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Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center
Most of the heritability in frontotemporal dementia (FTD) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open...
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CANVAS: Fallbericht einer neuen Repeat-Erkrankung mit spät beginnender Ataxie
This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia...
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Huntington disease-like 2: insight into neurodegeneration from an African disease
Huntington disease (HD)-like 2 (HDL2) is a rare genetic disease caused by an expanded trinucleotide repeat in the JPH3 gene (encoding junctophilin 3)...
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Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy
PurposeTo evaluate the association of single nucleotide polymorphisms (SNPs) and the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 ...
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Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit
A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in...
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Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin
BackgroundThe ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic disorders....
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Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study
IntroductionThe CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene ( FMR1 ) gene shows increased instability upon...
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Effect of vomer position following surgically assisted rapid palatal expansion
PurposeTo evaluate the effect of vomer position and prevalence of periodontal dehiscence in patients who underwent surgically assisted rapid palatal...
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Correction to: DRPLA: understanding the natural history and develo** biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder
A correction to this paper has been published: https://doi.org/10.1007/s00415-021-10644-0
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Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland
BackgroundUsing the Clinical Audit Research and Evaluation of Motor Neuron Disease (CARE-MND) database and the Scottish Regenerative Neurology Tissue...
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G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
The G 4 C 2 repeat expansion in the C9orf72 gene is the most common genetic cause of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Many...
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Acenocoumarol-Induced Anticoagulant–Related Nephropathy with Newly Diagnosed IgA Nephropathy: a Repeat Biopsy Case Report
Anticoagulant-related nephropathy (ARN) is an underestimated cause of acute kidney injury (AKI) with poor renal and overall prognosis. Pathogenesis...
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Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
BackgroundHereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts, and...
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Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report
BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both...
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Poly-glycine–alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3
Repeat expansion in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Expanded sense and antisense repeat RNA...
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Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease
ObjectivesNeuronal intranuclear inclusion disease (NIID) exhibited significant clinical heterogeneities. However, the clinical features, radiographic...
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Peripheral inflammatory markers and clinical correlations in patients with frontotemporal lobar degeneration with and without the C9orf72 repeat expansion
In this study, our aim was to evaluate potential peripheral inflammatory changes in frontotemporal lobar degeneration (FTLD) patients carrying or not...
