Research & Literature

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Sheth J, Datar C, Mistri M, et al.

BMC pediatrics 2016; (16()):88 doi:10.1186/s12887-016-0626-6.

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

Martins C, Brunel-Guitton C, Lortie A, et al.

Molecular genetics and metabolism reports 2017; (11()):24-29 doi:10.1016/j.ymgmr.2017.01.017.

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

Udwadia-Hegde A, Hajirnis O

Child neurology open 2017; (4()):2329048X16687887 doi:10.1177/2329048X16687887.

Late-onset Tay-Sachs disease.

Barritt AW, Anderson SJ, Leigh PN, Ridha BH

Practical neurology 2017; (17(5)):396-399 doi:10.1136/practneurol-2017-001665.

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.

Olkhovych NV, Gorovenko NG

Ukrainian biochemical journal 2016; (88(5)):96-106 doi:10.15407/ubj88.05.096.

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene.

Sung AR, Moretti P, Shaibani A

Neurology. Genetics 2018; (4(4)):e260 doi:10.1212/NXG.0000000000000260.

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Tavasoli AR, Parvaneh N, Ashrafi MR, et al.

Orphanet journal of rare diseases 2018; (13(1)):130 doi:10.1186/s13023-018-0876-5.

Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly.

Shapira Zaltsberg G, McMillan HJ, Miller E

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020; (33(6)):1033-1035 doi:10.1080/14767058.2018.1514375.

Neurite atrophy and apoptosis mediated by PERK signaling after accumulation of GM2-ganglioside.

Virgolini MJ, Feliziani C, Cambiasso MJ, et al.

Biochimica et biophysica acta. Molecular cell research 2019; (1866(2)):225-239 doi:10.1016/j.bbamcr.2018.10.014.

Prenatal Diagnosis of Tay-Sachs Disease.

Zhang J, Chen H, Kornreich R, Yu C

Methods in molecular biology (Clifton, N.J.) 2019; (1885()):233-250 doi:10.1007/978-1-4939-8889-1_16.

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Jahnová H, Poupětová H, Jirečková J, et al.

Journal of neurology 2019; (266(8)):1953-1959 doi:10.1007/s00415-019-09364-3.

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Cecchi AC, Vengoechea ES, Kaseniit KE, et al.

Molecular genetics & genomic medicine 2019; (7(8)):e836 doi:10.1002/mgg3.836.

Natural History of Adult Patients with GM2 Gangliosidosis.

Masingue M, Dufour L, Lenglet T, et al.

Annals of neurology 2020; (87(4)):609-617 doi:10.1002/ana.25689.

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.

Sun D, Liu Z, Liu Y, et al.

BMC medical genetics 2020; (21(1)):149 doi:10.1186/s12881-020-01083-1.

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease.

Demir SA, Timur ZK, Ateş N, et al.

Journal of neuroinflammation 2020; (17(1)):277 doi:10.1186/s12974-020-01947-6.

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind.

Cox TM

Frontiers in molecular biosciences 2020; (7()):177 doi:10.3389/fmolb.2020.00177.

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Bibi F, Ullah A, Bourinaris T, et al.

Klinische Padiatrie 2021; (233(5)):226-230 doi:10.1055/a-1371-1561.

[Rehabilitation in Tay-Sachs disease: A case report].

Mohamed Fathy Kamal O, Monleón Llorente L, Garvin Ocampos L

Rehabilitacion 2022; (56(2)):164-167 doi:10.1016/j.rh.2020.10.010.

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Toro C, Zainab M, Tifft CJ

Neuroscience letters 2021; (764()):136195 doi:10.1016/j.neulet.2021.136195.

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.

Májovská J, Hennig A, Nestrasil I, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(5)):3273-3281 doi:10.1007/s10072-021-05757-3.

AAV gene therapy for Tay-Sachs disease.

Flotte TR, Cataltepe O, Puri A, et al.

Nature medicine 2022; (28(2)):251-259 doi:10.1038/s41591-021-01664-4.

[Progressive psychomotor regression for 2.5 years in a boy aged 5 years].

Tian MQ, Chen XX, Li L, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2022; (24(6)):699-704 doi:10.7499/j.issn.1008-8830.2201048.

Therapeutic Strategies For Tay-Sachs Disease.

