rs1057518813
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518936
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1345176461
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs142110773
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553878395
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555475794
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555507479
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555745467
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1561515242
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1564045331
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs181109321
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs374434303
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs375817528
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730882198
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs748787734
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
rs770703007
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs781934508
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs797045055
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs104894107
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.
|
9989622 |
1999 |
rs1158702707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction.
|
27230854 |
2016 |
rs121918097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype.
|
27238058 |
2016 |
rs142157346
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.
|
9989622 |
1999 |
rs2516839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning.
|
29598907 |
2018 |
rs28933385
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 58-year-old patient with the E200K mutation coupled to the 129MV codon had gait disturbance, dysarthria, agitation, and ataxic gait, and progressed rapidly to death 3 months from the first onset of symptoms.
|
19698114 |
2009 |
rs374263073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.
|
19912322 |
2010 |