Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report [PDF]
Epilepsy & Behavior Reports, 2021 The Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of rare neurolipidosis disorders characterized by progressive blindness, deterioration of speech and motor function, cognitive decline, behavior problems, seizures, and premature death. We report
Molly D. Himmelrich +3 more
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Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) [PDF]
Data in Brief, 2020 Juvenile neuronal ceroid lipofuscinosis (JNCL, aka. juvenile Batten disease or CLN3 disease), a lethal pediatric neurodegenerative disease without cure, often presents with vision impairment and characteristic ophthalmoscopic features including focal ...
Qing Jun Wang +3 more
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Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease) [PDF]
Frontiers in Psychiatry, 2023 BackgroundJuvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome.
John R. Ostergaard
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Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)–A Long-Term Follow-Up Study [PDF]
Frontiers in Neurology, 2022 It is well documented that deteriorating heart function due to deposition of ceroid lipopigment is a significant co-morbidity in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease) although the exact disease mechanisms remain unknown in any NCL form ...
Mette Møller Handrup +3 more
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Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease) [PDF]
Frontiers in Neurology, 2023 BackgroundRecurrent non-epileptic episodes of frightened facial and body expression occur in more than half of post-adolescent patients with juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3 disease).
John R. Ostergaard
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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
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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
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Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons [PDF]
Acta Neuropathologica Communications, 2017 The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progression and ...
Lotta Parviainen +12 more
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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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Epilepsy in Juvenile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2000 The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland.
J Gordon Millichap
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