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N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, University Children's Hospital and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany.
Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.
View Article and Find Full Text PDFInherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene.
DNA Cell Biol
January 2025
Department of Otorhinolaryngology, Peking University Shenzhen Hospital, Shenzhen, China.
Hereditary spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative disorders caused by a variety of gene variants. At least 44 types of SCAs have been identified to date, and more than 35 genes and hundreds of variants have been reported that are associated with SCAs. We have investigated a Pakistani consanguineous six-generation family with SCA by using whole-exome sequencing analysis.
View Article and Find Full Text PDFCACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
Brain
October 2024
Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, 6500 HB Nijmegen, The Netherlands.
Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes with epilepsy and intellectual disability. To understand the pathological mechanisms of CACNA1A loss-of-function variants, we characterized a human neuronal model for CACNA1A haploinsufficiency, by differentiating isogenic induced pluripotent stem cell lines into glutamatergic neurons, and investigated the effect of CACNA1A haploinsufficiency on mature neuronal networks through a combination of electrophysiology, gene expression analysis, and in silico modeling. We observed an altered network synchronization in CACNA1A+/- networks alongside synaptic deficits, notably marked by an augmented contribution of GluA2-lacking AMPA receptors.
View Article and Find Full Text PDFIntrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in .
Front Neurol
October 2024
Department of Pediatrics, Pediatric Neurology, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.
Article Synopsis
- The study focuses on three siblings with severe early-onset neurological issues linked to compound heterozygous variants in a specific gene, highlighting symptoms like muscular hypotonia, seizures, and apnoea.
- Two of the siblings died young, with suspected causes related to their conditions, while the third sibling developed epilepsy and mild intellectual impairment.
- Genetic testing revealed both maternal and paternal pathogenic variants associated with the severe phenotype of developmental epileptic encephalopathy (DEE), emphasizing the need for further research to understand unusual clinical cases related to these genetic disorders.
The clinical and genetic spectrum of paediatric speech and language disorders.
Brain
October 2024
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Article Synopsis
- Speech and language disorders have a significant genetic component, but research specifically focusing on linguistic differences as unique conditions has been limited.
- An analysis of over 52,000 pediatric individuals revealed that these disorders are most common between ages 2 and 5, with only 12% of stuttering cases accurately coded in medical records.
- The study identified key genetic disorders linked to these disorders and found notable associations between specific genetic variants and conditions like aphasia and speech delays related to hearing loss.
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