|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CSTB may play a critical role in brain physiology because its mutations cause progressive myoclonic epilepsy-1A (EPM1A), the most common form of progressive myoclonic epilepsy.
|
31467503 |
2019 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Forty-nine patients aged 36.6 ± 15.6 years with PME of various aetiology (18 EPM1, 12 EPM2, five with sialidosis, one with Kufs disease, one with EPM7, and 12 undetermined) were enrolled between January 2017 and June 2018.
|
31446282 |
2019 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Stefin B (cystatin B) is an intracellular inhibitor of cysteine cathepsins and mutations in the stefin B gene, resulting in the development of Unverricht-Lundborg disease, which is a form of myoclonic epilepsy.
|
31766320 |
2019 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The expression profiles of CSTB and other candidate modifying genes, cathepsin B and cystatin C, were established by quantitative RT-PCR, and their respective transcription levels were compared with those from patients with a classic picture of ULD.
|
31368437 |
2019 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is also suggested how more knowledge about the role of stefin B in a cell's response to misfolded proteins could be used to modulate progressive myoclonus epilepsy of type 1 EPM1 disease.
|
30669344 |
2019 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (<i>CSTB</i>) that encodes an inhibitor of several lysosomal cathepsins.
|
30208654 |
2018 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD.
|
29978618 |
2018 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
EPM1 (epilepsy, progressive myoclonic 1; Unverricht-Lundborg disease, OMIM #254800) is the most frequent form of progressive myoclonus epilepsy.
|
27785699 |
2017 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht-Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800).
|
28378817 |
2017 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3.
|
27888502 |
2017 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We also briefly mention our studies on aggregation of some of the missense EPM1 mutants of stefin B in cells, which mimic additional pathological traits (gain in toxic function) in selected patients with EPM1 disease.
|
27577977 |
2017 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
|
26843564 |
2016 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This consensus helped define the various types of PME known at the time and set the agenda for a new era of genetic research which soon lead to the discovery of many PME genes.
|
27621064 |
2016 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
|
26843564 |
2016 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
|
26843564 |
2016 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The study population consisted of 66 (33 men and 33 women) patients with genetically confirmed EPM1 homozygous for the CSTB expansion mutation for whom the sizes of the expanded alleles were determined.
|
25770194 |
2015 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
JME shares electroclinical features with Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration.
|
25752200 |
2015 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using newly established PCR protocol with betaine, we detected a homozygous expansion of dodecamer repeats in the CSTB gene in four patients with clinical diagnosis of ULD.
|
23883076 |
2014 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Stefin B (cystatin B) is an endogenous cysteine cathepsin inhibitor, and the loss-of-function mutations in the stefin B gene were reported in patients with Unverricht-Lundborg disease (EPM1).
|
25288807 |
2014 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Unverricht-Lundborg disease is presently thought to be due to damage to neurons by lysosomal cathepsins and reactive oxygen species due to absence of cystatin B, a small protein that inactivates cathepsins and, by ways yet unknown, quenches damaging redox compounds.
|
23622396 |
2013 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
|
23205931 |
2012 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.
|
22936898 |
2012 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
EPM1A due to compound heterozygous CSTB mutations presents with variable but often markedly severe and particular phenotypes.
|
23205931 |
2012 |
|
Unverricht-Lundborg Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
|
21757863 |
2011 |