|
rs3512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A sequence variation (rs3512) in FAN1 gene has previously been shown to be associated with late AO in Huntington's disease and polyglutaminopathies associated to ataxia.
|
31587151 |
2020 |
|
rs397514749
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of note, 2 heterozygous missense variants (c.1438C>T, p.R480 W; c.1309C>G, p.R437G), both lying in the second spectrin repeat of SPTBN2, have been linked to infantile-onset cerebellar ataxia, similar to SCAR14.
|
31617442 |
2020 |
|
rs755221106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although a recurrent heterozygous mutation (p.Arg1715His) in CACNA1G is known to cause adult-onset spinocerebellar ataxia 42 (SCA42*616795), gain-of-function mutations in this gene have recently been identified by whole exome sequencing (WES) in four children with cerebellar atrophy and ataxia, psychomotor delay, and other variable features.
|
31836334 |
2020 |
|
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 |
|
rs118204095
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous R173Q mice were embryonic lethal, while R167Q homozygous mice (R167Q+/+) had ~5% of normal HMBS activity, constitutively elevated plasma and urinary 5-aminolevulinic acid (ALA) and porphobilinogen (PBG), profound early-onset ataxia, delayed motor development and markedly impaired rotarod performance.
|
30615115 |
2019 |
|
rs118204096
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous R173Q mice were embryonic lethal, while R167Q homozygous mice (R167Q+/+) had ~5% of normal HMBS activity, constitutively elevated plasma and urinary 5-aminolevulinic acid (ALA) and porphobilinogen (PBG), profound early-onset ataxia, delayed motor development and markedly impaired rotarod performance.
|
30615115 |
2019 |
|
rs373893038
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members.Phenotype is severe and broad.
|
30279051 |
2019 |
|
rs587777004
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous mutation (p.Thr52Pro) in COX20 gene has been previously described to cause muscle hypotonia and ataxia.
|
31079202 |
2019 |
|
rs1318256630
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the novel mutation, p.R414C, adds up to the literature for the infantile-onset form of autosomal recessive ataxia associated with SPTBN2.
|
29196973 |
2018 |
|
rs58332872
|
|
|
0.010 |
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 |
|
rs727502818
|
|
|
0.010 |
GeneticVariation |
BEFREE |
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia.
|
28145425 |
2017 |
|
rs143319805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000).
|
27879217 |
2016 |
|
rs28933383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Family 2 had an 8-year-old patient with muscle spasms with rigidity for whom WES revealed a previously reported heterozygous missense mutation in KCNA1 c.677C>G (p.T226R), confirming the diagnosis of EA1 without ataxia.
|
26395884 |
2016 |
|
rs886041761
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID.
|
27543892 |
2016 |
|
rs121918100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the neuropathologic findings from a brain autopsy of a 72-year-old man with the rare Tyr69His (Y69H) TTR gene variant, dementia and ataxia.
|
26156087 |
2015 |
|
rs148156462
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No significant differences existed in the genotype frequency and minor allele frequency of Val393Ala between patients and controls or between MSA characterized predominantly by cerebellar ataxia and by pakinsonism groups.
|
25442117 |
2015 |
|
rs770684782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified an atypical form of Ataxia with Oculoapraxia type 2 (AOA2) with myoclonus at onset associated with the c.6292C > T (p.Arg2098*) homozygous mutation.
|
25927548 |
2015 |
|
rs201754030
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The same p.Q286X variant was found as compound heterozygous with a splice site change in a patient from a second family, with juvenile-onset optic atrophy, peripheral neuropathy, and ataxia.
|
25037205 |
2014 |
|
rs587777343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed exome sequencing in a family with two of three siblings afflicted with ataxia and hypogonadism and identified a homozygous mutation in STUB1 (NM_005861) c.737C→T, p.Thr246Met, a gene that encodes the protein CHIP (C-terminus of HSC70-interacting protein).
|
24113144 |
2014 |
|
rs28933381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The fourth family harboured a previously reported A242P mutation, which has not been previously described in association with ataxia.
|
23349320 |
2013 |
|
rs119456965
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome.
|
21873089 |
2012 |
|
rs121908217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although p.Arg583Gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent.
|
22527033 |
2012 |
|
rs121908224
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively.
|
22549042 |
2012 |
|
rs267606670
|
|
|
0.010 |
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 |
|
rs1335702493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia.
|
21324166 |
2011 |