Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer ’s disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages
(Source: Neurogenetics)
Source: Neurogenetics - October 2, 2021 Category: Genetics & Stem Cells Source Type: research
Acknowledgement to referees 2020/2021
(Source: Neurogenetics)
Source: Neurogenetics - September 18, 2021 Category: Genetics & Stem Cells Source Type: research
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
In conclusion,TBK1 andFUS variants do not seem to interact in a simple additive way. Rather, the phenotype ofFUS/TBK1 double-mutant patients appears to be dominated by theFUS mutation. (Source: Neurogenetics)
Source: Neurogenetics - September 13, 2021 Category: Genetics & Stem Cells Source Type: research
Correction to: Increased unfolded protein responses caused by MED17 mutations
(Source: Neurogenetics)
Source: Neurogenetics - September 13, 2021 Category: Genetics & Stem Cells Source Type: research
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
In conclusion,TBK1 andFUS variants do not seem to interact in a simple additive way. Rather, the phenotype ofFUS/TBK1 double-mutant patients appears to be dominated by theFUS mutation. (Source: Neurogenetics)
Source: Neurogenetics - September 13, 2021 Category: Genetics & Stem Cells Source Type: research
Correction to: Increased unfolded protein responses caused by MED17 mutations
(Source: Neurogenetics)
Source: Neurogenetics - September 13, 2021 Category: Genetics & Stem Cells Source Type: research
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
AbstractBiallelic variants in theNARS2 gene are the cause of a continuous spectrum of neurodegenerative disorders presenting with various severity-from spastic paraplegia, progressive neurodegeneration to Leigh and Alpers syndrome. Common clinical signs result from a mitochondrial dysfunction based on OXPHOS deficiency. Here, we present a patient with infantile-onset severe epilepsy leading to fatal refractory status epilepticus. Whole exome sequencing with Exomiser analysis based on HPO terms detected two novelNARS2 variants in a compound heterozygous state. To date, 18 differentNARS2 disease-causing mutations have been d...
Source: Neurogenetics - August 20, 2021 Category: Genetics & Stem Cells Source Type: research
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study
AbstractCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in theNTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we investigated CIPA patients identified from French laboratories sequencing theNTRK1 gene, and seven patients were identified. Patients originated from France (2), Suriname (2), Mali (1), Kazakhstan (1), and Algeria (1). Mean age of patients was 9.8 years (4–20), four patients were female (57%), infant developmental milestones were delayed in four cases (57%), and four ...
Source: Neurogenetics - August 17, 2021 Category: Genetics & Stem Cells Source Type: research
Spinocerebellar ataxias (SCAs) caused by common mutations
This article focuses on SCAs caused by common mutations. It describes phenotype and genotype of the presently 27 types known and discusses the molecular pathogenesis in those 21 types where the disease gene has been identified. Apart from the dominant types, the article also summarizes findings in a variant caused by mutations in a mitochondrial gene. Possible common disease mechanisms are considered based on findings in the various SCAs described. (Source: Neurogenetics)
Source: Neurogenetics - August 16, 2021 Category: Genetics & Stem Cells Source Type: research
