6533b834fe1ef96bd129e29e
RESEARCH PRODUCT
Axonal pathology of the skin in infantile neuroaxonal dystrophy.
Y. SasakiI. WarloHans-hilmar GoebelSeiji Kimurasubject
MalePathologymedicine.medical_specialtyAxonal pathologySynaptic vesiclePathology and Forensic MedicineInfantile neuroaxonal dystrophyCellular and Molecular NeurosciencemedicineHumansAxonNeuroaxonal dystrophySkinmedicine.diagnostic_testbusiness.industryLeukodystrophyInfantAnatomyPrimary lesionmedicine.diseaseAxonsSweat Glandsmedicine.anatomical_structurenervous systemChild PreschoolSkin biopsyFemaleNeurology (clinical)Nervous System Diseasesbusinessdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1987-01-01 | Acta neuropathologica |