Literature DB >> 12874416

Adult polyglucosan body disease: a postmortem correlation study.

E Sindern1, F Ziemssen, T Ziemssen, T Podskarbi, Y Shin, F Brasch, K M Müller, J M Schröder, J-P Malin, M Vorgerd.   

Abstract

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.

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Year:  2003        PMID： 12874416     DOI： 10.1212/01.wnl.0000073144.96680.cb

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

1.  Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions.

Authors:  Jill G Farmer; Barbara J Crain; Brent T Harris; R Scott Turner
Journal:  Neurocase       Date:  2012-04-16       Impact factor: 0.881

2.  A case of adult polyglucosan body disease.

Authors:  Seung-Yeob Lee; Jae-Hyeon Park; So Hun Kim; Tai-Seung Kim; Won-Joo Kim; Young-Chul Choi
Journal:  Yonsei Med J       Date:  2007-08-31       Impact factor: 2.759

3.  Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Authors:  Andreia Carvalho; Joana Nunes; Ricardo Taipa; Manuel Melo Pires; Jorge Pinto Basto; Pedro Barros
Journal:  Neurol Sci       Date:  2021-01-31       Impact factor: 3.307

4.  Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Authors:  Fanny Mochel; Raphael Schiffmann; Marjan E Steenweg; Hasan O Akman; Mary Wallace; Frédéric Sedel; Pascal Laforêt; Richard Levy; J Michael Powers; Sophie Demeret; Thierry Maisonobe; Roseline Froissart; Bruno Barcelos Da Nobrega; Brent L Fogel; Marvin R Natowicz; Catherine Lubetzki; Alexandra Durr; Alexis Brice; Hanna Rosenmann; Varda Barash; Or Kakhlon; J Moshe Gomori; Marjo S van der Knaap; Alexander Lossos
Journal:  Ann Neurol       Date:  2012-09       Impact factor: 10.422

5.  Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Authors:  Sing-Chung Li; Chiao-Ming Chen; Jennifer L Goldstein; Jer-Yuarn Wu; Emmanuelle Lemyre; Thomas Andrew Burrow; Peter B Kang; Yuan-Tsong Chen; Deeksha S Bali
Journal:  J Inherit Metab Dis       Date:  2010-01-08       Impact factor: 4.982

Review 6.  Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors:  F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

7.  A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

Authors:  Raphael Schiffmann; Mary E Wallace; Daisy Rinaldi; Isabelle Ledoux; Marie-Pierre Luton; Scott Coleman; H Orhan Akman; Karine Martin; Jean-Yves Hogrel; Derek Blankenship; Jacob Turner; Fanny Mochel
Journal:  J Inherit Metab Dis       Date:  2017-11-06       Impact factor: 4.982
  7 in total

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