C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

C9orf72 G4C2 repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Its role in Alzheimer's disease (AD) is less clear. We assessed the prevalence of G4C2 pathogenic repeat expansions in Flanders-Belgian patients with clinical AD or mild cognit...

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Veröffentlicht in:Neurobiology of aging 2013-06, Vol.34 (6), p.1712.e1-1712.e7
Hauptverfasser: Cacace, Rita, Van Cauwenberghe, Caroline, Bettens, Karolien, Gijselinck, Ilse, van der Zee, Julie, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Van Dongen, Jasper, Bäumer, Veerle, Dillen, Lubina, Mattheijssens, Maria, Peeters, Karin, Cruts, Marc, Vandenberghe, Rik, De Deyn, Peter P., Van Broeckhoven, Christine, Sleegers, Kristel
Format: Artikel
Sprache:eng
Schlagworte:
Aged
Aged, 80 and over
Aging
Alzheimer Disease - diagnosis
Alzheimer Disease - epidemiology
Alzheimer Disease - genetics
Belgium - epidemiology
C9orf72
C9orf72 Protein
Cognitive Dysfunction - diagnosis
Cognitive Dysfunction - epidemiology
Cognitive Dysfunction - genetics
Cohort Studies
DNA Repeat Expansion - genetics
Female
G4C2 repeat expansion
Genetic association study
Humans
Male
MCI
Prospective Studies
Proteins - genetics
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Zusammenfassung:C9orf72 G4C2 repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Its role in Alzheimer's disease (AD) is less clear. We assessed the prevalence of G4C2 pathogenic repeat expansions in Flanders-Belgian patients with clinical AD or mild cognitive impairment (MCI). In addition, we studied the effect of non-pathogenic G4C2 repeat length variability on susceptibility to AD, and on AD cerebrospinal fluid (CSF) biomarker levels. A pathogenic repeat expansion was identified in 5 of 1217 AD patients (frequency
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2012.12.019