neuronal ceroid lipofuscinosis
Introduction
Introduction to neuronal waxy lipofuscinosis basic knowledge The proportion of illness: 0.013% Susceptible people: no special people Complications: dementia
Cause
Causes of neuronal waxy lipofuscinosis
Genetic factors (98%)
Pathogenesis
Six subtypes of NCL have been found to have abnormal genes. These genes encode two kinds of proteins, one is lysosomal protease, the other is membrane protein, and the CLN1 gene is located on autosomal 1p32. Mutation occurs in 223A and 451C, which encodes the lysosomal enzyme palmitoyl protein lipase (PPTT1). The pathological feature of this NCL is the deposition of eosinophilic particles, characterized by the appearance of eosinophilic particles. The causative gene of juvenile NCL is also a gene encoding PPTT1, which is located on the autosome 11p15, mutated at 523?G and 636C, and encodes a peptidase-insensitive lysosomal peptidase (tripeptide). The acyl peptidase, TPP1), CLN3 gene is located on the autosome 16p12, and at least 23 mutations or 1.02-kb deletions of this gene encode an unexplained 438 amino acid transmembrane protein named Battenin. The CLN2 gene is located on the autosome 13q22, possibly encoding a membrane protein, the gene of CLN6 is located on the autosome 15q21-23, the encoded protein is not clear, the gene of CLN8 is located on the autosome 8p23, possibly encoding a 286 amino acid transmembrane protein, CLN4 and CN7
Prevention
Neuronal waxy lipofuscinosis prevention
Complication
Neuronal waxy lipofuscinosis