Mark A Hellmann, Or Kakhlon, Ezekiel H Landau, Menachem Sadeh, Nir Giladi, Ilana Schlesinger, Daphne Kidron, Oded Abramsky, Avinoam Reches, Zohar Argov, Jose M Rabey, Joab Chapman, Hanna Rosenmann, Aya Gal, J Moshe Gomori, Vardiella Meiner, Alexander Lossos
Adult polyglucosan body disease (APBD) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Misdiagnosis of APBD may lead to unnecessary investigations and to potentially harmful therapeutic interventions. To examine the frequency of misdiagnosis of APBD, we retrospectively reviewed the clinical data of 30 patients diagnosed between 1991 and 2013. Diagnosis was based on the combination of typical clinical and imaging findings, reduced glycogen branching enzyme activity, and the presence of p...
October 2015: Journal of Neurology