|
rs606231435
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations.
|
29066118 |
2018 |
|
rs606231435
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene.
|
22924536 |
2012 |
|
rs1057519429
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities.
|
28742085 |
2017 |
|
rs104894107
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have an atypical phenotype with a slow disease progression, minimal or no ataxia, or gait spasticity.
|
11843702 |
2002 |
|
rs104894107
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G > T (p.G130V) missense mutation.
|
20162437 |
2010 |
|
rs104894107
|
|
|
0.030 |
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 |
|
rs113994097
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan.
|
17300808 |
2007 |
|
rs113994097
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss.
|
18321754 |
2008 |
|
rs113994097
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland.
|
20153822 |
2010 |
|
rs1064797245
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations.
|
29066118 |
2018 |
|
rs1064797245
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome previously described in a patient with the c.2266C>T (R756C) mutation.
|
28647130 |
2017 |
|
rs121908212
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic.
|
28856914 |
2018 |
|
rs121908212
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.
|
15210532 |
2004 |
|
rs121908225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT.
|
19520699 |
2009 |
|
rs121908225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R192Q KI mice are non-ataxic, whereas S218L KI mice display a complex behavioral phenotype that includes cerebellar ataxia.
|
26208839 |
2015 |
|
rs58982919
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI.
|
28501821 |
2017 |
|
rs58982919
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia.
|
26645395 |
2016 |
|
rs61755320
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This is the largest <i>SPG7</i> cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant.
|
31068484 |
2019 |
|
rs61755320
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia.
|
30098094 |
2019 |
|
rs74315401
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, the screening for the P102L mutation, or even the sequencing of the PRNP gene should be taken in consideration in patients with late-onset ataxia (>50 years).
|
18566986 |
2008 |
|
rs74315401
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders.
|
29509064 |
2018 |
|
rs771578775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels.
|
21873089 |
2012 |
|
rs771578775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found no evidence of a Dutch founder for the c.1042C>T mutation in AR ataxia.
|
20580948 |
2010 |
|
rs104894699
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The previously identified p.Arg420His mutation occurred in three families with late-onset ataxia.
|
19953606 |
2010 |
|
rs1057518011
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p.G66R TMEM240 variant from Colombia), demonstrating that, in addition to cerebellar ataxia, not only hypokinetic features (hypomimia, bradykinesia), but also hyperkinetic movement disorders (poly-mini-myoclonus, proximal myoclonus) are a recurrent part of the phenotypic spectrum of SCA21.
|
30522958 |
2019 |