Summary
Nerve biopsy findings are recorded for two previously reported patients with Tangier disease (hereditary high density lipoprotein deficiency). Both cases showed unusual clinical manifestations in comparison with other reported cases. The neurological disorder, symptoms from which began in the third decade, gave rise to a lower motor neuron deficit of unique distribution, which was accompanied by progressive sensory impairment limited for many years to loss of pain and temperature sensibility, ultimately involving all sensory modalities.
Both biopsy specimens displayed similar features, with a gross loss of unmyelinated and myelinated axons, an extensive accumulation of lipid within Schwann cells, and excessive endoneurial collagenization. The axonal loss appeared to represent a primary axonal degeneration, there being no evidence of a demyelinating process.
It is suggested that the accumulation of cholesterol within Schwann cells may be the result of a failure of cholesterol removal mechanisms or of intracellular lipid transport.
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Kocen, R.S., King, R.H.M., Thomas, P.K. et al. Nerve biopsy findings in two cases of Tangier disease. Acta Neuropathol 26, 317–327 (1973). https://doi.org/10.1007/BF00688079
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DOI: https://doi.org/10.1007/BF00688079