Abstract
Compromised lysosomal functioning has been identified as a major risk factor for neurodegenerative
disorders such as Alzheimer's and Parkinson's diseases. Furthermore, the association
between a defined cathepsin D (CTSD) polymorphism and a higher risk of sporadic Alzheimer's disease has been established
for particular populations. Here, we analyzed 189 children with rare neurodegenerative
disease for carrying the T-allele by polymerase chain reaction-restriction fragment
length polymorphism. We found no statistical differences in genotype and allele frequencies
between the neurodegenerative group and European descent participants of genetic studies
using the Cochran–Armitage's trend test. In contrast to adult-onset neurodegenerative
diseases, analysis of clinical datasets of children carrying the T-allele did not
demonstrate differences to the general disease group.
Keywords
lysosomal dysfunction - childhood dementia - neurodegenerative disorders - cathepsin
D polymorphism
