Chapter 9 Neurometabolic and neurodegenerative diseases in children

Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Josefine Radke, Werner Stenzel, Hans Hilmar Goebel Neurometabolic and neurodegenerative diseases in children (NDDC) differ from those in adults in that most of the former are autosomal-recessively inherited – few have X-linked inheritance – while the latter are often sporadic or autosomal-dominantly inherited. NDDC may be catabolic and/or anabolic conditions, some of which combine maldevelopmental and degenerative features, for instance, peroxisomal biogenesis disorders or congenital disorders of glycosylation. NDDC are often multiorgan disorders, such as lysosomal, peroxisomal, and polyglucosan disorders. This multiorgan involvement may be marked by extracerebral formation of disease-specific neuropathologic findings, especially in lysosomal diseases allowing diagnostic biopsies in easily accessible tissues, e.g., blood lymphocytes, skin, skeletal muscle, and rectum to be investigated by electron microscopy. NDDC comprise nonvacuolar and vacuolar lysosomal, peroxisomal, polyglucosan, amino and organic acid, white-matter disorders, and congenital disorders of glycosylation.

Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research