Article
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
Arquivos de neuro-psiquiatria - 1 Feb 2011
Valadares Eugênia Ribeiro, Pizarro Mayara Xavier, Oliveira Luiz Roberto, Amorim Regina Helena Caldas de, Pinheiro Tarcísio Márcio Magalhães, Grieben Ulrike, Santos Helena Hollanda, Queiroz Rachel Rabelo, Lopes Guilherme de Castro, Godard Ana Lúcia Brunialti
Abstract excerpt
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...
Topics
- Adolescent
- Brazil
- Cause of Death
- Child
- Consanguinity
- Electrophoresis, Agar Gel
- Exons
- Female
- Gene Deletion
- Humans
- Male
- Neuronal Ceroid-Lipofuscinoses
- Night Blindness