|· Rare autosomal recessive· First described-1960- when unusual inclusions were seen in tonsillectomy specimen taken from a boy living on Tangier Island Virginia. Tonsillar enlargement occasioned by the cholesterol deposition linked to low levels of HDL.· Axonal degeneration affecting small myelinated, unmyelinated axons· Linked to low levels of HDL
· Less than 100 cases in literature
· Tangier neuropathy in 3 subtypes.
· 1st-assymetrical relapsing/remitting sensorimotor neuropathy. Associated with normal NCV, but distal motor latency values may be prolonged. Cranial, upper/lower extremity mononeuropathy.
· 2nd—Slowly progressive peripheral polyneuropathy affecting lower extremities; normal NCV because small fiber involvement.
· 3rd “Pseudosyrinx” Slowly progressive neuropathy affecting face and upper extremities. Pain/temp loss early, all sensory modalities affected late.
· Course of neuropathy may be benign or debilitating
· Pathology—Schwann cell lipid deposits, endoneural fibrosis, loss of small myelinated, unmyelinated fibers.