CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1.
|
31814335 |
2019 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
We consider our TPP1 test on DBS to be a reliable, convenient and inexpensive tool for a first diagnostic step in suspected CLN2 disease.
|
30771299 |
2019 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131 unique variants from 389 individuals (717 alleles) collected from the literature review, public databases, and laboratory communications.
|
31283065 |
2019 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the assay could be easily combined with a TPP1 enzyme assay (for CLN2 disease) and can be potentially multiplexed with a large panel of additional lysosomal enzyme assays by MS/MS for newborn screening and postscreening analysis.
|
30204428 |
2018 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children.
|
29688815 |
2018 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1).
|
30323181 |
2018 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.
|
28464005 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease).
|
28792770 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
These studies indicate that optimal treatment outcomes for CLN2 disease may require delivery of TPP1 systemically as well as directly to the central nervous system.
|
28079862 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death.
|
28335910 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical application of whole-exome sequencing across clinical indications.
|
26633542 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene.
|
27553878 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
|
26032578 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1).
|
24938720 |
2014 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
TPP1, encoding the tripeptidyl-peptidase 1 enzyme, is known as the causative gene for late infantile neuronal ceroid lipofuscinosis disease 2 (CLN2 disease).
|
23418007 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
|
23418007 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to characterize the pathological and functional consequences of Tpp1 deficiency in zebrafish and to correlate these with human CLN2 disease, thereby providing a platform for drug discovery.
|
23587805 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
2013 |