BACKGROUNDTo evaluate the descriptive epidemiological information on neuronal ceroid lipofuscinoses (NCLs) in Italy, determine the spectrum of mutations in the causative genes, and analyze attainable genotype-phenotype relations.METHODSA cohort of NCL sufferers was recruited by means of CLNet, a nationwide community of youngster neurology items. Diagnosis was based mostly on scientific and pathological standards following ultrastructural investigation of peripheral tissues.
Molecular affirmation was obtained throughout the diagnostic process or, when attainable, retrospectively.RESULTSOne hundred eighty-three NCL sufferers from 156 households have been recruited between 1966 and 2010; 124 of these sufferers (from 88 households) have been examined for identified NCL genes, with 9.7% of the sufferers in this pattern having not a genetic analysis. Late childish onset NCL (LINCL) accounted for 75.8% of molecularly confirmed circumstances, probably the most frequent kind being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL sufferers accounted for 17.7% of this cohort, a smaller proportion than discovered in different European international locations. Gene mutations predicted extreme protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 circumstances.
An incidence price of 0.98/100,000 dwell births was discovered in 69 NCL sufferers born between 1992 and 2004, predicting 5 new circumstances a 12 months. Prevalence was 1.2/1,000,000.CONCLUSIONSDescriptive epidemiology information point out a decrease incidence of NCLs in Italy as in comparison with different European international locations.
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
A comparatively excessive quantity of personal mutations affecting all NCL genes would possibly clarify the genetic heterogeneity. Specific gene mutations have been related to extreme scientific programs in chosen NCL kinds solely.
Description: A polyclonal antibody against GAB1 (Ab-627). Recognizes GAB1 (Ab-627) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: A polyclonal antibody against GAB1 (Ab-627). Recognizes GAB1 (Ab-627) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000
Description: DL-Leucyl-DL-phenylalanine is a dipeptide and can be used as a substrate to detecte two regions of dipeptidase staining on a gel in Drosophila simulans as well as in Drosophila melanogaster[1][2].
Description: A sandwich quantitative ELISA assay kit for detection of Bovine S100 Calcium Binding Protein A9 (S100A9) in samples from serum, plasma or other biological fluids.
Bovine S100 Calcium Binding Protein A9 (S100A9) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Bovine S100 Calcium Binding Protein A9 (S100A9) in samples from serum, plasma or other biological fluids.
Human S100 Calcium Binding Protein A9 (S100A9) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human S100 Calcium Binding Protein A9 (S100A9) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Human S100 Calcium Binding Protein A9 (S100A9) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human S100 Calcium Binding Protein A9 (S100A9) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Mouse S100 Calcium Binding Protein A9 (S100A9) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Mouse S100 Calcium Binding Protein A9 (S100A9) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Mouse S100 Calcium Binding Protein A9 (S100A9) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Mouse S100 Calcium Binding Protein A9 (S100A9) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Human S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Human S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Mouse S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Mouse S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Mouse S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Mouse S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Rat S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Rat S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Rat S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Rat S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Rabbit S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Rabbit S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Rabbit S100 Calcium Binding Protein B (S100B) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Rabbit S100 Calcium Binding Protein B (S100B) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Human S100 Calcium Binding Protein P (S100P) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human S100 Calcium Binding Protein P (S100P) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Human S100 Calcium Binding Protein P (S100P) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human S100 Calcium Binding Protein P (S100P) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Human Sphingosine 1 Phosphate Receptor 1 (S1PR1) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Sphingosine 1 Phosphate Receptor 1 (S1PR1) in samples from tissue homogenates, cell lysates or other biological fluids.
Human Sphingosine 1 Phosphate Receptor 1 (S1PR1) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Sphingosine 1 Phosphate Receptor 1 (S1PR1) in samples from tissue homogenates, cell lysates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Sphingosine 1 Phosphate Receptor 1 (S1PR1) in samples from tissue homogenates, cell lysates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Sphingosine 1 Phosphate Receptor 1 (S1PR1) in samples from tissue homogenates, cell lysates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Bovine Serum Amyloid A (SAA) in samples from serum, plasma or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Bovine Serum Amyloid A (SAA) in samples from serum, plasma or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Human Serum Amyloid A (SAA) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Human Serum Amyloid A (SAA) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Serum Amyloid A (SAA) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Serum Amyloid A (SAA) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Rabbit Serum Amyloid A (SAA) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Rabbit Serum Amyloid A (SAA) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Human Serum Amyloid A2 (SAA2) in samples from serum, plasma or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Human Serum Amyloid A2 (SAA2) in samples from serum, plasma or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Serum Amyloid A2 (SAA2) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Serum Amyloid A2 (SAA2) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Salusin Alpha (SALa) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Salusin Alpha (SALa) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Salusin Beta (SALb) in samples from serum, plasma, tissue homogenates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Salusin Beta (SALb) in samples from serum, plasma, tissue homogenates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Rat Salusin Beta (SALb) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Rat Salusin Beta (SALb) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Human Serum Amyloid P Component (SAP) in samples from serum, plasma, tissue homogenates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Human Serum Amyloid P Component (SAP) in samples from serum, plasma, tissue homogenates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Serum Amyloid P Component (SAP) in samples from serum, plasma, tissue homogenates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Serum Amyloid P Component (SAP) in samples from serum, plasma, tissue homogenates or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Rat Serum Amyloid P Component (SAP) in samples from serum, plasma or other biological fluids.
Description: A sandwich quantitative ELISA assay kit for detection of Rat Serum Amyloid P Component (SAP) in samples from serum, plasma or other biological fluids.
Human Spermidine/Spermine N1-Acetyltransferase 1 (SAT1) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Spermidine/Spermine N1-Acetyltransferase 1 (SAT1) in samples from tissue homogenates, cell lysates or other biological fluids.
Human Spermidine/Spermine N1-Acetyltransferase 1 (SAT1) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Spermidine/Spermine N1-Acetyltransferase 1 (SAT1) in samples from tissue homogenates, cell lysates or other biological fluids.
