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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with the C9orf72 repeat expansion being the...
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Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in...
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Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG) 400–2000 , at AAAAG repeat locus in RFC1 gene, is known as underlying genetic...
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Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis
IntroductionAmyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been...
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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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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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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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GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome
A genetic diagnosis cannot be made in a considerable proportion of patients with hereditary lower motor neuron (LMN) syndromes. The GGC repeat...
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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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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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Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions
Genetic factors play a major role in frontotemporal dementia (FTD). The majority of FTD cannot be genetically explained yet and it is likely that...
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Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms
Purpose of ReviewTo present recent findings on the links between the C9orf72 expansion and psychiatric impairment.
Recent FindingsRepeat...
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Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication
IntroductionAmyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with an elusive etiology. While environmental factors have been...
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Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients
BackgroundThe present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on...
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Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
Background and objectivesThe C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD) and/or motor neuron disease (MND)....
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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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Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis
Background and objectivesAmyotrophic lateral sclerosis associated with mutations in SOD1 ( SOD1 -ALS) might be susceptible to specific treatment. The...
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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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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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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...
