Research & Literature

Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.

Kannebley JS, Silveira-Moriyama L, Bastos LO, Steiner CE

JIMD reports 2015; (24()):115-22 doi:10.1007/8904_2015_451.

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Regier DS, Kwon HJ, Johnston J, et al.

American journal of medical genetics. Part A 2016; (170(3)):634-44 doi:10.1002/ajmg.a.37468.

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.

Ellsworth KA, Pollard LM, Cathey S, Wood T

JIMD reports 2017; (34()):11-18 doi:10.1007/8904_2016_1.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Regier DS, Proia RL, D'Azzo A, Tifft CJ

Pediatric endocrinology reviews : PER 2016; (13 Suppl 1()):663-73.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, et al.

Rapid communications in mass spectrometry : RCM 2017; (31(11)):951-963 doi:10.1002/rcm.7860.

Infantile gangliosidoses: Mapping a timeline of clinical changes.

Jarnes Utz JR, Kim S, King K, et al.

Molecular genetics and metabolism 2017; (121(2)):170-179 doi:10.1016/j.ymgme.2017.04.011.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Deodato F, Procopio E, Rampazzo A, et al.

Metabolic brain disease 2017; (32(5)):1529-1536 doi:10.1007/s11011-017-0044-y.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Myers KA, Bennett MF, Chow CW, et al.

American journal of medical genetics. Part A 2018; (176(1)):230-234 doi:10.1002/ajmg.a.38549.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS, Choi JM, Lee M, et al.

Brain & development 2018; (40(5)):383-390 doi:10.1016/j.braindev.2018.01.009.

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Richter JE, Zimmermann MT, Blackburn PR, et al.

Molecular genetics & genomic medicine 2018; (6(6)):1229-1235 doi:10.1002/mgg3.454.

[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].

Lan XR, Qiu JW, Li H, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(1)):71-76.

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Giugliani L, Steiner CE, Kim CA, et al.

JIMD reports 2019; (49(1)):96-106 doi:10.1002/jmd2.12067.

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Ferreira CR, Regier DS, Yoon R, et al.

Bone 2020; (131()):115142 doi:10.1016/j.bone.2019.115142.

Characterization of glycan substrates accumulating in GM1 Gangliosidosis.

Lawrence R, Van Vleet JL, Mangini L, et al.

Molecular genetics and metabolism reports 2019; (21()):100524 doi:10.1016/j.ymgmr.2019.100524.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

Arash-Kaps L, Komlosi K, Seegräber M, et al.

The Journal of pediatrics 2019; (215()):152-157.e3 doi:10.1016/j.jpeds.2019.08.016.

The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.

Lang FM, Korner P, Harnett M, et al.

Molecular genetics and metabolism 2020; (129(3)):228-235 doi:10.1016/j.ymgme.2019.12.012.

Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases.

Kara DÖ, Şahpaz A

The Turkish journal of pediatrics 2019; (61(6)):953-957.

An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.

Uchino A, Nagai M, Kanazawa N, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2020; (40(4)):379-388 doi:10.1111/neup.12651.

Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.

Su P, Khaledi H, Waggoner C, Gelb MH

Journal of inherited metabolic disease 2021; (44(1)):264-271 doi:10.1002/jimd.12269.

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Fischetto R, Palladino V, Mancardi MM, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1371 doi:10.1002/mgg3.1371.

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Mishra S, Pai P, Uttarilli A, Girisha KM

Clinical dysmorphology 2021; (30(1)):6-9 doi:10.1097/MCD.0000000000000353.

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

Yuskiv N, Higaki K, Stockler-Ipsiroglu S

International journal of molecular sciences 2020; (21(23)) doi:10.3390/ijms21239121.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Tebani A, Sudrié-Arnaud B, Dabaj I, et al.

Journal of medical genetics 2022; (59(4)):377-384 doi:10.1136/jmedgenet-2020-107510.

GM1 Gangliosidosis: Mechanisms and Management.

Rha AK, Maguire AS, Martin DR

The application of clinical genetics 2021; (14()):209-233 doi:10.2147/TACG.S206076.

