{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T18:44:16Z","timestamp":1770835456864,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2138,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adult polyglucosan body disease (APBD) is a late\u2010onset, 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 Tyr<jats:sup>329<\/jats:sup>Ser 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.<\/jats:p>","DOI":"10.1002\/ana.410440604","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:27:51Z","timestamp":1104589671000},"page":"867-872","source":"Crossref","is-referenced-by-count":108,"title":["Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr<sup>329<\/sup> Ser mutation in the glycogen\u2010branching enzyme gene"],"prefix":"10.1002","volume":"44","author":[{"given":"Alexander","family":"Lossos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeev","family":"Meiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varda","family":"Barash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dov","family":"Soffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilana","family":"Schlesinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oded","family":"Abramsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zohar","family":"Argov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoshi","family":"Shpitzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.315"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198807000-00007"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00867422"},{"issue":"2","key":"e_1_2_1_5_2","first-page":"246","article-title":"The clinical spectrum of adult polyglucosan body disease","volume":"33","author":"Karpati G","year":"1983","journal-title":"Neurology"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.4.785"},{"key":"e_1_2_1_7_2","first-page":"167","article-title":"Neuropatia con atrapamientos multiples en la enfermedad con cuerpos de poliglucosanos del adulto","volume":"10","author":"Gil\u2010Neciga E","year":"1995","journal-title":"Neurologia"},{"key":"e_1_2_1_8_2","first-page":"369","article-title":"Intra\u2010axonal polyglucosan bodies: an unusual lesion of peripheral nerves","volume":"26","author":"Carpenter S","year":"1976","journal-title":"Neurology"},{"key":"e_1_2_1_9_2","first-page":"227","article-title":"Familial dementia due to adult polyglucosan body disease","volume":"16","author":"Bigio EH","year":"1997","journal-title":"Clin Neuropathol"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880140203"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1979.00500490054009"},{"key":"e_1_2_1_12_2","first-page":"105","article-title":"Nervous system involvement in type IV glycogenosis","volume":"103","author":"McMaster KR","year":"1979","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_13_2","first-page":"935","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Chen Y\u2010T","year":"1995"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300505"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330114"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)53204-X"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118517"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799348"},{"key":"e_1_2_1_19_2","doi-asserted-by":"crossref","first-page":"15224","DOI":"10.1016\/S0021-9258(18)42169-2","article-title":"Coordinate regulation of glycogen metabolism in the yeast Saccharomyces cerevisiae: induction of glycogen branching enzyme","volume":"267","author":"Thon VJ","year":"1992","journal-title":"J Biol Chem"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)81385-3"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334454"},{"key":"e_1_2_1_22_2","first-page":"546","article-title":"Type IV glycogenosis. 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