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.
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Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage [PDF]
Disease Models & Mechanisms, 2018 Juvenile neuronal ceroid lipofuscinosis (jNCL) is a rare but fatal inherited lysosomal storage disorder mainly affecting children. The disease is caused by mutations in the CLN3 gene that lead to the accumulation of storage material in many tissues ...
Katharina Dannhausen +2 more
doaj +2 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 +3 more
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Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis [PDF]
eLife, 2017 Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death ...
Benedikt Grünewald +12 more
doaj +2 more sources
Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). [PDF]
PLoS ONE, 2014 Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3 that leads to vision loss, progressive cognitive and motor decline, and premature death.
Maria Burkovetskaya +7 more
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Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]
Dev Med Child NeurolThis 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 +4 more
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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 NeurobiolABSTRACT 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 +9 more
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Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. [PDF]
Surv Ophthalmol, 2009 Juvenile neuronal ceroid lipofuscinoses, or Batten disease, is the most common type of NCL in the United States and Europe. This devastating disorder presents with vision failure and progresses to include seizures, motor dysfunction, and dementia. Death usually occurs in the third decade, but some patients die before age twenty. Though the mechanism of
Bozorg S +3 more
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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 +15 more
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Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. [PDF]
Dev Med Child Neurol, 2015 AimTo evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL).MethodData from an ongoing natural history study of JNCL were analyzed using cross‐sectional and longitudinal methods. Seizures were evaluated with the Unified Batten Disease Rating Scale, a disease‐specific quantitative ...
Augustine EF +10 more
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