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A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients.
Parkinsonism Relat Disord
December 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria. Electronic address:
Background: Variants in the UQCRC1 gene have been proposed to cause autosomal dominant Parkinson's disease with neuropathy. However, definitive confirmation of UQCRC1 as an authentic Parkinson's gene remains elusive, as follow-up studies have not yet provided conclusive evidence.
Methods: 382 Austrian Parkinson's patients, particularly selected for familial and/or early onset cases, were Exome sequenced.
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.
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.
medRxiv
April 2024
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52,143 individuals, reconstructing clinical histories using a large-scale data mining approach of the Electronic Medical Records (EMR) from an entire large paediatric healthcare network.
View Article and Find Full Text PDFFormoterol Acting via β2-Adrenoreceptor Restores Mitochondrial Dysfunction Caused by Parkinson's Disease-Related UQCRC1 Mutation and Improves Mitochondrial Homeostasis Including Dynamic and Transport.
Biology (Basel)
March 2024
Department of Neurology, Changhua Christian Hospital, Changhua 500, Taiwan.
Formoterol, a β2-adrenergic receptor (β2AR) agonist, shows promise in various diseases, but its effectiveness in Parkinson's disease (PD) is debated, with unclear regulation of mitochondrial homeostasis. This study employed a cell model featuring mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) variants associated with familial parkinsonism, demonstrating mitochondrial dysfunction and dynamic imbalance, exploring the therapeutic effects and underlying mechanisms of formoterol. Results revealed that 24-h formoterol treatment enhanced cell proliferation, viability, and neuroprotection against oxidative stress.
View Article and Find Full Text PDFRare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.
Neurobiol Aging
February 2024
Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China. Electronic address:
Mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene has been identified as a causative gene for autosomal dominant Parkinson's disease (PD), with the p.Y314S variant potentially associated with polyneuropathy in PD patients. The objectives of our study were to screen for UQCRC1 variants in Chinese patients with early-onset PD (EOPD) and explore the role of UQCRC1 in EOPD.
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