Research & Literature

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

Akman HO, Kakhlon O, Coku J, et al.

JAMA neurology 2015; (72(4)):441-5 doi:10.1001/jamaneurol.2014.4496.

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

Colombo I, Pagliarani S, Testolin S, et al.

Neuromuscular disorders : NMD 2015; (25(5)):423-8.

Frequent misdiagnosis of adult polyglucosan body disease.

Hellmann MA, Kakhlon O, Landau EH, et al.

Journal of neurology 2015; (262(10)):2346-51 doi:10.1007/s00415-015-7859-4.

Evaluation and Management of Neurogenic Bladder: What Is New in China?

Liao L

International journal of molecular sciences 2015; (16(8)):18580-600 doi:10.3390/ijms160818580.

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Orhan Akman H, Emmanuele V, Kurt YG, et al.

Human molecular genetics 2015; (24(23)):6801-10 doi:10.1093/hmg/ddv385.

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.

Naddaf E, Kassardjian CD, Kurt YG, et al.

Muscle & nerve 2016; (53(6)):976-81 doi:10.1002/mus.25041.

Spasticity in multiple sclerosis: Contribution of inflammation, autoimmune mediated neuronal damage and therapeutic interventions.

Patejdl R, Zettl UK

Autoimmunity reviews 2017; (16(9)):925-936 doi:10.1016/j.autrev.2017.07.004.

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

Schiffmann R, Wallace ME, Rinaldi D, et al.

Journal of inherited metabolic disease 2018; (41(5)):877-883 doi:10.1007/s10545-017-0103-x.

The Management of Lower Urinary Tract Dysfunction in Multiple Sclerosis.

Tornic J, Panicker JN

Current neurology and neuroscience reports 2018; (18(8)):54 doi:10.1007/s11910-018-0857-z.

Expanded teased nerve fibre pathological conditions in disease association.

Xu M, Pinto M, Sun C, et al.

Journal of neurology, neurosurgery, and psychiatry 2019; (90(2)):138-140 doi:10.1136/jnnp-2018-319077.

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease.

De Amicis R, Leone A, Ravasenghi S, et al.

Journal of the American College of Nutrition 2020; (39(6)):557-562 doi:10.1080/07315724.2019.1695233.

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

Chown EE, Wang P, Zhao X, et al.

Annals of clinical and translational neurology 2020; (7(11)):2186-2198 doi:10.1002/acn3.51211.

Adult polyglucosan body disease - Management and evolution in an intensive rehabilitation program.

Carneiro I, Rodrigues M, Costa AJ, et al.

Rehabilitacion 2021; (55(2)):161-163 doi:10.1016/j.rh.2020.06.009.

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS, Badia BML, Farias IB, et al.

Journal of inherited metabolic disease 2021; (44(3)):534-543 doi:10.1002/jimd.12325.

Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

Johal J, Castro Apolo R, Johnson MW, et al.

Hospital practice (1995) 2022; (50(3)):244-250 doi:10.1080/21548331.2021.1874182.

The risk of polypharmacy, comorbidities and drug-drug interactions in women of childbearing age with multiple sclerosis.

Frahm N, Hecker M, Langhorst SE, et al.

Therapeutic advances in neurological disorders 2020; (13()):1756286420969501 doi:10.1177/1756286420969501.

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

Carvalho A, Nunes J, Taipa R, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(7)):2955-2959 doi:10.1007/s10072-021-05096-3.

Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Gumusgoz E, Guisso DR, Kasiri S, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2021; (18(2)):1414-1425 doi:10.1007/s13311-021-01040-7.

Perspectives on urological care in multiple sclerosis patients.

Moussa M, Abou Chakra M, Papatsoris AG, et al.

Intractable & rare diseases research 2021; (10(2)):62-74 doi:10.5582/irdr.2021.01029.

Characterization of cognitive impairment in adult polyglucosan body disease.

Zebhauser PT, Cordts I, Hengel H, et al.

Journal of neurology 2022; (269(6)):2854-2861 doi:10.1007/s00415-022-10960-z.

The Challenges of Real-life Bladder Diary Use and Interpretation.

Perrouin-Verbe MA, Drake MJ, Thomas L

European urology focus 2022; (8(1)):11-17 doi:10.1016/j.euf.2022.01.002.

A Comparison of Caregiver Burden for Different Types of Dementia: An 18-Month Retrospective Cohort Study.

Huang WC, Chang MC, Wang WF, Jhang KM

Frontiers in psychology 2021; (12()):798315 doi:10.3389/fpsyg.2021.798315.

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Gumusgoz E, Kasiri S, Guisso DR, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2022; (19(3)):982-993 doi:10.1007/s13311-022-01218-7.

Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.

Uemura MT, Suh ER, Robinson JL, et al.

Neuropathology and applied neurobiology 2023; (49(1)):e12865 doi:10.1111/nan.12865.

Distinct features in adult polyglucosan body disease: a case series.

De Winter J, Cypers G, Jacobs E, et al.

Neuromuscular disorders : NMD 2023; (33(2)):148-152 doi:10.1016/j.nmd.2022.12.016.

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, et al.

Molecular genetics and metabolism 2023; (138(3)):107525 doi:10.1016/j.ymgme.2023.107525.

Dynamic analysis of the individual patterns of intakes, voids, and bladder sensations reported in bladder diaries collected in the LURN study.

Andreev VP, Helmuth ME, Smith AR, et al.

PloS one 2023; (18(11)):e0284544 doi:10.1371/journal.pone.0284544.

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.

Gayed MM, Sgobbi P, Pinto WBVR, et al.

Frontiers in genetics 2023; (14()):1282790 doi:10.3389/fgene.2023.1282790.

A United States-based patient-reported adult polyglucosan body disease registry: initial results.

Sparks J, Michelassi F, Thompson JLP, et al.

Therapeutic advances in rare disease 2024; (5()):26330040241227452 doi:10.1177/26330040241227452.

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Wilson GE, Goldman DS, Saxe H, et al.

Journal of the neurological sciences 2024; (464()):123168 doi:10.1016/j.jns.2024.123168.

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Dugue AG, Abreu NJ, Pillai C, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2025; (45(1)):55-62 doi:10.1097/WNO.0000000000002186.

Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.

Caiza-Zambrano F, Aldecoa M, Rugilo C, et al.

Practical neurology 2025; (25(4)):366-369 doi:10.1136/pn-2024-004429.

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.

Thomas R, Miyoshi E, Akman HO, et al.

Nucleic acids research 2025; (53(13)) doi:10.1093/nar/gkaf658.

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.

Koch RL, Akman HO, Chown E, et al.

JIMD reports 2026; (67(3)):e70080 doi:10.1002/jmd2.70080.

Robot-Assisted Gait Training in a Patient with Adult Polyglucosan Body Disease: A Case Report.

Shin S, Yoo J, Oh D, et al.

Journal of clinical medicine 2026; (15(13)) doi:10.3390/jcm15134996.