Impaired cognition
|
0.200 |
Biomarker
|
disease |
BEFREE |
As neuronal function is supported by astrocytes, which express dystrophin, we hypothesized that loss of dystrophin from DMD astrocytes might contribute to these cognitive defects.
|
31434868 |
2019 |
Impaired cognition
|
0.200 |
Biomarker
|
disease |
BEFREE |
We have previously shown that inadequate dystrophin in cortical neurons in mdx mice is associated with age-dependent dyshomeostasis of resting intracellular Ca<sup>2+</sup> ([Ca<sup>2+</sup>]<sub>i</sub>) and Na<sup>+</sup> ([Na<sup>+</sup>]<sub>i</sub>), elevated reactive oxygen species (ROS) production, increase in neuronal damage and cognitive deficit.
|
29582400 |
2018 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The 47 enrolled patients, defined with a Full Scale Intelligence Quotient (FSIQ) of 80.38 (one SD below average), and presenting a large and significant difference in FSIQ in relation to the site of mutation along the dystrophin gene (distal mutations associated with a more severe cognitive deficit), were showing Internalizing Problems (23.4%) and Autism Spectrum Disorders (14.8%).
|
28392227 |
2017 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Dystrophin (Dp) gene is responsible for Duchenne muscular dystrophy (DMD), which is characterized by progressive muscular degeneration and variable degrees of cognitive impairment.
|
28851655 |
2017 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although there is no strict genotype-phenotype correlation, particularly mutations in the distal part of the dystrophin gene are frequently associated with short stature and a high rate of microcephaly as well as cognitive impairment.
|
24100172 |
2014 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our study shows also that cognitive impairment in symptomatic DMD carriers is associated with mutations in the distal part of the DMD gene.
|
23299919 |
2013 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The risk of ADHD appears to be higher in patients carrying mutations predicted to affect dystrophin isoforms expressed in the brain and are known to be associated with higher risk of cognitive impairment.
|
22560791 |
2012 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, for reasons that are unclear, some boys with dystrophin mutations do not show general cognitive deficits.
|
21109441 |
2011 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
|
20098710 |
2010 |
Impaired cognition
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy.
|
14977063 |
2004 |
Impaired cognition
|
0.200 |
Biomarker
|
disease |
BEFREE |
Cognitive impairment in individuals with DMD is thought to be due to an abnormality in the neuronal membrane that is caused by lack of dystrophin.
|
10675908 |
2000 |
Impaired cognition
|
0.200 |
Biomarker
|
disease |
BEFREE |
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
|
10909857 |
2000 |
Impaired cognition
|
0.200 |
Biomarker
|
disease |
BEFREE |
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
|
9800909 |
1998 |
Impaired cognition
|
0.200 |
Biomarker
|
disease |
BEFREE |
These findings suggest a possible role of the cerebral and cerebellar hypometabolism in the cognitive impairment of DMD.
|
7981593 |
1994 |
Impaired cognition
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|