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First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy

James Wawrzynski, Ana Rodriguez Martinez, Dorothy Ann Thompson, Dipak Ram, Richard Bowman, Rebecca Whiteley, Chin Gan, Louise Harding, Amanda Mortensen, Philippa Mills, Paul Gissen, Robert H. Henderson

Eye (Lond) 2024 Apr; 38(6): 1176–1182. Published online 2023 Dec 4. doi: 10.1038/s41433-023-02859-4

PMCID:: PMC11009280

Article PDF–2.0M

Select item 108050852.

Revoking the Seize Order: Preventing Spontaneous Seizures With AAV in a CLN2 Mouse Model

Gordon F. Buchanan

Epilepsy Curr. 2023 Nov-Dec; 23(6): 386–388. Published online 2023 Oct 9. doi: 10.1177/15357597231200702

PMCID:: PMC10805085

Article PDF–562K

Select item 106430213.

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

Miriam Nickel, Paul Gissen, Rebecca Greenaway, Simona Cappelletti, Christiane Hamborg, Benedetta Ragni, Tanja Ribitzki, Angela Schulz, Ilaria Tondo, Nicola Specchio

Neuropediatrics. 2023 Dec; 54(6): 402–406. Published online 2023 Jun 17. doi: 10.1055/s-0043-1770143

PMCID:: PMC10643021

Article PDF–143K

Select item 106280984.

Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2^R207X mice, a model of late infantile Batten disease

Attila D. Kovács, Jose L. Gonzalez Hernandez, David A. Pearce

Sci Rep. 2023; 13: 19229. Published online 2023 Nov 6. doi: 10.1038/s41598-023-46283-w

PMCID:: PMC10628098

Article PDF–1.9M

Select item 101047575.

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

Leticia Pereira de Brito Sampaio, Maria Luiza Giraldes de Manreza, André Pessoa, Juliana Gurgel-Giannetti, Ana Carolina Coan, Hélio van der Linden Júnior, Emília Katiane Embiruçu, Adélia Maria de Miranda Henriques-Souza, Fernando Kok

Arq Neuropsiquiatr. 2023 Mar; 81(3): 284–295. Published online 2023 Apr 14. doi: 10.1055/s-0043-1761434

PMCID:: PMC10104757

Article PDF–1.4M

Select item 100604116.

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model

Kevin Knoernschild, Hans J. Johnson, Kimberly E. Schroeder, Vicki J. Swier, Katherine A. White, Takashi S. Sato, Christopher S. Rogers, Jill M. Weimer, Jessica C. Sieren

Sci Rep. 2023; 13: 5146. Published online 2023 Mar 29. doi: 10.1038/s41598-023-32071-z

PMCID:: PMC10060411

Article PDF–2.4M

Select item 99546237.

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2

Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams, Paul Gissen

Brain Sci. 2023 Feb; 13(2): 209. Published online 2023 Jan 27. doi: 10.3390/brainsci13020209

PMCID:: PMC9954623

Article PDF–2.0M

Select item 97230248.

A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes

Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Jessica C. Sieren, Hans J. Johnson, Kevin Knoernschild, Xiaojun Wang, Frank A. Rohret, Christopher S. Rogers, David A. Pearce, Jon J. Brudvig, Jill M. Weimer

Neurotherapeutics. 2022 Oct; 19(6): 1905–1919. Published online 2022 Sep 13. doi: 10.1007/s13311-022-01296-7

PMCID:: PMC9723024

Article PDF–5.0M

Select item 95818109.

Visual perception and macular integrity in non-classical CLN2 disease

Yevgeniya Atiskova, Jan Wildner, Eva Wibbeler, Miriam Nickel, Martin Stephan Spitzer, Christoph Schwering, Angela Schulz, Simon Dulz

Graefes Arch Clin Exp Ophthalmol. 2022; 260(11): 3693–3700. Published online 2022 Jun 2. doi: 10.1007/s00417-022-05662-1

PMCID:: PMC9581810

Article PDF–695K

Select item 947108710.

