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   Articles with "hexanucleotide repeat" as a keyword



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The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

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recommendations! Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"

DOI: 10.1080/21678421.2019.1588904

Abstract: Abstract C9orf72 hexanucleotide repeat expansions are the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Genetic testing for C9orf72 expansions in patients with ALS and/or FTD and their relatives has… read more here.

Keywords: repeat; testing laboratories; c9orf72; c9orf72 hexanucleotide ... See more keywords
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Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72

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recommendations! Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"

DOI: 10.1080/21678421.2019.1604761

Abstract: Abstract We describe a patient, previously known for NMOSD, who presented a rapidly progressive worsening of muscle strength, respiratory, and bulbar functions. ALS associated with cognitive impairment was diagnosed, while genetic analysis revealed a hexanucleotide… read more here.

Keywords: concurrence nmosd; repeat expansions; patient hexanucleotide; nmosd als ... See more keywords
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Secondary mania as a possible presentation of a C9orf72 hexanucleotide repeat expansion.

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recommendations! Published in 2019 at "Bipolar disorders"

DOI: 10.1111/bdi.12724

Abstract: C9Orf72 hexanucelotide repeat expansions have been associated with ALS and FTD. Although various psychiatric symptoms have been described in patients with C9Orf72 hexanucleotide repeat expansions, the full clinical spectrum has not yet been elucidated. There… read more here.

Keywords: c9orf72 hexanucleotide; repeat; secondary mania; hexanucleotide repeat ... See more keywords
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Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion

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recommendations! Published in 2019 at "Behavioural Neurology"

DOI: 10.1155/2019/2909168

Abstract: Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by… read more here.

Keywords: repeat expansion; function; repeat; molecular mechanisms ... See more keywords
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The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome

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recommendations! Published in 2017 at "eNeuro"

DOI: 10.1523/eneuro.0249-16.2017

Abstract: Abstract An intronic hexanucleotide repeat expansion (HRE) mutation in the C9ORF72 gene is the most common cause of familial ALS and frontotemporal dementia (FTD) and is found in ∼7% of individuals with apparently sporadic disease.… read more here.

Keywords: arginine dipeptide; proline arginine; repeat; arginine ... See more keywords
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C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity

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recommendations! Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1087098

Abstract: C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual risk outside the hexanucleotide repeat expansion, but the evidence is conflicting. Here,… read more here.

Keywords: repeat expansion; lateral sclerosis; amyotrophic lateral; hexanucleotide repeat ... See more keywords