Case Reports
doi: 10.1002/mus.10520.
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome
Affiliations
- PMID: 14755501
- DOI: 10.1002/mus.10520
Item in Clipboard
Case Reports
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome
Muscle Nerve.
2004 Feb.
Abstract
A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.
Similar articles
-
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.Muscle Nerve. 2008 Apr;37(4):530-6. doi: 10.1002/mus.20916. Muscle Nerve. 2008. PMID: 17994551
-
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. Ann Neurol. 1998. PMID: 9851430
-
Acute but transient neurological deterioration revealing adult polyglucosan body disease.J Neurol Sci. 2013 Jan 15;324(1-2):179-82. doi: 10.1016/j.jns.2012.10.015. Epub 2012 Nov 10. J Neurol Sci. 2013. PMID: 23146612
-
Update on polyglucosan storage diseases.Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
-
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.J Inherit Metab Dis. 2021 May;44(3):534-543. doi: 10.1002/jimd.12325. Epub 2020 Nov 13. J Inherit Metab Dis. 2021. PMID: 33141444 Review.
Cited by
-
Characterization of cognitive impairment in adult polyglucosan body disease.J Neurol. 2022 Jun;269(6):2854-2861. doi: 10.1007/s00415-022-10960-z. Epub 2022 Jan 8. J Neurol. 2022. PMID: 34999962 Free PMC article. Review.
-
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.Ann Clin Transl Neurol. 2020 Nov;7(11):2186-2198. doi: 10.1002/acn3.51211. Epub 2020 Oct 9. Ann Clin Transl Neurol. 2020. PMID: 33034425 Free PMC article.
-
A diagnostic algorithm for metabolic myopathies.Curr Neurol Neurosci Rep. 2010 Mar;10(2):118-26. doi: 10.1007/s11910-010-0096-4. Curr Neurol Neurosci Rep. 2010. PMID: 20425236 Free PMC article. Review.
-
Endocrine, metabolic, nutritional, and toxic disorders leading to dementia.Ann Indian Acad Neurol. 2010 Dec;13(Suppl 2):S63-8. doi: 10.4103/0972-2327.74247. Ann Indian Acad Neurol. 2010. PMID: 21369420 Free PMC article.
-
[Polyglycosan body myopathy].Nervenarzt. 2006 Dec;77(12):1487-91. doi: 10.1007/s00115-006-2184-x. Nervenarzt. 2006. PMID: 17106730 German.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
