|
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 |
|
rs562740927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through scanning the exons and flanking intronic sequences of PANK2 in patient and control subjects, we report a compound heterozygote c. 260A > G (NM_001324191) and c.405dupC (NM_153638) for PANK2 mutations in a Chinese patient with clinical manifestation of progressive prosopospasm, dysarthria and gait disturbance.
|
29962256 |
2018 |
|
rs63750009
|
|
|
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 |
|
rs63751243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism.
|
18442119 |
2008 |
|
rs74315403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 67-year-old patient with the D178N-129M mutation showed progressive gait disturbance and dysarthria was in progress.
|
19698114 |
2009 |
|
rs771744744
|
|
|
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 |
|
rs1043679457
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518813
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057518936
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057519389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
|
rs1114167423
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
|
28652255 |
2017 |
|
rs1217391623
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918358
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
rs1345176461
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs141659620
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
rs142110773
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
|
2614104 |
1989 |
|
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
|
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
|
24668549 |
2014 |