Adult polyglucosan body disease -: A postmortem correlation study

被引：25

作者：

Sindern, E

Ziemssen, F

Ziemssen, T

Podskarbi, T

Shin, Y

Brasch, F

Müller, KM

Schröder, JM

Malin, JP

Vorgerd, M

机构：

[1] Ruhr Univ Bochum, GB Kliniken Bergmannsheil, Dept Neurol, D-44789 Bochum, Germany

[2] Ruhr Univ Bochum, GB Kliniken Bergmannsheil, Dept Pathol, D-44789 Bochum, Germany

[3] Tech Univ Dresden, Dept Neurol, Dresden, Germany

[4] Univ Munich, Dept Pediat, D-80539 Munich, Germany

[5] Univ Munich, Lab Stoffwechselgenet, D-80539 Munich, Germany

[6] Univ Hosp Aachen, Dept Neuropathol, Aachen, Germany

来源：

NEUROLOGY | 2003年 / 61卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000073144.96680.CB

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations ( Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms.

引用

页码：263 / 265

页数：3

共 11 条

[1] Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene [J].