New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
(Source: Neurogenetics)
Source: Neurogenetics - December 29, 2023 Category: Genetics & Stem Cells Source Type: research
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
In this study, we fused multiomic assessments in established NCL models with similar data on the more common late-onset neurodegenerative conditions in order to test the hypothesis of shared molecular fingerprints critical to the underlying pathological mechanisms. Our aim, ultimately, is to combine data analysis, cell models, and omic strategies in an effort to trace new routes to therapies that might readily be applied in the most common forms of dementia. (Source: Neurogenetics)
Source: Neurogenetics - December 20, 2023 Category: Genetics & Stem Cells Source Type: research
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate. (Source: Neurogenetics)
Source: Neurogenetics - December 18, 2023 Category: Genetics & Stem Cells Source Type: research
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
AbstractSynaptotagmin-1 (SYT1) plays a pivotal role in regulating presynaptic processes, including neurotransmitter release. SYT1 variants perturb synaptic vesicle endocytosis and exocytosis, resulting in a series of neurodevelopmental disorders defined as Baker-Gordon syndrome. Herein, we report the case of a newborn with dysmorphic facial appearance, severe hypotonia, poor feeding, gastroesophageal reflux, and an inability to eat and breathe, diagnosed with Baker –Gordon syndrome. A retrospective search was performed on a newborn with Baker-Gordon syndrome. Medical charts were reviewed, with focus on the clinical prese...
Source: Neurogenetics - November 6, 2023 Category: Genetics & Stem Cells Source Type: research
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
In this study, our aim is to find prevalence of bi-allelic (AAGGG)exp in Indian ataxia and other neurological disorders and investigate the complexity ofRFC1 repeat locus and its potential association with neurodegenerative diseases in Indian population-based cohorts. We carried out repeat number and repeat type estimation using flanking PCR and repeat primed PCR (AAAAG/AAAGG/AAGGG) in four Indian disease cohorts and healthy controls. Haplotype assessment of suspected cases was done by genotyping and confirmed by Sanger sequencing. Blood samples and consent of all the cases and detailed clinical details of positive cases w...
Source: Neurogenetics - November 2, 2023 Category: Genetics & Stem Cells Source Type: research
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
In this study, three novel loss-of-functionSMPD4 variants were identified using exome sequencing (ES) in two independent patients with developmental delays, microcephaly, seizures, and brain structural abnormalities. Patient 1 had a homozygous c.740_741del, p.(Val247Glufs*21) variant and showed profound intellectual disability, hepatomegaly, a simplified gyral pattern, and a thin corpus callosum without congenital dysmorphic features. Patient 2 had a compound heterozygous nonsense c.2124_2125del, p.(Phe709*) variant and splice site c.1188+2dup variant. RNA analysis revealed that the c.1188+2dup variant caused exon 13 skipp...
Source: Neurogenetics - October 26, 2023 Category: Genetics & Stem Cells Source Type: research
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
(Source: Neurogenetics)
Source: Neurogenetics - October 7, 2023 Category: Genetics & Stem Cells Source Type: research