Picache JA, Zheng W, Chen CZ

Frontiers in pharmacology 2022; (13()):906647 doi:10.3389/fphar.2022.906647.

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Martakis K, Claassen J, Gascon-Bayari J, et al.

Neurology 2023; (100(10)):e1072-e1083 doi:10.1212/WNL.0000000000201660.

Nutrition Assessment and Management of Late-Onset Tay-Sachs Disease: A Clinical Case Report.

Sicchieri JMF, Gracia BMC, Schiavoni IL, et al.

Journal of the Academy of Nutrition and Dietetics 2023; (123(6)):871-875 doi:10.1016/j.jand.2022.12.006.

Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.

Andrews A, Roberts S, Botto LD

Molecular genetics and metabolism reports 2022; (33(Suppl 1)):100891 doi:10.1016/j.ymgmr.2022.100891.

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

Xie H, Lin S, Chen Y, et al.

Medicine 2023; (102(24)):e33890 doi:10.1097/MD.0000000000033890.

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

Fullam S, Togher Z, Power A, et al.

European journal of neurology 2024; (31(1)):e16069 doi:10.1111/ene.16069.

The diagnostic journey for patients with late-onset GM2 Gangliosidoses.

Lopshire MC, Tifft C, Burns J, et al.

Molecular genetics and metabolism reports 2023; (37()):101014 doi:10.1016/j.ymgmr.2023.101014.

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease.

Grezenko H, Al-Deir SS, Eshete FD, et al.

Cureus 2024; (16(1)):e51797 doi:10.7759/cureus.51797.

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.

A Case of Hyperammonemia Not Attributable to Liver Disease and Treated With IV Ammonia Scavengers.

Thomas J, George A, Mrittika S, et al.

Cureus 2024; (16(11)):e74028 doi:10.7759/cureus.74028.

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.

Moroto M, Daisuke U, Yodoi T, et al.

Human genome variation 2024; (11(1)):43 doi:10.1038/s41439-024-00300-0.

Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.

Llorin H, Tennen R, Laskey S, et al.

Genetics in medicine open 2024; (2()):101869 doi:10.1016/j.gimo.2024.101869.

Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.

Ducatez F, Mauhin W, Ottaviani J, et al.

Journal of clinical laboratory analysis 2025; (39(1)):e25131 doi:10.1002/jcla.25131.

Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Tupil AR, Rivlin W, Mccombe PA, et al.

Neurology. Genetics 2024; (10(6)):e200205 doi:10.1212/NXG.0000000000200205.

Imbalance in redox homeostasis is associated with neurodegeneration in the murine model of Tay-Sachs disease.

Basırlı H, Ateş N, Seyrantepe V

Molecular biology reports 2025; (52(1)):282 doi:10.1007/s11033-025-10380-y.

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.

Schiffmann R

Journal of inherited metabolic disease 2025; (48(3)):e70034 doi:10.1002/jimd.70034.

Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.

Lewis CJ, Chipman SI, Johnston JM, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.04.08.25325262.

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.

Yoldaş Çelik M, Köşeci B, Burgaç E, Yararbaş K

Molecular genetics and metabolism reports 2025; (43()):101225 doi:10.1016/j.ymgmr.2025.101225.

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.

González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM

Neurology international 2025; (17(7)) doi:10.3390/neurolint17070098.

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.

Eichler F, Cataltepe OI, Daci R, et al.

Nature medicine 2025; (31(9)):2927-2935 doi:10.1038/s41591-025-03822-4.

Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening.

Abousy M, Hucko L, Berrocal A, Saenz EV

American journal of ophthalmology case reports 2025; (39()):102381 doi:10.1016/j.ajoc.2025.102381.

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.

Urizar E, McCarron EP, Gadepalli C, et al.

Genes 2025; (16(8)) doi:10.3390/genes16080915.

Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.

Taghian T, Gallagher J, Bertrand S, et al.

The Journal of clinical investigation 2025; (135(23)).

Mass spectrometric profiling reveals alterations in N-Glycans and O-Glycans in Tay-Sachs disease under Autophagy-Induced conditions.

Can M, Basirli H, Jin C, et al.

Glycoconjugate journal 2025; (43(1)):3 doi:10.1007/s10719-025-10203-z.

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.

Teresi L, Trimarchi G, Licordari R, et al.

Biomedicines 2025; (13(12)) doi:10.3390/biomedicines13123062.