Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen-branching enzyme gene
Corresponding Author
Dr. Alexander Lossos MD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Department of Neurology, Hadassah University Hospital, POB 12000, Jerusalem 91120, IsraelSearch for more papers by this authorZeev Meiner MD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorVarda Barash PhD
Department of Biochemistry, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorDov Soffer MD
Department of Pathology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorIlana Schlesinger MD
Department of Neurology, Sapir Medical Center, Kfar Saba, Israel
Search for more papers by this authorOded Abramsky MD, PhD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorZohar Argov MD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorShoshi Shpitzen MSc
Department of Medical Genetics/Center for Research, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorVardiella Meiner MD
Department of Medical Genetics/Center for Research, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorCorresponding Author
Dr. Alexander Lossos MD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Department of Neurology, Hadassah University Hospital, POB 12000, Jerusalem 91120, IsraelSearch for more papers by this authorZeev Meiner MD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorVarda Barash PhD
Department of Biochemistry, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorDov Soffer MD
Department of Pathology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorIlana Schlesinger MD
Department of Neurology, Sapir Medical Center, Kfar Saba, Israel
Search for more papers by this authorOded Abramsky MD, PhD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorZohar Argov MD
Department of Neurology, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorShoshi Shpitzen MSc
Department of Medical Genetics/Center for Research, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorVardiella Meiner MD
Department of Medical Genetics/Center for Research, Prevention and Treatment of Atherosclerosis, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem
Search for more papers by this authorAbstract
Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to APBD, is an early childhood disorder with primarily systemic manifestations. Recently, the GBE cDNA was cloned and several mutations were characterized in different clinical forms of GSD IV. To examine whether mutatins in the GBE gene account for APBD, we studied 7 patients from five Jewish families of Ashkenazi ancestry. The diagnosis was based on the typical clinical and pathological findings, and supported by reduced GBE activity. We found that the clinical and biochemical APBD phenotype in all five families cosegregated with the Tyr329Ser mutation, not detected in 140 controls. As this mutation was previously identified in a nonprogressive form of GSD IV and was shown in expression studies to result in a significant residual GBE activity, present findings explain the late onset and slowly progressive course of APBD in our patients. We conclude that APBD represents an allelic variant of GSD IV, but the reason for the difference in primary tissue involvement must be established.
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