Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Of particular importance was the finding of normal TPP-I activity in two patients who had been diagnosed as having classical late infantile neuronal ceroid lipofuscinosis.
|
11588996 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
|
20340139 |
2010 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Tripeptidyl aminopeptidase I (TPPI) is a crucial lysosomal enzyme that is deficient in the fatal neurodegenerative disorder called classic late-infantile neuronal ceroid lipofuscinosis (LINCL).
|
20689811 |
2010 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
To assess this concept, an adeno-associated virus vector (AAV2CUh-CLN2) will be used to transfer to and express the human CLN2 cDNA in the brain of children with LINCL.
|
15610613 |
2004 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity.
|
11462245 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function.
|
24015292 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type.
|
17690061 |
2007 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Treatment of LINCL fibroblasts with recombinant CLN2 protein restores normal enzyme activity and ameliorates accumulation of the major storage protein, mitochondrial ATP synthase subunit c.
|
11415435 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
|
15317752 |
2004 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of archival specimens indicates that several specimens previously classified as LINCL have enzyme activity and thus disease is unlikely to arise from mutations in CLN2.
|
10428067 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
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 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Complementary molecular studies identified mutations in the CLN2 gene in the archival tissues and thereby convincingly demonstrated that these three children truly had classic late infantile neuronal ceroid lipofuscinosis (LINCL), now called CLN2.
|
11588998 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
28 disease-causing missense mutations are analyzed in the light of the TPP1 structure providing insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
|
19038966 |
2009 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our prior studies showed that delivery of the human CLN2 cDNA directly to the CNS, using an adeno-associated virus serotype 2 (AAV2) vector, is safe in children with LINCL.
|
23131032 |
2012 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
This observation suggests that the presence of small amounts of TPP-I in lysosomes is able to delay significantly CLN2 disease process.
|
11589013 |
2001 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
A total average dose of 2.5 10(12) particle units of an adeno-associated virus (AAV) serotype 2 vector expressing the human CLN2 cDNA (AAV2 CU h-CLN2) was administered to 12 locations in the CNS of 10 children with LINCL.
|
18473686 |
2008 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
|
27491216 |
2016 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis.
|
23768618 |
2013 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
CTD_human |
A recent study has shown mutations in CLN2 gene, that encodes a novel lysosomal pepstatin-insensitive proteinase (LPIP), in the pathophysiology of late-infantile neuronal ceroid lipofuscinosis (LINCL).
|
10320038 |
1999 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results indicate the feasibility of vector-mediated gene transfer of TPP-I to the CNS as a potential therapy for LINCL.
|
12525835 |
2003 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by mutations in the Cln2 gene leading to deficiency of lysosomal enzyme tripeptidyl peptidase 1 (TPP1).
|
30928643 |
2019 |