PMID- 3434228 OWN - NLM STAT- MEDLINE DCOM- 19880304 LR - 20190812 IS - 0001-6322 (Print) IS - 0001-6322 (Linking) VI - 75 IP - 2 DP - 1987 TI - Axonal pathology of the skin in infantile neuroaxonal dystrophy. PG - 212-5 AB - Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD. FAU - Kimura, S AU - Kimura S AD - Department of Pediatrics, Yokohama City University School of Medicine, Japan. FAU - Sasaki, Y AU - Sasaki Y FAU - Warlo, I AU - Warlo I FAU - Goebel, H H AU - Goebel HH LA - eng PT - Case Reports PT - Journal Article PL - Germany TA - Acta Neuropathol JT - Acta neuropathologica JID - 0412041 SB - IM MH - Axons/*ultrastructure MH - Child, Preschool MH - Female MH - Humans MH - Infant MH - Male MH - Nervous System Diseases/*pathology MH - Skin/*innervation MH - Sweat Glands/innervation EDAT- 1987/01/01 00:00 MHDA- 1987/01/01 00:01 CRDT- 1987/01/01 00:00 PHST- 1987/01/01 00:00 [pubmed] PHST- 1987/01/01 00:01 [medline] PHST- 1987/01/01 00:00 [entrez] AID - 10.1007/BF00687084 [doi] PST - ppublish SO - Acta Neuropathol. 1987;75(2):212-5. doi: 10.1007/BF00687084.