Results 11 to 20 of about 2,625 (156)

Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease) [PDF]

Annals of the New York Academy of Sciences, 2016
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by the third decade.
Madhu M Ouseph, Mark E Kleinman, Qing Jun Wang   +2 more
exaly   +5 more sources

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights [PDF]

Degenerative Neurological and Neuromuscular Disease, 2016
The present review is focused on juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) due to a mutation in CLN3. Functional vision impairment occurring around 5-6 years of age is the first symptom in more than 80% of patients. Approximately 2 years later (though sometimes simultaneously), obvious signs of cognitive impairment appear. Behavior
John R Østergaard
exaly   +6 more sources

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis [PDF]

Neurobiology of Disease, 2008
Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz, Gary S. Johnson, Gregory E. Tullis, Bo Lei   +3 more
doaj   +3 more sources

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis [PDF]

Acta Neuropathologica Communications, 2019
The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused by recessive mutations affecting the CLN3
Gemma Gomez-Giro, Jonathan Arias-Fuenzalida, Javier Jarazo, Dagmar Zeuschner, Muhammad Ali, Nina Possemis, Silvia Bolognin, Rashi Halder, Christian Jäger, Willemijn F. E. Kuper, Peter M. van Hasselt, Holm Zaehres, Antonio del Sol, Herman van der Putten, Hans R. Schöler, Jens C. Schwamborn   +15 more
doaj   +2 more sources

Reversible synaptic deficits in early-stage batten disease [PDF]

Journal of Translational Medicine
Background Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani, Chloe M. Hall, Thomas Mittmann, Benedikt Grünewald, Jakob von Engelhardt   +4 more
doaj   +2 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   +2 more sources

Aberrant adhesion impacts early development in aDictyosteliummodel for juvenile neuronal ceroid lipofuscinosis [PDF]

Cell Adhesion and Migration, 2017
Robert J Huber, Michael A Myre, Susan L Cotman   +2 more
exaly   +2 more sources

OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS. [PDF]

Retin Cases Brief Rep, 2016
To report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis.Two case reports.Two 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness, and behavioral problems. Optical coherence tomography showed an overall reduction in thickness of the central retina, as well as ...
Hansen MS, Hove MN, Jensen H, Larsen M.
europepmc   +5 more sources

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]

Dev Med Child Neurol
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A, Pezzini F, Nardocci N, CLNet Consortium, Santorelli FM.   +4 more
europepmc   +2 more sources

Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin. [PDF]

Neuropathol Appl Neurobiol
ABSTRACT Proteomics of laser‐dissected lipofuscin from aged, healthy brains reveals Palmitoyl‐Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering into lipofuscin may contribute to physiological neuronal ageing.
Anstötz M, Tschirner S, May C, Kösters S, Martin C, Caspers S, Aronica E, Bidmon HJ, Marcus K, Korth C.   +9 more
europepmc   +2 more sources