المساهمون: Adeline Vanderver, MD, Program Director, Leukodystrophy Center

المصدر: LeukoSEQ: Whole Genome Sequencing As a First-Line Diagnostic Tool for Leukodystrophies
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Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.
Richards J, Korgenski EK, Srivastava R, Bonkowsky JL. Costs of the diagnostic odyssey in children with inherited leukodystrophies. Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.
Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
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Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.
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Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9.

المؤلفون: University of Massachusetts, Worcester, Massachusetts General Hospital

المساهمون: Terence Flotte, Dean

المصدر: A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

المصدر: A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway
Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM. GM1 Gangliosidosis-A Mini-Review. Front Genet. 2021 Sep 3;12:734878. doi: 10.3389/fgene.2021.734878. eCollection 2021.

المؤلفون: National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), National Center for Advancing Translational Sciences (NCATS), Biogen, Eli Lilly and Company, Myrtelle Inc., Orchard Therapeutics Ltd., Passage Bio, Inc., Synaptix Biotherapeutics Ltd., Takeda, Boehringer Ingelheim, Ionis Pharmaceuticals, Inc., Sanofi Winthrop Industrie, Sana Biotechnology, Yaya Foundation for 4H Leukodystrophy, University of Pennsylvania, United MSD Foundation, Foundation to Fight H-ABC, Calliope Joy Foundation, Don't Forget Me Foundation

المساهمون: Adeline Vanderver, MD, Program Director, Leukodystrophy Center

المصدر: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20.

المساهمون: Terence Flotte, Professor and Dean

المصدر: Long-Term Follow-Up of A Two-Stage Dose-Escalation Study to Evaluate the Safety and Efficacy of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Admin of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

المساهمون: Joanne Kurtzberg, MD, Professor of Pediatrics

المصدر: Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases with Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells

المؤلفون: Raha, Sumita¹, Paidi, Ramesh K.¹, Dutta, Debashis¹, Pahan, Kalipada^1,2 Kalipada_Pahan@rush.edu

المصدر: NeuroImmune Pharmacology & Therapeutics. Mar2024, Vol. 3 Issue 1, p17-32. 16p.

مصطلحات موضوعية: *TAY-Sachs disease, *SANDHOFF disease, *AUTOSOMAL recessive polycystic kidney, *FATTY acids, *INFLAMMATION

المساهمون: Florian Eichler, Director of the Center for Rare Neurological Diseases

المصدر: A Natural History of Late Onset Tay-Sachs Disease: MGH Site

المؤلفون: Mashhad University of Medical Sciences, Kashan University of Medical Sciences

المساهمون: Tavasoli, Principal investigator

المصدر: Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
Villamizar-Schiller IT, Pabon LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE. Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease. Eur J Med Genet. 2015 Mar;58(3):180-3. doi: 10.1016/j.ejmg.2014.12.009. Epub 2014 Dec 12.
Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S355-61. doi: 10.1007/s10545-010-9186-3. Epub 2010 Sep 4.
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.
Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4.
Tallaksen CM, Berg JE. Miglustat therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S289-93. doi: 10.1007/s10545-009-1224-7. Epub 2009 Nov 4.
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de.
Jacobs JF, Willemsen MA, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. 2005 Nov;36(10):925-6. doi: 10.1038/sj.bmt.1705155. No abstract available.
Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, Proia RL, Perry VH, Dwek RA, Platt FM. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood. 2001 Jan 1;97(1):327-9. doi: 10.1182/blood.v97.1.327.

المساهمون: Deepa Soundara Rajan, Associate Professor

المصدر: Longitudinal Study of Neurodegenerative Disorders

المؤلفون: Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Lysosomal Disease Network

المصدر: A Natural History Study of the Gangliosidoses
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Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA. 1993 Nov 17;270(19):2307-15.
Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb;7(2):119-23. doi: 10.1097/01.gim.0000154300.84107.75.
MacQueen GM, Rosebush PI, Mazurek MF. Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci. 1998 Winter;10(1):10-9. doi: 10.1176/jnp.10.1.10.
Frey LC, Ringel SP, Filley CM. The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. Arch Neurol. 2005 Jun;62(6):989-94. doi: 10.1001/archneur.62.6.989.
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Zaroff CM, Neudorfer O, Morrison C, Pastores GM, Rubin H, Kolodny EH. Neuropsychological assessment of patients with late onset GM2 gangliosidosis. Neurology. 2004 Jun 22;62(12):2283-6. doi: 10.1212/01.wnl.0000130498.19019.02.
Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB. Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
Nestrasil I, Ahmed A, Utz JM, Rudser K, Whitley CB, Jarnes-Utz JR. Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Mol Genet Metab. 2018 Feb;123(2):97-104. doi: 10.1016/j.ymgme.2017.12.432. Epub 2017 Dec 20.

