Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
CLN8 deficiency causes a subtype of NCL, referred to as CLN8 disease.
|
30453012 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This is the fourth variant identified in CLN8 that causes NCL in dogs.
|
29446145 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings expand the variant diversity of CLN8 and demonstrate the tremendous diagnosis value of targeted next-generation sequencing for pediatric NCLs.
|
29422019 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL.
|
27844444 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene.
|
28024876 |
2017 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report a 6-year-old Japanese boy with NCL with a novel missense mutation in CLN8.
|
26443629 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example, mutations in CLN5, CLN6, MFSD8, or CLN8 can underlie the clinically similar late infantile variant NCL disease.
|
21990111 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with CLN8 mutations usually present as the late-infantile-onset neuronal ceroid lipofuscinosis phenotype and are mostly Turkish and Italian, but three patients from Israel, Pakistan, and Germany were also reported.
|
22964447 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in CLN8 causes neuronal ceroid-lipofuscinosis, but our results indicate that its increased expression may protect against severe GD1.
|
22388998 |
2012 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined.
|
20680390 |
2011 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
|
19807737 |
2010 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that patients with clinical signs of late infantile NCL and characteristic ultrastructural inclusions should also be screened for CLN8 mutations independent of their ethnic origin.
|
19807737 |
2010 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes.
|
19431184 |
2009 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL.
|
17129765 |
2007 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene.
|
17560505 |
2007 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that the CLN8 T-to-C transition is the likely cause of English Setter NCL.
|
15629147 |
2005 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Progressive epilepsy with mental retardation, EPMR, belongs to a group of inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses.
|
16086686 |
2005 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
|
15160397 |
2004 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
|
15024724 |
2004 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
|
15160397 |
2004 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8.
|
15459177 |
2004 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These eight NCL forms resulted from 100 different mutations on genes CLN1to CLN8 causing different phenotypes (http://www.ucl.ac.uk/ncl).
|
11548735 |
2001 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In five of the eight NCL variants distinguished at present, genes associated with the disease process have been isolated and characterized (CLN1, CLN2, CLN3, CLN5, CLN8).
|
11332776 |
2001 |