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
Kathleen Ritter Kathleen Ritter Kathleen Ritter (born 1974) is an artist, curator, and writer based in Vancouver and Paris who focuses on contemporary art. Ritter graduated from the Emily Carr University of Art + Design with a BFA in 1998 and obtained an MFA from the University of Western Ontario in 2005. In 2013, Ritter was an artist in residence at La Cité Internationale des Arts in Paris and worked at the Vancouver Art Gallery as Associate Curator. She was a visiting artist in residency at Open Studio, Toronto, in the spring of 2017. Ritter also works as a part of the