Abstract
An ultrastructural study on skin in a patient affected by infantile neuroaxonal dystrophy (INAD) was done to evaluate its diagnostic value and to discuss the etiology of INAD.
While 84% out of 100 terminal axons around intradermal glands were dystrophic, consisting of tubulomenbranous and tubulovesicular profiles accompanied sometimes by synaptic vesicles, there were only two dystrophic axons among 540 unmyelinated axons and no dystrophic myelinated axon in intradermal nerve bundles. These observations suggest that the primary lesion of INAD is in terminal and presynaptic axons and, therefore terminal axons must be investigated when a skin biopsy is performed as a diagnostic aidin INAD.
