title: Electrophysiological characterization of adult-onset Niemann-Pick type C disease.
abstract: In infantile and juvenile Niemann-Pick type C (NPC) disease electrophysiological studies have shown central (CNS) and peripheral (PNS) nervous system abnormalities. However, an extensive electrophysiological evaluation of CNS and PNS in adult form of NPC is still lacking. The aim of the study is to assess in adult-onset NPC disease the involvement of CNS and PNS by a multimodal electrophysiological approach. Three patients affected by adult form of NPC disease underwent electrophysiological evaluation including nerve conduction study (NCS), magnetic motor (MEPs), visual (VEPs), somatosensory (SSEPs) and brainstem auditory (BAEPs) evoked potentials. NCS, MEPs, VEPs and upper limb SSEPs were normal. Lower limb SSEPs were abnormal in all patients and abnormalities were consistent with a length-dependent process affecting the central somatosensory pathway. BAEPs were abnormal in all patients with both peripheral and central impairment of auditory pathway. Our electrophysiological findings suggest that auditory and lower limb somatosensory pathways are constantly affected in adult-onset form of NPC disease. The involvement of PNS, pyramidal, visual and upper limb somatosensory pathways might occur later during the course of disease.
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy. Electronic address: rosaiodice81@gmail.com.
authors.forename: Rosa
authors.initials: R
authors.lastname: Iodice
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Dubbioso
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Topa
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ruggiero
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pisciotta
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Marcello
authors.initials: M
authors.lastname: Esposito
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Tozza
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Italy.
authors.forename: Fiore
authors.initials: F
authors.lastname: Manganelli
mesh_terms: D000328:Adult; D017668:Age of Onset; D004569:Electroencephalography / Q000379:methods; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D019054:Evoked Potentials, Motor / Q000502:physiology; D005073:Evoked Potentials, Somatosensory / Q000502:physiology*; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D035002:Lower Extremity / Q000503:physiopathology*; D015225:Magnetoencephalography / Q000379:methods; D009431:Neural Conduction / Q000502:physiology*; D009434:Neural Pathways / Q000503:physiopathology; D052556:Niemann-Pick Disease, Type C / Q000503:physiopathology*; D055815:Young Adult
keywords: Auditory pathway; Brainstem pathology; Length dependent axonopathy; Multimodal evoked potential; Niemann–Pick disease type C; Somatosensory pathway