Summary
The bioptical morphometric and ultrastructural study of sural nerve in a 17-year-old boy with ataxia-telangiectasia (AT) is reported. Our findings include a loss of fibers, particularly of large ones, axonal degenerative changes, Schwann cell inclusions of various type, and rare signs of primary demyelination. Teased-fiber study showed paranodal myelin enlargements, segmental demyelination, shortening, and/or variability of internodal length. This picture is similar to that in Friedreich's ataxia (FA), although they differ in degree and time of onset. A correct neuropathologic diagnosis of AT cannot be made on the basis of sural nerve biopsy alone.
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Barbieri, F., Santoro, L., Crisci, C. et al. Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia?. Acta Neuropathol 69, 213–219 (1986). https://doi.org/10.1007/BF00688296
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DOI: https://doi.org/10.1007/BF00688296