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Current advances in neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to pathogenic GGC expansions in...
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Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report
BackgroundSpinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant form of inherited ataxia, caused by heterozygous trinucleotide repeat...
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Safety and activity of WX-0593 (Iruplinalkib) in patients with ALK- or ROS1-rearranged advanced non-small cell lung cancer: a phase 1 dose-escalation and dose-expansion trial
WX-0593 (Iruplinalkib) is a novel, highly selective oral ALK and ROS1 tyrosine kinase inhibitor (TKI). In this study, the safety, antitumor activity,...
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Presymptomatic grey matter alterations in ALS kindreds: a computational neuroimaging study of asymptomatic C9orf72 and SOD1 mutation carriers
BackgroundThe characterisation of presymptomatic disease-burden patterns in asymptomatic mutation carriers has a dual academic and clinical...
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The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape
Purpose of ReviewPathogenic DNA variants underlie many cardiovascular disease phenotypes. The most well-recognized of these include familial...
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Eye movement alterations in presymptomatic C9orf72 expansion gene carriers
ObjectiveThe clinical manifestation of amyotrophic lateral sclerosis (ALS) is characterized by motor neuron degeneration, whereas frontotemporal...
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Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
Background and purposeMyotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion...
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The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era
BackgroundHuntington disease prevalence was first estimated in Grampian, northern Scotland in 1984. Molecular testing has since increased...
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Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)
Chronic cough is common, and in many cases unexplained or refractory to otherwise effective treatment of associated medical conditions. Cough...
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NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report
BackgroundOculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal, and...
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Clinical impact of a new optical coherence tomography-derived volumetric method for evaluating stent expansion
The aim of this study was to investigate the impact of a new optical coherence tomography (OCT)-derived volumetric method for stent expansion...
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Expansion of a national differentiated service delivery model to support people living with HIV and other chronic conditions in South Africa: a descriptive analysis
BackgroundSouth Africa is home to 7.7 million people living with HIV and supports the largest antiretroviral therapy (ART) program worldwide. Despite...
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Can a Non-Contrast CT Scan of Brain Predict Hematoma Expansion in Acute Intracerebral Hemorrhage?
A 52-year-old male presented with acute intracerebral hemorrhage. The non-contrast CT scan of brain was suggestive of the “CT blend sign” which...
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Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
BackgroundStudies have reported that a noncoding hexanucleotide repeat in C9ORF72 , is the most common genetic cause of amyotrophic lateral sclerosis...
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Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood
BackgroundMyotonic dystrophy type 1 (DM1) is an incurable multisystem disease caused by a CTG-repeat expansion in the DM1 protein kinase ( DMPK )...
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A 20-year bibliometric analysis of Fuchs endothelial corneal dystrophy: from 2001 to 2020
PurposeThe aim of this study was to identify trends and focuses in the field of Fuchs endothelial corneal dystrophy (FECD) research.
Methods ...
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Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nuclei, which is a common...
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HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS
A ‘GGGGCC’ repeat expansion in the first intron of the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and...
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Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study
BackgroundThe rationale for this paper is a description of a patient from Southeast Europe with genetically confirmed Huntington’s disease (HD),...