|
Friedreich Ataxia
|
0.010 |
Biomarker
|
disease |
BEFREE |
In SCA6 and FA Cho/Cr and mI/Cr did not differ with respect to controls but SCA6 patients indicated higher Cho/Cr compared to SCA1 patients in cerebellum.
|
31838195 |
2020 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that CAG repeat expansion mutations in CACNA1A are not a frequent monogenic cause of fALS but could phenotypically present as ALS in rare instances.
|
30342765 |
2019 |
|
Psoriasis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we examined the preventative effects of MHP1-AcN in a mouse model of imiquimod (a TLR 7/8 agonist)-induced psoriasis.
|
31659208 |
2019 |
|
Skin lesion
|
0.010 |
Biomarker
|
group |
BEFREE |
Systemic administration of MHP1-AcN by daily subcutaneous injection significantly prevented the development of skin lesions, including erythema, scaling and thickening.
|
31659208 |
2019 |
|
Erythema
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Systemic administration of MHP1-AcN by daily subcutaneous injection significantly prevented the development of skin lesions, including erythema, scaling and thickening.
|
31659208 |
2019 |
|
Benign Paroxysmal Positional Vertigo
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
CONCLUSIONS The onset of BPPV is related to the increased levels of cholesterol and uric acid, as well as the dominant homozygous mutation of rs2074880 (T/G) in the CACNA1A gene.
|
30710491 |
2019 |
|
Lennox-Gastaut syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
|
31468518 |
2019 |
|
Essential Tremor
|
0.010 |
Biomarker
|
disease |
BEFREE |
The median percentage of empty baskets in ET patients was 1.5 times higher than controls (48.8% vs 33.5%, p < 0.001) but lower in ET than in SCA1 (59.7%, p = 0.011), SCA2 (77.5%, p = 0.003), and SCA6 (87.0%, p < 0.001).
|
30590599 |
2019 |
|
Lymphedema, microcephaly and chorioretinopathy syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.The diagnostic yield was 58.8%.
|
30301590 |
2019 |
|
Malan overgrowth syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
|
31574590 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we review recent preclinical and clinical progress in the use of peptide-based vaccines as anticancer therapeutics.<b>Abbreviations:</b> CMP: carbohydrate-mimetic peptide; CMV: cytomegalovirus; DC: dendritic cell; FDA: Food and Drug Administration; HPV: human papillomavirus; MDS: myelodysplastic syndrome; MHP: melanoma helper vaccine; NSCLC: non-small cell lung carcinoma; ODD: orphan drug designation; PPV: personalized peptide vaccination; SLP: synthetic long peptide; TAA: tumor-associated antigen; TNA: tumor neoantigen.
|
30524907 |
2018 |
|
melanoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we review recent preclinical and clinical progress in the use of peptide-based vaccines as anticancer therapeutics.<b>Abbreviations:</b> CMP: carbohydrate-mimetic peptide; CMV: cytomegalovirus; DC: dendritic cell; FDA: Food and Drug Administration; HPV: human papillomavirus; MDS: myelodysplastic syndrome; MHP: melanoma helper vaccine; NSCLC: non-small cell lung carcinoma; ODD: orphan drug designation; PPV: personalized peptide vaccination; SLP: synthetic long peptide; TAA: tumor-associated antigen; TNA: tumor neoantigen.
|
30524907 |
2018 |
|
Alagille Syndrome
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We conclude that expression of the Cacna1a mRNA increased before the onset of AWS susceptibility, suggesting that altered Ca<sub>V</sub>2.1 channel expression may play a role in AWS pathogenesis.
|
29277284 |
2018 |
|
Motor Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
To our knowledge, none of these genes have previously been associated with isolated BSP, although other CACNA1A mutations have been associated with both positive and negative motor disorders including ataxia, episodic ataxia, hemiplegic migraine, and dystonia.
|
29770609 |
2018 |
|
Generalized seizures
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Whereas the deletion of Cacna1a in γ-aminobutyric acidergic (GABAergic) interneurons (INs) derived from the medial ganglionic eminence (MGE) impairs cortical inhibition and causes generalized seizures in Nkx2.1<sup>Cre</sup> ;Cacna1a<sup>c/c</sup> mice, the targeted deletion of Cacna1a in somatostatin-expressing INs (SOM-INs), a subset of MGE-derived INs, does not result in seizures, indicating a crucial role of parvalbumin-expressing (PV) INs.
|
30048010 |
2018 |
|
Rett Syndrome, Atypical
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.
|
29366381 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.010 |
Biomarker
|
group |
BEFREE |
Here, we review recent preclinical and clinical progress in the use of peptide-based vaccines as anticancer therapeutics.<b>Abbreviations:</b> CMP: carbohydrate-mimetic peptide; CMV: cytomegalovirus; DC: dendritic cell; FDA: Food and Drug Administration; HPV: human papillomavirus; MDS: myelodysplastic syndrome; MHP: melanoma helper vaccine; NSCLC: non-small cell lung carcinoma; ODD: orphan drug designation; PPV: personalized peptide vaccination; SLP: synthetic long peptide; TAA: tumor-associated antigen; TNA: tumor neoantigen.
|
30524907 |
2018 |
|
cerebellar function
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
As a positive control, the same cerebellar tests were conducted in 13 patients with familial hemiplegic migraine type 1 (FHM1; age range 19-64; 69% female) all carrying a CACNA1A mutation known to affect cerebellar function.
|
27059879 |
2017 |
|
Mitochondrial Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (10%) and mitochondrial disease (10%).
|
27965395 |
2017 |
|
Unverricht-Lundborg Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous variant, c.6975_6976insCAG, in the CACNA1A was identified in the PME family.
|
29089769 |
2017 |
|
HUNTINGTON DISEASE-LIKE 2
|
0.010 |
Biomarker
|
disease |
BEFREE |
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies.
|
28987184 |
2017 |
|
Nonprogressive/congenital
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Most recently, CACNA1A mutations have been identified in patients with nonprogressive congenital ataxia (NPCA).
|
28007337 |
2017 |
|
Hypertensive disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Mixed-effect models were used to assess additive associations of 176 tag single-nucleotide polymorphisms (SNPs) in CACNA1A and CACNA1C with longitudinal BP changes and hypertension incidence.
|
27418245 |
2016 |
|
Floppy infant syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Genetic testing of CACNA1A in patients with congenital hypotonia and developmental delay may be warranted.
|
26739101 |
2016 |
|
CADASIL Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, a novel missense mutation in the CACNA1A gene was also identified in one CADASIL patient.
|
27881154 |
2016 |