|
rs1178466848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic forms show a striking variability in their clinical and neuropathological picture and can sometimes mimic other neurodegenerative diseases.We report a novel PRNP mutation (V189I) in four CJD patients from three unrelated pedigrees.
|
30606247 |
2019 |
|
rs1265011107
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
|
rs1272951905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients.
|
31108397 |
2019 |
|
rs200161705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients.
|
31108397 |
2019 |
|
rs2435200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TAU rs2435211 (C>T) and rs2435200 (G>A) polymorphisms are involved in pathological tau expression and neurodegenerative disease risk.
|
30554614 |
2019 |
|
rs2435211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TAU rs2435211 (C>T) and rs2435200 (G>A) polymorphisms are involved in pathological tau expression and neurodegenerative disease risk.
|
30554614 |
2019 |
|
rs537742207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
|
rs587777606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7.
|
30903322 |
2019 |
|
rs63751177
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for whole exome screen which revealed NCL type 11 due to homozygous mutation c.912G>A (p.Trp304Ter) in exon 9 of GRN gene (OMIM#614706).
|
30922528 |
2019 |
|
rs66468541
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
|
rs72824905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology.
|
31131421 |
2019 |
|
rs755221106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Spinocerebellar ataxia 42 (SCA42) is a neurodegenerative disorder recently shown to be caused by c.5144G > A (p.Arg1715His) mutation in CACNA1G, which encodes the T-type voltage-gated calcium channel Ca<sub>V</sub>3.1.
|
31229688 |
2019 |
|
rs771845093
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients.
|
31108397 |
2019 |
|
rs1481950
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study identified rs1481950 within ATP6V1H influencing human CSF BACE activity, which indicated that ATP6V1H gene may play some roles in the pathogenesis of neurodegenerative diseases such as AD.
|
29751835 |
2018 |
|
rs156697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two coding single nucleotide polymorphisms (SNPs) supposedly affect their functions: GSTO1*C419A (rs4925) causing alanine to aspartate substitution (*A140D) and GSTO2*A424G (rs156697) causing asparagine to aspartate substitution (*N142D), and have been associated with several neurodegenerative diseases and cancers.
|
30224590 |
2018 |
|
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eighty-six deceased male athletes with a history of participation in American football, informant-reported Caucasian, and a positive postmortem diagnosis of CTE without comorbid neurodegenerative disease were genotyped for rs3173615.
|
30390709 |
2018 |
|
rs398122403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389).
|
29179256 |
2018 |
|
rs4925
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two coding single nucleotide polymorphisms (SNPs) supposedly affect their functions: GSTO1*C419A (rs4925) causing alanine to aspartate substitution (*A140D) and GSTO2*A424G (rs156697) causing asparagine to aspartate substitution (*N142D), and have been associated with several neurodegenerative diseases and cancers.
|
30224590 |
2018 |
|
rs74315401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders.
|
29509064 |
2018 |
|
rs75548401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GBA variant, p.Thr408Met, was found to have an allele frequency of 6.94% in SND cases which was significantly higher compared with normal (0%) and other neurodegenerative disease pathologies (0.74%), suggesting that it is associated with MSA.
|
30203094 |
2018 |
|
rs104893875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Most aSyn mutations linked to neurodegenerative disease hindered neuronal survival in this model; of these mutations, the E46K mutation proved to be the most toxic.
|
28900007 |
2017 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Yet the expression of BRAF(V600E) in the haematopoietic stem cell lineage causes leukaemic and tumoural diseases but not neurodegenerative disease.
|
28854169 |
2017 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Yet the expression of BRAF(V600E) in the haematopoietic stem cell lineage causes leukaemic and tumoural diseases but not neurodegenerative disease.
|
28854169 |
2017 |
|
rs121917767
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders.
|
26899237 |
2017 |
|
rs397515634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several familial mutations of UCH-L1, namely p.Ile93Met (p.I93M), p.Glu7Ala (p.E7A), and p.Ser18Tyr (p.S18Y), are associated with PD and other neurodegenerative disorders.
|
26899237 |
2017 |