Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy.
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.
Cai
Z
Z
Hanson Institute Centre for Neurological Diseases, Institute of Medical and Veterinary Science, Adelaide, South Australia 5000, Australia.
Blumbergs
P C
PC
Cash
K
K
Rice
P J
PJ
Manavis
J
J
Swift
J
J
Ghabriel
M N
MN
Thompson
P D
PD