title: Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum.
abstract: A 65-year-old man with Tangier disease (analphalipoproteinemia) had had a progressive sensorimotor distal neuropathy with sensory ataxia for 1 year. Muscle biopsy demonstrated excess lipid vacuoles on histochemical and electron-microscopic techniques. Sural nerve biopsy showed a marked loss of large fibers and an increase in small myelinated fibers, with presence of remyelinating fibers and clusters of regeneration; a few aspects of active demyelination and some onion-like formations were also present. Lipid accumulation chiefly affected the Schwann cells of unmyelinated fibers and, to a lesser degree, of myelinated fibers, endoneurial fibroblast, and vasa nervorum. Teased fibers showed prevalent aspects of de-/remyelination and, often in association, marked myelin wrinkling suggesting axonal atrophy. This Tangier patient differs from known cases for the presence of a distal symmetrical sensorimotor polyneuropathy (not previously reported in Tangier disease) and because of the morphological findings of de-/remyelination coexisting with aspects of axonal atrophy and previous degeneration, and of lipid accumulation within striated muscle and vasa nervorum. This latter finding contrasts with the assumption that in Tangier disease vessel walls are not a site of lipid storage: probably the vasa nervorum are different, in this respect, from other vessels, because of the intense lipid metabolism of the nervous tissue. Thus we suggest that involvement of vasa nervorum in Tangier disease may be more important than previously suspected, possibly playing a role in the causation of neuropathy.
authors.forename: A
authors.initials: A
authors.lastname: Marbini
authors.forename: F
authors.initials: F
authors.lastname: Gemignani
authors.forename: G
authors.initials: G
authors.lastname: Ferrarini
authors.forename: S
authors.initials: S
authors.lastname: Maccari
authors.forename: B
authors.initials: B
authors.lastname: Lucci
authors.forename: M M
authors.initials: MM
authors.lastname: Bragaglia
authors.forename: C
authors.initials: C
authors.lastname: Plancher
authors.forename: C
authors.initials: C
authors.lastname: Vergani
mesh_terms: D000368:Aged; D001706:Biopsy; D001808:Blood Vessels / Q000378:metabolism*; D006801:Humans; D007009:Hypolipoproteinemias / Q000150:complications*; D050356:Lipid Metabolism; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D013631:Tangier Disease / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D014650:Vasa Nervorum / Q000378:metabolism*