Publications

Chart of GBE1 mutations

Adanyeguh IM, Rinaldi D, Henry PG, Caillet S, Valabregue R, Durr A, Mochel F. Triheptanoin improves brain energy metabolism in patients with Huntington disease. Neurology. 2015 Jan 7. pii: 10.1212/WNL.0000000000001214. 

H. Orhan Akman, PhD; Or Kakhlon, PhD; Jorida Coku, MS; Lorenzo Peverelli, MD; Hanna Rosenmann, PhD; Lea Rozenstein-Tsalkovich, BSc; Julie Turnbull, PhD; Vardiella Meiner, MD; Liat Chama, BSc; Israela Lerer, PhD; Shoshi Shpitzen, MS; Eran Leitersdorf, MD; Carmen Paradas, MD; Mary Wallace, LD, CCRC; Raphael Schiffmann, MD; Salvatore DiMauro, MD; Alexander Lossos, MD; Berge A. Minassian, MD. “Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease.” JAMA Neurology, Vol 72, No. 4, April 2015.

Akman HO, Raghavan A, Craigen WJ. Animal models of glycogen storage disorders. Prog Mol Biol Transl Sci. 2011;100:369-388.

Akman HO, Sheiko T, Tay SK et al. Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011;20:4430-4439.

Akman HO, Emmanuele V, Gülcan Kurt Y, Bülent Kurt, Sheiko T, DiMauro S and Craigen WJ. A novel mouse model that recapitulates adult-onset glycogenosis type 4 Human Molecular Genetics, 2015, 1–10; doi: 10.1093/hmg/ddv385

Allaman I, Belanger M, Magistretti PJ. Astrocyte-neuron metabolic relationships: for better and for worse. Trends Neurosci. 2011;34:76-87.

Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogenbranching enzyme gene. J Clin Invest. 1996;97:941-948.

Bendroth-Asmussen Lisa, M.D., Aksglaede Lise, M.D., Ph.D., Gernow Anne B. , M.D., and Lund Allan M., M.D., D.M.Sc. Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. Int J Gynecol Pathol 2015 Jul 9. Epub 2015 Jul 9.

Berkhoff M, Weis J, Schroth G, Sturzenegger M. Extensive white-matter changes in case of adult polyglucosan body disease. Neuroradiology 2001;43:234-6.

Bigio EH, Weiner MF, Bonte FJ, White CL. Familial dementia due to adult polyglucosan body disease. Clin Neuropathol. 1997;16:227-234.

Bruno C, Servidei S, Shanske S et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol. 1993;33:88-93.

Busard HL, Gabreels-Festen AA, Renier WO et al. Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol. 1991;29:448-451.

Cafferty MS, Lovelace RE, Hays AP et al. Polyglucosan body disease. Muscle Nerve. 1991;14:102-107.

Colombo I., Pagliarani S., Testolin S., Salsano E.,  Napoli L.M., Bordoni A., Salani S., D’Adda E., Morandi L., Farina L., Magri F., Riva M., Prelle A., Sciacco M.,  Comi G.P., Moggio M. Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family. Neuromuscular Disorders 25 (2015) 423–428

Farina L, Pareyson D, Minati L et al. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol. 2008;29:1190-1196.

D. Sean Froese, Amit Michaeli, Thomas J. McCorvie, Tobias Krojer, Meitav Sasi, Esther Melaev, Amiram Goldblum, Maria Zatsepin, Alexander Lossos, Rafael Alvarez, Pablo V. Escriba, Berge A. Minassian, Frank von Delft, Or Kakhlon, and Wyatt W. Yue. “Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.” Human Molecular Genetics, Vol. 24, Issue 20, pp 5667-5676
Gray F, Gherardi R, Marshall A et al. Adult polyglucosan body disease (APBD). J Neuropathol Exp Neurol. 1988;47:459-474.

Hellmann MA1, Kakhlon O, Landau EH, Sadeh M, Giladi N, Schlesinger I, Kidron D, Abramsky O, Reches A, Argov Z, Rabey JM, Chapman J, Rosenmann H, Gal A, Moshe Gomori J, Meiner V, Lossos A. “Frequent misdiagnosis of adult polyglucosan body disease.” J Neurology, 2015 Oct;262(10):2346-51. doi: 10.1007/s00415-015-7859-4. Epub 2015 Jul 21.

