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Related Experiment Videos

Peripheral neuropathy in Tangier disease.

M Pollock, H Nukada, R W Frith

    Brain : a Journal of Neurology
    |December 1, 1983
    PubMed
    Summary

    Tangier disease can present with varied peripheral nerve damage, including demyelination and lipid vacuoles in Remak cells or nerve degeneration. Normal cholesterol doesn't rule out Tangier disease, necessitating lipoprotein and cholesterol level checks for specific neuropathies.

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    Area of Science:

    • Neurology
    • Metabolic Disorders
    • Pathology

    Background:

    • Tangier disease is a rare lipid metabolism disorder.
    • Peripheral neuropathy is a known but variable manifestation of Tangier disease.

    Observation:

    • Peripheral nerve morphometry in four Tangier disease patients revealed distinct patterns.
    • Three patients with multifocal neuropathy showed demyelination/remyelination and Remak cell lipid vacuoles.
    • One patient with syringomyelia-like neuropathy exhibited advanced degeneration and widespread lipid vacuoles.

    Findings:

    • Tangier disease presents with heterogeneous peripheral nerve pathology, including multifocal demyelination and diffuse degeneration.
    • Lipid vacuoles in peripheral nerves of Tangier disease patients can be localized to Remak cells or distributed globally.
    • Normal serum cholesterol levels do not exclude Tangier disease.

    Implications:

    • The clinical variability suggests potential genetic influences or distinct metabolic pathways in Tangier disease.
    • Diagnosing Tangier disease in patients with undiagnosed multifocal or syringomyelia-like neuropathies requires assessing high-density lipoproteins and serum cholesterol.
    • This study highlights the importance of comprehensive lipid profiling for diagnosing atypical neuropathies.

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