Peripheral neuropathy in neurofibromatoses

Abstract

WCN 2013 No: 2699 Topic: 7 Neuromuscular disorders Peripheral neuropathy in neurofibromatoses M. Poloni, R. Barbo. Neurosciences, HPG 23, Bergamo, Italy; Neurosciences, ICH Gavazzeni, Bergamo, Italy Neurofibromas are benign tumors which originate from peripheral nerves and are, together with others pathognomonic symptoms, a common finding in Neurofibromatosis 1 (NF1) conversely Neurofibromatosis 2 (NF2) or central neurofibromatosis is characterized by abnormal growth of Schwann cell tumors called schwannomas (SCH) at vestibular nerves, beyond meningiomas, ependimomas and SCHs of other cranial nerves or different Central Nervous System (CNS) tumors. NF1 is a genetic disorder transmitted thorough chromosome 17 due to neurofibromin alterations and abnormal tumors growth with rare Malignant Peripheral Nerve Tumors (MPNT), while NF2 is linked to merlin abnormalities and is at same genetically transmitted but through chromosome 22. Peripheral neuropathy (PN) appears rarely in NF1, ranging from 0 to 4.3 % of patients in different casistics, while retains only instrumental evidence in NF2 where mononeuropathy, generally as a foot drop or a facial palsy, is relatively common. Three interesting cases of important and distressing peripheral neuropathy, one affected by NF1 and two brothers affected by NF2, have been seen and studied at the NF Ambulatorial Center of Bergamo: we want to share the clinical and instrumental characteristics of these patients, discussing the differential diagnosis and arguing the different pathogenetic mechanisms. doi:10.1016/j.jns.2013.07.1666 Abstract WCN 2013 No: 2686 Topic: 7 Neuromuscular disorders Facial onset sensory and motor neuronopathy: A neurodegenerative TDP-43 proteinopathy? WCN 2013 No: 2686 Topic: 7 Neuromuscular disorders Facial onset sensory and motor neuronopathy: A neurodegenerative TDP-43 proteinopathy? E.P. Bosch, B.P. Goodman, J.A. Tracy, P.J.B. Dyck, C. Giannini. Neurology, Mayo Clinic Arizona, Scottsdale, AZ, USA; Neurology, Mayo Clinic Rochester, Rochester, MN, USA; Pathology, Mayo Clinic Rochester,