Adult polyglucosan body disease body disease do not have identified mutations in the "GBE1" gene. In these individuals, the cause of the disease is unknown. Along with evaluation of the symptoms and a neurological examination, a diagnosis can be made based on genetic testing. Whether or not a person is making sufficient amounts of functional glycogen branching enzyme can be determined by taking a skin biopsy and testing for activity of the enzyme. Examination of tissue biopsied from the sural nerve under a microscope can reveal the presence of polyglucosan bodies. There will also be white matter changes visible in a magnetic resonance imaging
Neoteny in humans lower second and third molars. Populations with a history of dairy farming have evolved to be lactose tolerant in adulthood, whereas other populations generally lose the ability to break down lactose as they grow into adults. Down syndrome neotenizes the brain and body. The syndrome is characterized by decelerated maturation (neoteny), incomplete morphogenesis (vestigia) and atavisms. Neoteny in humans Neoteny in humans is the retention of juvenile features well into adulthood. This trend is greatly amplified in humans especially when compared to non-human primates. Adult humans more closely resemble the infants of gorillas and chimpanzees than the adults. Neotenic features