The Ovine Model of Neuronal Ceroid Lipofuscinosis (NCL): Its Contribution to Understanding the Pathogenesis of Batten Disease

1997 ◽  
Vol 28 (01) ◽  
pp. 60-62 ◽  
Author(s):  
R. Jolly
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Ovine Model ◽  
Ceroid Lipofuscinosis

Altered Flurothyl Seizure Induction Latency, Phenotype, and Subsequent Mortality in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis/Batten Disease

Epilepsia ◽  
2002 ◽  
Vol 43 (10) ◽  
pp. 1137-1140 ◽  
Author(s):  
Elizabeth Kriscenski-Perry ◽  
Craig D. Applegate ◽  
Andrew Serour ◽  
Timothy R. Mhyre ◽  
Christopher C. Leonardo ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data

2011 ◽  
Vol 34 (5) ◽  
pp. 1075-1081 ◽  
Author(s):  
Jennifer Cialone ◽  
Erika F. Augustine ◽  
Nicole Newhouse ◽  
Heather Adams ◽  
Amy Vierhile ◽  
...  
Keyword(s):  
Quantitative Data ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)

Neurology ◽  
2011 ◽  
Vol 77 (20) ◽  
pp. 1801-1807 ◽  
Author(s):  
J. M. Kwon ◽  
H. Adams ◽  
P. G. Rothberg ◽  
E. F. Augustine ◽  
F. J. Marshall ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Physical Decline ◽  
Ceroid Lipofuscinosis

scholarly journals Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

2011 ◽  
Vol 69 (1) ◽  
pp. 13-18 ◽  
Author(s):  
Eugênia Ribeiro Valadares ◽  
Mayara Xavier Pizarro ◽  
Luiz Roberto Oliveira ◽  
Regina Helena Caldas de Amorim ◽  
Tarcísio Márcio Magalhães Pinheiro ◽  
...  
Keyword(s):  
Clinical Data ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Batten Disease ◽  
Large Family ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Autistic Behavior ◽  
Ceroid Lipofuscinosis ◽  
Molecular Investigation ◽  
Deceased Child ◽  
Common Group

OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.

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