In the present overview, practical application of the visual evoked potential (VEP) in paediatric neuro-ophthalmology is described across a wide range of ophthalmogenetic disorders, including albinism, Pelizaeus-Merzbacher disease and spastic paraplegia. The VEP approach is based on a four parameter subdivision of the electrophysiological response which includes, (1) amplitude (microV), (2) lat...

In this paper we describe a joint approach for robot navigation with collision avoidance, pose estimation and map building with a 2.5D PMD (Photonic Mixer Device)-Camera combined with a highresolution spherical camera. The cameras are mounted at the front of the robot with a certain inclination angle. The navigation and map building consists of two steps: When entering new terrain the robot fir...

Chromosome structural changes with nonrecurrent endpoints associated with genomic disorders offer windows into the mechanism of origin of copy number variation (CNV). A recent report of nonrecurrent duplications associated with Pelizaeus-Merzbacher disease identified three distinctive characteristics. First, the majority of events can be seen to be complex, showing discontinuous duplications mi...

PURPOSE To determine whether pontomedullary corticospinal tract involvement is a common and specific finding of adrenoleukodystrophy on MR images. METHODS MR images of 10 patients with biochemically proved adrenoleukodystrophy who were examined during the last 6 years were reviewed retrospectively to determine the frequency of corticospinal tract involvement in the medulla, pons, mesencephalo...

PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...

Duplications and overexpression of the proteolipid protein (PLP) gene are known to cause the dysmyelinating disorder Pelizaeus-Merzbacher disease (PMD). To understand the cellular response to overexpressed PLP in PMD, we have overexpressed PLP in BHK cells and primary cultures of oligodendrocytes with the Semliki Forest virus expression system. Overexpressed PLP was routed to late endosomes/lys...