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The GGCC repeat expansion of the first intron of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), accounting for 38% and 25% of familial cases, respectively
Therapies targeting C9orf72 repeat expansions such as small molecules, 12 antisense oligonucleotides (ASOs), 13–18 siRNAs, 19 microRNAs, and CRISPR-based approaches are rapidly developing
Glycoprotein levels in immune CSF were not found to correlate with clinical disease markers or neurofilament CSF levels, which are non-disease-specific biomarkers of neurodegeneration
This article was published in the Journal of Neurology, Neurosurgery & Psychiatry .
Fifty-five participants were from GENFI, a natural history study of genetic FTD based on 27 sites in Europe and Canada
Fifty-five participants were from GENFI, a natural history study of genetic FTD based on 27 sites in Europe and Canada
Comparison of Monoclonal and Polyclonal Anti-Poly (GP) Antibodies in Simoa Homemade Assays
Cerebrospinal fluid and plasma were collected, processed, and stored in aliquots in the laboratory − at 80°C according to standardized procedures
Cerebrospinal fluid and plasma were collected, processed, and stored in aliquots in the laboratory − at 80°C according to standardized procedures
The mean value of the C9orf72 samples was 38-fold higher than that of the control group, both below the lower limit of quantification of the analysis
C9orf72 amplifies glycan protein levels in the cerebrospinal fluid of carriers
C9orf72 amplifies glycan protein levels in the cerebrospinal fluid of carriers
Compared with presymptomatic carriers, symptomatic carriers had higher than average poly(GP) levels, but this difference was not significant
WilsonKM ,KatonaE ,Glaria I , et alDevelopment of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72 -associated frontotemporal dementia and amyotrophic lateral sclerosis Journal of Neurology, Neurosurgery & Psychiatry Published Online First: 04 April 2022.
doi: 10.
1136/jnnp-2021-328710 Wilson KM, Katona E, Glaria IWilson KMWilsonKatona EKatonaGlaria IGlaria, et alDevelopment of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72 -associated frontotemporal dementia and amyotrophic lateral sclerosis C9orf72 Journal of Neurology, Neurosurgery & Psychiatry Published Online First: 04 April 2022.
Published Online First: doi: 10.
1136/jnnp- 2021-328710 doi:
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