title: Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy.
abstract: Pathological studies of a sural nerve biopsy in a man with Tangier disease presenting as a remitting-relapsing multifocal neuropathy showed abnormalities in the paranodal regions, including lipid deposition (65%) and redundant myelin foldings, with various degrees of myelin splitting and vesiculation (43%) forming small tomacula and abnormal myelin terminal loops (4%). The internodal regions were normal in the majority of myelinated fibres. Abnormal lipid storage was also present in the Schwann cells of the majority of unmyelinated fibres (67%). The evidence suggests that the noncompacted myelin region of the paranode is a preferential site for lipid storage in the myelinated Schwann cell, and that the space-occupying effects of the cholesterol esters leads to paranodal malfunction and tomacula formation as the pathological basis for the multifocal relapsing-remitting clinical course.
authors: Hanson Institute Centre for Neurological Diseases, Institute of Medical and Veterinary Science, Adelaide, South Australia 5000, Australia.
authors: Z
authors: Z
authors: Cai
authors: P C
authors: PC
authors: Blumbergs
authors: K
authors: K
authors: Cash
authors: P J
authors: PJ
authors: Rice
authors: J
authors: J
authors: Manavis
authors: J
authors: J
authors: Swift
authors: M N
authors: MN
authors: Ghabriel
authors: P D
authors: PD
authors: Thompson