Article
Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
Neuroscience letters - 21 Oct 2005
Kwon Jennifer M, Rothberg Paul G, Leman Adam R, Weimer Jill M, Mink Jonathan W, Pearce David A
Abstract excerpt
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is a childhood neurodegenerative disease that is characterized clinically by progressive visual loss, seizures, dementia, and motor incoordination. Children affected with this disease tend to develop normally for the first 5 years of life. However, once disease onset occurs, they decline rapidly and die in their late 20s to early 30s. Though this...
Topics
- Adult
- Brain
- Codon, Nonsense
- DNA Mutational Analysis
- Disease Progression
- Exons
- Female
- Genetic Predisposition to Disease
- Humans
- Membrane Glycoproteins
- Molecular Chaperones
- Mutation
- Neuronal Ceroid-Lipofuscinoses
- Phenotype
- Point Mutation
- Protein Structure, Tertiary