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

Sui-Bing Miao, Hui Guo, De-Xian Kong, Yuan-Yuan Zhao, Shu-Hong Pan, Yan Jiang, Xing Gao, Xiao-Hua Wu

Front Genet. 2022; 13: 937485. Published online 2022 Aug 31. doi: 10.3389/fgene.2022.937485

PMCID:: PMC9471087

Article PDF–1.3M

Select item 933930211.

G1-Cyclin2 (Cln2) promotes chromosome hypercondensation in eco1/ctf7 rad61 null cells during hyperthermic stress in Saccharomyces cerevisiae

Sean Buskirk, Robert V Skibbens

G3 (Bethesda) 2022 Aug; 12(8): jkac157. Published online 2022 Jun 23. doi: 10.1093/g3journal/jkac157

PMCID:: PMC9339302

Article PDF–1.1M

Select item 917359312.

Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Li Ma, Adriana M. Prada, Michael Schmidt, Eric M. Morrow

Stem Cell Res. Author manuscript; available in PMC 2022 Jun 7.

Published in final edited form as: Stem Cell Res. 2021 May; 53: 102323. Published online 2021 Apr 6. doi: 10.1016/j.scr.2021.102323

PMCID:: PMC9173593

Article PDF–1.1M

Select item 886108113.

Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

Miriam Nickel, Angela Schulz

Front Neurol. 2022; 13: 785841. Published online 2022 Feb 8. doi: 10.3389/fneur.2022.785841

PMCID:: PMC8861081

Article PDF–194K

Select item 877749514.

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

Katharina Iwan, Nina Patel, Amanda Heslegrave, Mina Borisova, Laura Lee, Rebecca Bower, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Kevin Mills, Paul Gissen, Wendy E. Heywood

Version 2. F1000Res. 2021; 10: 614. Published online 2022 Jan 5. doi: 10.12688/f1000research.54556.2

PMCID:: PMC8777495

Article PDF–534K

Select item 876752915.

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Amanda Mortensen, Eva M. Raebel, Samantha Wiseman

Orphanet J Rare Dis. 2022; 17: 19. Published online 2022 Jan 19. doi: 10.1186/s13023-021-02147-y

PMCID:: PMC8767529

Article PDF–1.0M

Select item 861653416.

Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis

Antje Banning, Ritva Tikkanen

Cells. 2021 Nov; 10(11): 2813. Published online 2021 Oct 20. doi: 10.3390/cells10112813

PMCID:: PMC8616534

Article PDF–7.6M

Select item 840968117.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

Kimberly Gall, Emanuela Izzo, Eija H. Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo

PLoS One. 2021; 16(9): e0255933. Published online 2021 Sep 1. doi: 10.1371/journal.pone.0255933

PMCID:: PMC8409681

Article PDF–672K

Select item 837709418.

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy

Dorothy A. Thompson, Siân E. Handley, Robert H. Henderson, Oliver R. Marmoy, Paul Gissen

Eye (Lond) 2021 Sep; 35(9): 2438–2448. Published online 2021 Jul 16. doi: 10.1038/s41433-021-01594-y

Correction in:: Eye (Lond). 2021 Oct; 35(10): 2912.

PMCID:: PMC8377094

Article PDF–1.4M

Select item 832271619.

Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy

Kyle D. Kovacs, Anton Orlin, Dolan Sondhi, Stephen M. Kaminsky, Donald J. D'Amico, Ronald G. Crystal, Szilárd Kiss

Transl Vis Sci Technol. 2021 Jul; 10(8): 23. Published online 2021 Jul 27. doi: 10.1167/tvst.10.8.23

PMCID:: PMC8322716

Article PDF–952K

Select item 825550520.

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Christoph Schwering, Gertrud Kammler, Eva Wibbeler, Martin Christner, Johannes K.-M. Knobloch, Miriam Nickel, Jonas Denecke, Michael Baehr, Angela Schulz

J Child Neurol. 2021 Jul; 36(8): 635–641. Published online 2021 Feb 5. doi: 10.1177/0883073821989154