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER, Annunziata I, d'Azzo A, et al.

Frontiers in genetics 2021; (12()):734878 doi:10.3389/fgene.2021.734878.

Late-infantile GM1 gangliosidosis: A case report.

Noh ES, Park HM, Kim MS, et al.

Medicine 2022; (101(1)):e28435 doi:10.1097/MD.0000000000028435.

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

Gowda VK, Gupta P, Bharathi NK, et al.

Journal of pediatric genetics 2022; (11(1)):34-41 doi:10.1055/s-0040-1718726.

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.

Welford RWD, Farine H, Steiner M, et al.

Molecular genetics and metabolism reports 2022; (30()):100843 doi:10.1016/j.ymgmr.2022.100843.

[Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis].

Cheng S, Wang Q, Chen A, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(5)):537-541 doi:10.3760/cma.j.cn511374-20210415-00332.

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Akar HT, Yıldız Y, Güvenkaya G, et al.

Balkan medical journal 2022; (39(5)):345-350 doi:10.4274/balkanmedj.galenos.2022.2022-3-75.

AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates.

Hocquemiller M, Giersch L, Mei X, et al.

Molecular therapy. Methods & clinical development 2022; (27()):281-292 doi:10.1016/j.omtm.2022.10.004.

Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.

Luckett A, Yousef M, Tifft C, et al.

American journal of medical genetics. Part A 2023; (191(3)):711-717 doi:10.1002/ajmg.a.63064.

GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.

Bingaman A, Waggoner C, Andrews SM, et al.

American journal of medical genetics. Part A 2023; (191(2)):408-423 doi:10.1002/ajmg.a.63038.

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

Laur D, Pichard S, Bekri S, et al.

Journal of inherited metabolic disease 2023; (46(5)):972-981 doi:10.1002/jimd.12646.

Congenital Heart Malformations Masked by Infantile Gangliosidosis-Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies.

Mîndru DE, Țarcă E, Braha EE, et al.

Diagnostics (Basel, Switzerland) 2024; (14(5)) doi:10.3390/diagnostics14050491.

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.

Karimzadeh P, Ebrahimi M, Etemad K, et al.

Iranian journal of child neurology 2024; (18(2)):127-140 doi:10.22037/ijcn.v18i2.40751.

GM1 gangliosidosis type II: Results of a 10-year prospective study.

D'Souza P, Farmer C, Johnston JM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(7)):101144 doi:10.1016/j.gim.2024.101144.

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis.

Quadrini KJ, Vrentas C, Duke C, et al.

Molecular therapy. Methods & clinical development 2024; (32(3)):101318 doi:10.1016/j.omtm.2024.101318.

Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cells.

Rha AK, Kan SH, Andrade-Heckman P, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108568 doi:10.1016/j.ymgme.2024.108568.

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.

Stern S, Crisamore K, Li RJ, et al.

Clinical and translational science 2025; (18(3)):e70176 doi:10.1111/cts.70176.

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.

Lewis CJ, Johnston JM, Zaragoza Domingo S, et al.

Orphanet journal of rare diseases 2025; (20(1)):125 doi:10.1186/s13023-025-03614-6.

Neuroimaging Spectrum of GM1 Gangliosidosis with Description of Novel Imaging Signs.

Coppola F, Prasad S, Morana G, et al.

AJNR. American journal of neuroradiology 2026; (47(2)):489-495 doi:10.3174/ajnr.A8973.

AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.

Lewis CJ, D'Souza P, Johnston JM, et al.

The New England journal of medicine 2026; (394(12)):1184-1194 doi:10.1056/NEJMoa2510935.

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.

Roy S, Arora C, Holla VV, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2026; (16()):9 doi:10.5334/tohm.1152.

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.

Kell P, Mishra S, D'Souza P, et al.

Molecular genetics and metabolism 2026; (148(3)):110159 doi:10.1016/j.ymgme.2026.110159.

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report.

Zhong G, Wang K, Liao K, et al.

Frontiers in pediatrics 2026; (14()):1839278 doi:10.3389/fped.2026.1839278.