[Sweat gland pathology in neurodegenerative disorders]

Ultrastructural pathology on sweat gland epithelium was studied in various neurodegenerative disorders; neuronal ceroid-lipofuscinosis (NCL), Lafora disease, mucopolysaccharidosis, GM1 gangliosidosis, Nieman-Pick disease, Fabry disease, Krabbe disease and metachromatic leukodystrophy (MLD). Every disease had its own characteristic inclusions in sweat gland epithelium. Curvilinear profiles and fingerprint patterns were seen in NCL, but there were no morphological differences among late infantile, early juvenile and juvenile types. On the other hand, the granular matrix was characteristic of the infantile type. The presence of specific inclusions in a 23-year-old female carrier with Fabry disease indicated that a skin biopsy was one of the useful methods to detect a female carrier. In MLD and Krabbe disease, there were disease specific inclusions in sweat gland epithelium. These results indicate that the sweat glands should be investigated when a skin biopsy is performed for the diagnosis of neurodegenerative diseases.