Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Abstract Background A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Currently, much remains unknown about which variables may modi...

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Bibliographic Details
Main Authors: Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Molecular Neurodegeneration
Subjects:
C9orf72
Amyotrophic lateral sclerosis
Motor neuron disease
Repeat expansion disorder
Anticipation
Hypermethylation
Online Access:https://doi.org/10.1186/s13024-020-0359-8

Internet

https://doi.org/10.1186/s13024-020-0359-8

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