Results 21 to 30 of about 2,358 (151)

Timing of cognitive decline in CLN3 disease. [PDF]

J Inherit Metab Dis, 2018
AbstractBackgroundCLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease.MethodsEarly neurocognitive functioning
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM.   +5 more
europepmc   +6 more sources

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience. [PDF]

Child Care Health Dev, 2022
Krantz M, Malm E, Darin N, Sofou K, Savvidou A, Reilly C, Boström P.   +6 more
europepmc   +2 more sources

The CLN3 Disease Staging System: A new tool for clinical research in Batten disease. [PDF]

Neurology, 2020
To develop a disease-specific staging system for CLN3 disease and to test the hypothesis that salient and discrete clinical features of CLN3 disease may be used to define disease stages by analyzed data from an 18-year-long natural history study.A proposed staging system, the CLN3 Staging System (CLN3SS), was based on salient and clinically meaningful ...
Masten MC, Williams JD, Vermilion J, Adams HR, Vierhile A, Collins A, Marshall FJ, Augustine EF, Mink JW.   +8 more
europepmc   +4 more sources

Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals

Biomarker Insights, 2022
Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported,
Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer   +9 more
doaj   +1 more source

An iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening. [PDF]

ACS Pharmacol Transl Sci, 2020
Kinarivala N, Morsy A, Patel R, Carmona AV, Sajib MS, Raut S, Mikelis CM, Al-Ahmad A, Trippier PC.   +8 more
europepmc   +2 more sources

Impact of CLN3 Disease on Child Quality of Life and Family Function. [PDF]

Pediatr Neurol
CLN3 disease is a rare inherited neurodegenerative disease that typically starts in childhood. Given the progressive nature of the disease, it likely affects the health-related quality of life (HRQOL) of both the child and the family unit. In this study, we evaluated HRQOL and family function in individuals with CLN3 disease and their families.Data ...
Vermilion J, Augustine EF, Mink JW, McDermott MP, Vierhile A, Pereira-Freitas M, Adams HR.   +6 more
europepmc   +3 more sources

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids

Molecular Genetics & Genomic Medicine, 2021
Background Mutations in CLN3 cause Batten disease, however non‐syndromic CLN3 disease, characterized by retinal‐specific degeneration, has been also described.
Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan   +10 more
doaj   +1 more source

Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. [PDF]

PLoS ONE, 2013
Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene.
Amanda Getty, Attila D Kovács, Tímea Lengyel-Nelson, Andrew Cardillo, Caitlin Hof, Chun-Hung Chan, David A Pearce   +6 more
doaj   +1 more source

Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

Neurobiology of Disease, 2006
Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3−/−) mouse model of the disease exhibits many characteristic pathological features of the human disorder.
Attila D. Kovács, Jill M. Weimer, David A. Pearce   +2 more
doaj   +1 more source

Membrane topology of CLN3, the protein underlying Batten disease [PDF]

FEBS Letters, 2003
Juvenile neuronal ceroid lipofuscinosis, or Batten disease, is an autosomal recessive disorder characterized by progressive loss of motor and cognitive functions, loss of vision, progressively severe seizures, and death. The disease is associated with mutations in the gene CLN3, which encodes a novel 438 amino acid protein, the function of which is ...
Mao, Qinwen, Foster, Brian J, Xia, Haibin, Davidson, Beverly L   +3 more
openaire   +2 more sources