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Yang, C. Adult Polyglucosan Body Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4660 (accessed on 26 September 2026).
Yang C. Adult Polyglucosan Body Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4660. Accessed September 26, 2026.
Yang, Catherine. "Adult Polyglucosan Body Disease" Encyclopedia, https://encyclopedia.pub/entry/4660 (accessed September 26, 2026).
Yang, C. (2020, December 24). Adult Polyglucosan Body Disease. In Encyclopedia. https://encyclopedia.pub/entry/4660
Yang, Catherine. "Adult Polyglucosan Body Disease." Encyclopedia. Web. 24 December, 2020.
Adult Polyglucosan Body Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease

Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). As a result, affected individuals can have an unsteady gait, poor balance, and an increased risk of falling.

 

genetic conditions

References

  1. Akman HO, Lossos A, Kakhlon O. GBE1 Adult Polyglucosan Body Disease. 2009 Apr 2 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK5300/
  2. Hellmann MA, 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, MosheGomori J, Meiner V, Lossos A. Frequent misdiagnosis of adult polyglucosan bodydisease. J Neurol. 2015 Oct;262(10):2346-51. doi: 10.1007/s00415-015-7859-4.
  3. Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adultpolyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8.
  4. Köhler W, Curiel J, Vanderver A. Adulthood leukodystrophies. Nat Rev Neurol.2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175.
  5. Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z,Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewishpatients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.Ann Neurol. 1998 Dec;44(6):867-72.
  6. Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A.Adult polyglucosan body disease: proton magnetic resonance spectroscopy of thebrain and novel mutation in the GBE1 gene. Muscle Nerve. 2008 Apr;37(4):530-6.
  7. Milde P, Guccion JG, Kelly J, Locatelli E, Jones RV. Adult polyglucosan bodydisease. Arch Pathol Lab Med. 2001 Apr;125(4):519-22.
  8. Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O,Gomori JM, van der Knaap MS, Lossos A. Adult polyglucosan body disease: NaturalHistory and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012Sep;72(3):433-41. doi: 10.1002/ana.23598.
  9. Savage G, Ray F, Halmagyi M, Blazely A, Harper C. Stable neuropsychologicaldeficits in adult polyglucosan body disease. J Clin Neurosci. 2007May;14(5):473-7.
  10. Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM,Schröder JM, Malin JP, Vorgerd M. Adult polyglucosan body disease: a postmortemcorrelation study. Neurology. 2003 Jul 22;61(2):263-5.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Update Date: 24 Dec 2020
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