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Neurology 2003;61:263-265
© 2003 American Academy of Neurology
Brief Communications

Adult polyglucosan body disease

A postmortem correlation study

E. Sindern, MD, F. Ziemssen, MD, T. Ziemssen, MD, T. Podskarbi, PhD, Y. Shin, MD, F. Brasch, MD, K. M. Müller, MD, J. M. Schröder, MD, J.-P. Malin, MD and M. Vorgerd, MD

From the Departments of Neurology (Drs. Sindern, F. Ziemssen, Malin, and Vorgerd) and Pathology (Drs. Brasch and Müller), BG-Kliniken Bergmannsheil, Ruhr University, Bochum; Department of Neurology (Dr. T. Ziemssen), Technical University of Dresden; Labor für Stoffwechselgenetik (Dr. Podskarbi) and Department of Pediatrics (Dr. Shin), University of Munich; and Department of Neuropathology (Dr. Schröder), University Hospital Aachen, Germany.

Address correspondence and reprint requests to Dr. E. Sindern, Department of Neurology, Ruhr University, BG-Kliniken Bergmannsheil, Bürkle-de-la-Camp Platz 1, 44789 Bochum, Germany; e-mail: eckhart.sindern{at}ruhr-uni-bochum.de

Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms.






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