2019, 21: ii86-ii86. PMCID: PMC6477387, DOI: 10.1093/neuonc/noz036.095.Peer-Reviewed Original ResearchIntramedullary spinal metastasesDiffuse midline gliomaMidline gliomaWhole-exome sequencingSpinal metastasesKey oncogenic driver mutationsSomatic mutationsExome sequencingLower extremity weaknessDistant metastatic spreadHigh-grade astrocytic tumorsGenetic alterationsOncogenic driver mutationsSpinal metastatic lesionsProton beam radiationThirteen-year-old maleSpinal intramedullaryExtremity weaknessDistant spreadMetastatic lesionsLumbar tumorsPineal lesionsPoor prognosisTumor spreadPineal tumors
2018
PDTM-35. GENETIC ALTERATIONS DRIVING SPINAL INTRAMEDULLARY METASTASES OF A HISTONE-MUTATED DIFFUSE MIDLINE PINEAL GLIOMA
Hong C, Kundishora A, Omay E, Huttner A, Marks A, Diluna M, Kahle K. PDTM-35. GENETIC ALTERATIONS DRIVING SPINAL INTRAMEDULLARY METASTASES OF A HISTONE-MUTATED DIFFUSE MIDLINE PINEAL GLIOMA. Neuro-Oncology 2018, 20: vi211-vi211. PMCID: PMC6217703, DOI: 10.1093/neuonc/noy148.875.Peer-Reviewed Original ResearchDiffuse midline gliomaMidline gliomaH3K27M mutationGenetic alterationsM mutationIntramedullary spinal metastasesSpinal intramedullary metastasisDistant metastatic spreadLower extremity weaknessMismatch repair gene mutationsKey driver mutationsRepair gene mutationsProton beam radiationWhole-exome sequencing