Laboratory for Ultrastructural Neuropathology (LUN)
4. Activities of scientific services to third parties.
- In collaboration with neuropediatricians and neurologists from different academic centres, we investigate skin biopsies from patients in which the clinical diagnostical work-up is problematical. Since this diagnostic facility is not a routine screening activity in our laboratory, it is only performed for patients with a progressive encephalopathy to orientate direct biochemical or molecular analysis. Moreover, technical directives regarding tissue removal and fixation procedures (see Documents) are mandatory. A precise diagnosis can be achieved or ruled out mainly in children with therapeutically resistent epilepsy and in adult patients with particular clinical features. Currently, skin biopsies are still useful in neuronal ceroid lipofuscinoses and in neurometabolic storage disorders in which the basic defect is unknown. Even in CADASIL and in particular hereditary, peripheral neuropathies we offer such diagnostic facilities. Accordingly to the disease patterns, eccrine and apocrine sweat glands, blood vessels and myelinated nerve bundles are examined to find out specific diagnostic inclusions or particular ultrastructural features.
- Skeletal muscle- and peripheral nerve biopsies are examined additionally to LM and immunohistochemical results to confirm findings or to complete morphological data. In specific disorders such as for example in “inclusion body myositis”, diagnostic intranuclear tubulofilamentar inclusions can only be confirmed by EM.
- Assistance, support and advice are given to neuropathologists and researchers regarding a “second opinion” in complex diagnostical and technical work-ups. Slides and micrographs may be submitted.