Kahlon, O, A Lossos, H Glickstein, N Feinstein, Y Liu, O Baba, T Terashima, HO Akman, and S DiMauro. “Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.” Journal of Neurochemistry 10.1111 (2013): n. pag. Journal of Neurochemistry. Web. 9 May 2013.

Kakkis et al. Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. Orphanet Journal of Rare Diseases (2015) 10:16 DOI 10.1186/s13023-014-0195-4

Kishnani PS, Koeberl D, Chen Y-T. Glycogen Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS et al., eds. Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2009.

Klein CJ, Boes CJ, Chapin JE et al. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004;29:323-328.

Klein CJ. Adult polyglucosan body disease. GeneReviews. Seattle: University of Washington, 2009.

Kniffin, Cassandra L. Polyglucosan body disease, adult form. http://www.omim.org/entry/263570

Kollberg Gittan, Tulinius Már, Gilljam Thomas,Östman-Smith Ingegerd,Forsander Gun, Jotorp Peter, Oldfors Anders and Holme Elisabeth. Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0. The New England Journal of Medicine. 2007;357:1507-14.

Labauge P. Magnetic resonance findings in leucodystrophies and MS. Int MS J. 2009;16:47-56.

Lossos A, Meiner Z, Barash V et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogenbranching enzyme gene. Ann Neurol. 1998;44:867-872.

Lossos A, Barash V, Soffer D et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol. 1991;30:655-662.

Maruyama K, Suzuki T, Koizumi T et al. Congenital form of glycogen storage disease type IV: a case report and a review of the literature. Pediatr Int. 2004;46:474-477.

Massa R, Bruno C, Martorana A et al. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve. 2008;37:530-536.

McConkie-Rosell A, Wilson C, Piccoli DA et al. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis. 1996;19:51-58.

Milde P, Guccion JG, Kelly J et al. Adult polyglucosan body disease. Arch Pathol Lab Med. 2001;125:519-522.

Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med. 2002;2:177-188.

Mochel Fanny et al. Adult Polyglucosan Body Disease: Natural History and Key MRI Findings. Accepted Article, doi: 10.1002/ana.23598

Negishi C, Sze G. Spinal cord MRI in adult polyglucosan body disease. J Comput Assist Tomogr. 1992;16:824-826.

Orho Marju, Bosshard Nils U.,Buist Neil R.M., Gitzelmann Richard,Aynsley-Green Albert, Blümel 􏰌 Peter,
Gannon Mary C., Nuttall Frank Q.,Groop Leif C. Mutations in the Liver Glycogen Synthase Gene in Children with Hypoglycemia due to Glycogen Storage Disease Type 0. The American Society for Clinical Investigation, Inc. Volume 102, Number 3, August 1998, 507–515. 0021-9738/98/08/0507/09.

Rifai Z, Klitzke M, Tawil R et al. Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. Arch Neurol. 1994;51:90-94.

Robitaille Y, Carpenter S, Karpati G, DiMauro SD. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora’s disease and normal ageing. Brain. 1980;103:315-336.

Scheper GC, van der Klok T, van Andel RJ et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007;39:534-539.

Schroder JM, May R, Shin YS et al. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol. 1993;85:419-430.

Schuster J, Sundblom J, Thuresson AC et al. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics. 2011;12:65-72.

Segers K, Kadhim H, Colson C et al. Adult Polyglucosan Body Disease Masquerading as “ALS With Dementia of the Alzheimer Type”: An Exceptional Phenotype in a Rare Pathology. Alzheimer Dis Assoc Disord. 2011.

Sindern E, Ziemssen F, Ziemssen T et al. Adult polyglucosan body disease: a postmortem correlation study. Neurology. 2003;61:263-265.

Swinney, David C. and Anthony, Jason. How were new medicines discovered? Nature Reviews, Drug discovery, Volume 10, July 2011, 507

Tay SK, Akman HO, Chung WK et al. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004;14:253-260.

Ubogu EE, Hong ST, Akman HO et al. Adult polyglucosan body disease: a case report of a manifesting heterozygote. Muscle Nerve. 2005;32:675-681.

Van der Knaap MS, Breiter SN, Naidu S et al. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 1999;213:121-133.

Vucic S, Pamphlett R, Wills EJ, Yiannikas C. Polyglucosan body disease myopathy: an unusual presentation. Muscle Nerve. 2007;35:536-539.

Ziemssen F, Sindern E, Schroder JM et al. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol. 2000;47:536-540.

 

Genetics

Manifesting Heterozygotes

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Symptoms

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