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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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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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 Østergaard
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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.
Qingjun Wang, Madhu Ouseph
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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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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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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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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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Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis [PDF]
Epilepsia, 1999 Summary: Purpose: To evaluate the effects of lamotrigine (LTG) therapy on epileptic seizures and general well‐being in patients with juvenile neuronal ceroid lipofuscinosis (JNCL). Methods: LTG was initiated in 28 patients with JNCL. The mean age of the patients at the initiation of LTG was 13.7 years (range, 6.7–28.2 years).
L, Aberg, E, Kirveskari, P, Santavuori
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