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Adult polyglucosan body neuropathy

MedGen UID:
865555
•Concept ID:
C4017118
•
Finding
Synonym: ADULT POLYGLUCOSAN BODY NEUROPATHY
 
OMIM®: 607839

Professional guidelines

PubMed

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138

Recent clinical studies

Etiology

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Frequent misdiagnosis of adult polyglucosan body disease.
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, Moshe Gomori J, Meiner V, Lossos A
J Neurol 2015 Oct;262(10):2346-51. Epub 2015 Jul 21 doi: 10.1007/s00415-015-7859-4. PMID: 26194201
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G
Neuromuscul Disord 2015 Mar;25(3):247-52. Epub 2014 Nov 18 doi: 10.1016/j.nmd.2014.11.006. PMID: 25544507

Diagnosis

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab 2023 Mar;138(3):107525. Epub 2023 Jan 25 doi: 10.1016/j.ymgme.2023.107525. PMID: 36796138
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Frequent misdiagnosis of adult polyglucosan body disease.
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, Moshe Gomori J, Meiner V, Lossos A
J Neurol 2015 Oct;262(10):2346-51. Epub 2015 Jul 21 doi: 10.1007/s00415-015-7859-4. PMID: 26194201
Adult polyglucosan body disease associated with an extrapyramidal syndrome.
Robertson NP, Wharton S, Anderson J, Scolding NJ
J Neurol Neurosurg Psychiatry 1998 Nov;65(5):788-90. doi: 10.1136/jnnp.65.5.788. PMID: 9810960Free PMC Article
Polyglucosan body disease.
Cafferty MS, Lovelace RE, Hays AP, Servidei S, Dimauro S, Rowland LP
Muscle Nerve 1991 Feb;14(2):102-7. doi: 10.1002/mus.880140203. PMID: 1847989

Prognosis

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi PA, Sumner CJ, Roda RH, Chaudhry V, Lloyd TE, Crawford TO, Subramony SH, Oh SJ, Richardson P, Tanji K, Kwan JY, Fischbeck KH, Mankodi A
J Neurol Neurosurg Psychiatry 2021 Nov;92(11):1186-1196. Epub 2021 Jun 8 doi: 10.1136/jnnp-2020-325437. PMID: 34103343Free PMC Article
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G
Neuromuscul Disord 2015 Mar;25(3):247-52. Epub 2014 Nov 18 doi: 10.1016/j.nmd.2014.11.006. PMID: 25544507
Sevoflurane anaesthesia for a patient with adult polyglucosan body disease.
Inoue S, Ishii R, Fukuda H, Saitoh K, Shimizu R
Can J Anaesth 1996 Dec;43(12):1257-9. doi: 10.1007/BF03013436. PMID: 8955978

Clinical prediction guides

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi PA, Sumner CJ, Roda RH, Chaudhry V, Lloyd TE, Crawford TO, Subramony SH, Oh SJ, Richardson P, Tanji K, Kwan JY, Fischbeck KH, Mankodi A
J Neurol Neurosurg Psychiatry 2021 Nov;92(11):1186-1196. Epub 2021 Jun 8 doi: 10.1136/jnnp-2020-325437. PMID: 34103343Free PMC Article
Progress and problems in muscle glycogenoses.
DiMauro S, Spiegel R
Acta Myol 2011 Oct;30(2):96-102. PMID: 22106711Free PMC Article

Recent systematic reviews

Characterization of cognitive impairment in adult polyglucosan body disease.
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M
J Neurol 2022 Jun;269(6):2854-2861. Epub 2022 Jan 8 doi: 10.1007/s00415-022-10960-z. PMID: 34999962Free PMC Article

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