Results 1 to 10 of about 2,303 (135)

Exogenous Flupirtine as Potential Treatment for CLN3 Disease [PDF]

Cells, 2020
CLN3 disease is a fatal neurodegenerative disorder affecting children. Hallmarks include brain atrophy, accelerated neuronal apoptosis, and ceramide elevation.
Katia Maalouf, Joelle Makoukji, Sara Saab, Nadine J. Makhoul, Angelica V. Carmona, Nihar Kinarivala, Noël Ghanem, Paul C. Trippier, Rose-Mary Boustany   +8 more
doaj   +8 more sources

A timeline of symptom onset and disease progression in CLN3 disease [PDF]

Orphanet Journal of Rare Diseases
Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in early adulthood ...
Ineka T. Whiteman, Anthony L. Cook, Erika F. Augustine, Aidan D. Bindoff, Alexandra M. Johnson, Heather L. Mason, Jonathan W. Mink, John R. Østergaard, Angela Schulz, Jennifer Vermilion, Amy Vierhile, Heather R. Adams   +11 more
doaj   +5 more sources

Gene therapy ameliorates neuromuscular pathology in CLN3 disease [PDF]

Acta Neuropathologica Communications
CLN3 disease is a neuronopathic lysosomal storage disorder that severely impacts the central nervous system (CNS) while also inducing notable peripheral neuromuscular symptoms.
Ewa A. Ziółkowska, Albina Jablonka-Shariff, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Matthew D. Wood, Daniel A. Hunter, Jaiprakash Sharma, Marco Sardiello, Robyn Reese, Alan Pestronk, Mark S. Sands, Alison K. Snyder-Warwick, Jonathan D. Cooper   +14 more
doaj   +4 more sources

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation [PDF]

Acta Ophthalmologica, 2021
AbstractPurposeTo help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early‐onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation.MethodsMedical chart review of 38 children who were ...
Willemijn F E Kuper, Jan Willem R Pott, Barbara C H Huijgen   +2 more
exaly   +6 more sources

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity [PDF]

JIMD Reports, 2020
Background The CLN3 disease spectrum ranges from a childhood‐onset neurodegenerative disorder to a retina‐only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularly when novel ...
Willemijn F. E. Kuper, Marlies Oostendorp, Brigitte T. A. van den Broek, Karin van Veghel, Lourens J. P. Nonkes, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Tineke Veenendaal, Judith Klumperman, Albert Huisman, Stefan Nierkens, Peter M. van Hasselt   +11 more
doaj   +5 more sources

CLN3 disease disrupts very early postnatal hippocampal maturation [PDF]

Scientific Reports
CLN3 disease or juvenile neuronal ceroid lipofuscinosis (Batten disease), is a progressive, severe, neurodegenerative, lysosomal storage disorder. Previous studies have demonstrated that network-level excitability differences are present in mouse models ...
Jeet B. Singh, Devin M. Burris, Sangeetha Bhuyan, Tegan Thurston, Anna Oschmann, Connor Jankowski, Wenyun Lu, Joshua D. Rabinowitz, Rebecca C. Ahrens-Nicklas   +8 more
doaj   +4 more sources

Recognition and epileptology of protracted CLN3 disease. [PDF]

Epilepsia, 2023
AbstractObjectiveThis study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder.MethodsWe analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease.
Cameron JM, Damiano JA, Grinton B, Carney PW, McKelvie P, Silbert P, Lawn N, Scheffer IE, Oliver KL, Hildebrand MS, Berkovic SF.   +10 more
europepmc   +4 more sources

A diagnostic confidence scheme for CLN3 disease. [PDF]

J Inherit Metab Dis, 2021
AbstractOver the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long‐term natural history studies. Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major ...
Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW.   +8 more
europepmc   +3 more sources

Brain proton MR spectroscopy measurements in CLN3 disease. [PDF]

Mol Genet Metab, 2023
CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4-6 years of age involving vision loss, followed by developmental regression and seizures. Symptoms are progressive and result in premature death.
Dang Do AN, Baker EH, Farmer CA, Soldatos AG, Thurm AE, Porter FD.   +5 more
europepmc   +3 more sources

Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice [PDF]

Acta Neuropathologica Communications
Severe gastrointestinal (GI) symptoms occur in people with CLN3 disease, a neurodegenerative disorder. If left untreated these GI symptoms compromise life quality and may contribute to death.
Ewa A. Ziółkowska, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Jaiprakash Sharma, Marco Sardiello, Rebecca P. Bradley, Ineka T. Whiteman, Mark S. Sands, Robert O. Heuckeroth, Jonathan D. Cooper   +11 more
doaj   +2 more sources