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[Mechanisms of juvenile neuronal ceroid lipofuscinosis (JNCL)].
Yi chuan = Hereditas, 2009Juvenile neuronal ceroid lipofuscinosis (JNCL) is one type of the neuronal ceroid lipofuscinosis (NCLs), which is a group of pediatric neurodegenerative disorders. The symptoms of JNCL are retinal degeneration (rd), seizures, cognitive, and motor decline.
Shi-Yao, Wang, Wei-Na, Jin, Dan, Wu
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Visual “release” hallucinations in juvenile neuronal ceroid-lipofuscinosis
Pediatric Neurology, 1993A child with juvenile neuronal ceroid-lipofuscinosis developed formed and unformed visual hallucinations with the development of blindness. The hallucinations lasted for prolonged periods, were of simple, varied, and novel content and were not associated with any ictal manifestations.
D J, Lanska, M J, Lanska
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Juvenile-onset Neuronal Ceroid-Lipofuscinosis in Rambouillet Sheep
Veterinary Pathology, 1994Two, 8-month-old Rambouillet half-sister ewes with signs of visual loss and decreased mentation were examined. Ewe No. 1 was necropsied at 10 months of age, and alter being held under observation for a further 6 months, ewe No. 2 was necropsied at 16 months of age. At that time, the ewe was blind and severely depressed.
J F, Edwards +4 more
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A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
Neurology, 2001To study the effect of dopaminergic drugs on the parkinsonism in juvenile neuronal ceroid lipofuscinosis, the authors conducted an open study of 21 patients. According to the motor Unified PD Rating Scale (UPDRS) score, treatment was initiated with either levodopa (n = 10) or selegiline (n = 6). Five patients served as a control group.
L E, Aberg +3 more
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[Juvenile neuronal ceroid lipofuscinosis].
Ugeskrift for laeger, 1998Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be differentiated into several subgroups according to age of onset, the clinical picture, neurophysiological and neuropathological abnormalities and ...
J R, Ostergaard, J M, Hertz
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First African-American child with juvenile neuronal ceroid lipofuscinosis
American Journal of Medical Genetics, 1998The neuronal ceroid lipofuscinoses are among the most common forms of progressive neurodegenerative disease of childhood. They appear to be panethnic, but there is a special predilection of the infantile subtype in Finland. In the United States, the Batten disease registry of 731 cases shows that juvenile neuronal ceroid lipofuscinosis (JNCL) is the ...
C, Inan +4 more
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Vision Loss as the Presenting Sign in Juvenile Neuronal Ceroid Lipofuscinosis
Journal of Neuro-Ophthalmology, 2000To review cases of juvenile neuronal ceroid lipofuscinosis (JNCL) and highlight salient clinical and diagnostic features, thereby enhancing recognition of this disease among ophthalmologists.Twelve cases of JNCL seen from 1982 to 1999 were reviewed. Diagnosis was based on characteristic clinical history, ophthalmoscopic findings, electroretinography ...
L I, Bohra +3 more
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Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Neurology, 2011To explore the onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (JNCL).The study population comprised an unselected group of 29 children and adolescents with genetically verified JNCL. We focused on T-wave abnormalities on an EKG, cardiac hypertrophy, and left ventricular systolic function on echocardiography, and
Østergaard, John Rosendahl +2 more
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Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis
Journal of Intellectual Disability Research, 2004AbstractBackground Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the most common neurodegenerative disorders in childhood and adolescence. The clinical picture includes diverse and complex psychiatric symptoms that are difficult to treat. Only symptomatic treatment is available.
M L, Bäckman +3 more
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Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis
European Journal of Paediatric Neurology, 2001Fourteen patients with a confirmed diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) (aged 6-12.5 years at the beginning of the study) were prospectively followed for 5 years. An electroencephalogram (EEG) was recorded and analysed both visually and quantitatively and a neuropsychological examination was performed once a year.
A, Larsen +3 more
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