المؤلفون: Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii

المصدر: Вопросы современной педиатрии, Vol 23, Iss 4, Pp 247-251 (2024)

مصطلحات موضوعية: gm2 gangliosidosis, tay-sachs disease, orphan diseases, autosomal recessive inheritance, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3569; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

URL الوصول: https://doaj.org/article/73097d122f544487adf1ad3417b0a8dd

المؤلفون: Lorenzo Vivas, Erica

المساهمون: University/Department: Universitat de Barcelona. Facultat de Biologia

Thesis Advisors: erika.lorenzo@gmail.com, Tiscornia, Gustavo, Saló i Boix, Emili

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Cèl·lules mare, Células madre, Stem cells, Malaltia de Gaucher, Enfermedad de Gaucher, Gaucher's disease, Malalties neurodegeneratives, Enfermedades neurodegenerativas, Neurodegenerative Diseases, Enfermedad de Tay-Sachs, Malaltia de Tay-Sachs, Tay–Sachs disease, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/128928

المصدر: Randomized, Double Blind, Placebo Controlled, Multicenter, 12 Weeks Phase 2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease

المصدر: Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study
Churchill GC, Strupp M, Factor C, Bremova-Ertl T, Factor M, Patterson MC, Platt FM, Galione A. Acetylation turns leucine into a drug by membrane transporter switching. Sci Rep. 2021 Aug 4;11(1):15812. doi: 10.1038/s41598-021-95255-5.
Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials. 2021 Jan 22;22(1):84. doi: 10.1186/s13063-020-05009-3.

المؤلفون: Sicchieri, Juliana Maria Faccioli¹ (AUTHOR) jmfsicchieri@hcrp.usp.br, Gracia, Beatriz Miranda Campos² (AUTHOR), Schiavoni, Isabela Laurencio¹ (AUTHOR), Pagano, Ana Paula^3,4 (AUTHOR), Navarro, Anderson Marliere³ (AUTHOR)

المصدر: Journal of the Academy of Nutrition & Dietetics. Jun2023, Vol. 123 Issue 6, p871-875. 5p.

مصطلحات موضوعية: *TAY-Sachs disease, *NUTRITIONAL assessment, *DELAYED onset of disease, *DIET therapy

Alternate Title: Tay-Sachs Hastalığı Olan Türkiye'den Dokuz Olgunun Klinik ve Moleküler Bulguları.

المؤلفون: Aslanger, Ayça Dilruba¹ aaslanger@yahoo.com, Güleç, Çağrı¹, Kalaycı, Tuğba¹, Şengenç, Esma², Avcı, Şahin¹, Altunoğlu, Umut¹, Karaman, Volkan¹, Toksoy, Güven¹, Karaca, Meryem¹, İşcan, Akın², Gökçay, Gülden³, Yeşil, Gözde¹, Uyguner, Oya¹

المصدر: Medical Journal of Bakirkoy. Jun2023, Vol. 19 Issue 2, p222-228. 7p.

مصطلحات موضوعية: *TAY-Sachs disease, *NEWBORN screening, *GENETIC mutation, *SEQUENCE analysis, *MOLECULAR pathology, *GENETIC testing, *CASE studies, *GENES, *GLYCOSIDASES, *EARLY diagnosis, *SYMPTOMS

مصطلحات جغرافية: TURKEY

المؤلفون: Joshua E. Hung, Reid A. Brewer, Lujaina Elbakr, Antonio Mollica, Georgiana Forguson, Wing Suen Chan, Evgueni A. Ivakine

المصدر: Molecular Therapy: Nucleic Acids, Vol 36, Iss 1, Pp 102401- (2025)

مصطلحات موضوعية: MT: RNA/DNA Editing, HEXA, Tay-Sachs disease, mutation correction, CRISPR-Cas9 therapeutic editing, frame correction therapy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253124002889; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/d0c804c7fb3640f899b3fc8ebb7b0719

المصدر: Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis

المؤلفون: Alina Bilyalova, Elena Shagimardanova, Airat Bilyalov, Marina Zaripova, Leyla Shigapova, Guzel Gazizova, Pavel Mazin, Bukina Tatiana, Oleg Gusev

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: Tay-Sachs disease, hexA gene, next-generation sequencing, neurology, RNA, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1400989/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/17f82b761ae244f797dd3a8257f9f58d