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Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
Ann Neurol. 1998 Dec; 44(6):867-72.AN

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 mutations 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.

Authors+Show Affiliations

Department of Neurology, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9851430

Citation

Lossos, A, et al. "Adult Polyglucosan Body Disease in Ashkenazi Jewish Patients Carrying the Tyr329Ser Mutation in the Glycogen-branching Enzyme Gene." Annals of Neurology, vol. 44, no. 6, 1998, pp. 867-72.
Lossos A, Meiner Z, Barash V, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998;44(6):867-72.
Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., & Meiner, V. (1998). Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Annals of Neurology, 44(6), 867-72.
Lossos A, et al. Adult Polyglucosan Body Disease in Ashkenazi Jewish Patients Carrying the Tyr329Ser Mutation in the Glycogen-branching Enzyme Gene. Ann Neurol. 1998;44(6):867-72. PubMed PMID: 9851430.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. AU - Lossos,A, AU - Meiner,Z, AU - Barash,V, AU - Soffer,D, AU - Schlesinger,I, AU - Abramsky,O, AU - Argov,Z, AU - Shpitzen,S, AU - Meiner,V, PY - 1998/12/16/pubmed PY - 1998/12/16/medline PY - 1998/12/16/entrez SP - 867 EP - 72 JF - Annals of neurology JO - Ann Neurol VL - 44 IS - 6 N2 - 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 mutations 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. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/9851430/Adult_polyglucosan_body_disease_in_Ashkenazi_Jewish_patients_carrying_the_Tyr329Ser_mutation_in_the_glycogen_branching_enzyme_gene_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1998&volume=44&issue=6&spage=867 DB - PRIME DP - Unbound Medicine ER -