Pathogenic cascades and brain dysfunction
Lysosomal diseases begin quite simply as single gene mutations that affect the function of one protein. This protein may be an enzyme critical in the degradative action of the lysosomal system or in the processing and/or trafficking of such enzymes to the lysosome. The pathophysiological consequences in brain ultimately play out as an expanding cascade involving multiple substrate accumulation and widespread, but variable, impact on different types of neurones and glia. In some cases these changes may actually appear as regenerative, as seen in the new growth of dendrites and formation of synaptic connections in Tay–Sachs disease, but which more likely lead to inappropriate connections and neuron dysfunction. This chapter discusses the pathogenic cascade in brain; the why, where, and what of storage; the cellular consequences of storage; and functional assessment of brain.
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