Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen‐branching enzyme gene
- 1 December 1998
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 44 (6) , 867-872
- https://doi.org/10.1002/ana.410440604
Abstract
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.Keywords
This publication has 24 references indexed in Scilit:
- Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.Journal of Clinical Investigation, 1996
- Clinical and laboratory findings in four patients with the non‐progressive hepatic form of type IV glycogen storage diseaseJournal of Inherited Metabolic Disease, 1995
- Jewish diseases and originsNature Genetics, 1995
- Glycogen branching enzyme deficiency in adult polyglucosan body diseaseAnnals of Neurology, 1993
- Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patientsAnnals of Neurology, 1991
- Polyglucosan body diseaseMuscle & Nerve, 1991
- A new variant of type IV glycogenosis: Deficiency of branching enzyme activity without apparent progressive liver diseaseHepatology, 1988
- Severe cardiopathy in branching enzyme deficiencyThe Journal of Pediatrics, 1987
- Isolation and characterization of glycogen branching enzyme from rabbit liverBiochemistry, 1983
- A DISTINCT FORM OF ADULT POLYGLUCOSAN BODY DISEASE WITH MASSIVE INVOLVEMENT OF CENTRAL AND PERIPHERAL NEURONAL PROCESSES AND ASTROCYTESBrain, 1980