C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition

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Kaivola , K , Kiviharju , A , Jansson , L , Rantalainen , V , Eriksson , J G , Strandberg , T E , Laaksovirta , H , Renton , A E , Traynor , B J , Myllykangas , L & Tienari , P 2019 , ' C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition ' , Neurobiology of Aging , vol. 84 , pp. 242.e7-242.e12 . https://doi.org/10.1016/j.neurobiolaging.2019.02.026

Title: C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition
Author: Kaivola, Karri; Kiviharju, Anna; Jansson, Lilja; Rantalainen, Ville; Eriksson, Johan G.; Strandberg, Timo E.; Laaksovirta, Hannu; Renton, Alan E; Traynor, Bryan J.; Myllykangas, Liisa; Tienari, Pentti
Contributor: University of Helsinki, Neurologian yksikkö
University of Helsinki, Research Programs Unit
University of Helsinki, HUS Neurocenter
University of Helsinki, Department of Psychology and Logopedics
University of Helsinki, Clinicum
University of Helsinki, HUS Internal Medicine and Rehabilitation
University of Helsinki, HUS Neurocenter
University of Helsinki, HUSLAB
University of Helsinki, HUS Neurocenter
Date: 2019-12
Language: eng
Number of pages: 6
Belongs to series: Neurobiology of Aging
ISSN: 0197-4580
URI: http://hdl.handle.net/10138/309537
Abstract: The hexanucleotide repeat expansion in C9orf72 is a common cause of amyotrophic lateral sclerosis/frontotemporal dementia and also rarely found in other psychiatric and neurodegenerative conditions. Alleles with >30 repeats are often considered an expansion, but the pathogenic repeat length threshold is still unclear. It is also unclear whether intermediate repeat length alleles (often defined either as 7-30 or 20-30 repeats) have clinically significant effects. We determined the C9orf72 repeat length distribution in 3142 older Finns (aged 60-104 years). The longest nonexpanded allele was 45 repeats. We found 7-45 repeats in 1036/3142 (33%) individuals, 20-45 repeats in 56/3142 (1.8%), 30-45 repeats in 12/3142 (0.38%), and expansion (>45 repeats) in 6/3142 (0.19%). There was no apparent clustering of neurodegenerative or psychiatric diseases in individuals with 30-45 repeats indicating that 30-45 repeats are not pathogenic. None of the 6 expansion carriers had a diagnosis of amyotrophic lateral sclerosis/frontotemporal dementia but 4 had a diagnosis of a neurodegenerative or psychiatric disease. Intermediate length alleles (categorized as 7-45 and 20-45 repeats) did not associate with Alzheimer's disease or cognitive impairment. (C) 2019 The Author(s). Published by Elsevier Inc.
Subject: 3124 Neurology and psychiatry
Genetics
Alzheimer's disease
Dementia
C9orf72
Cohort studies
HUNTINGTONS-DISEASE
ALZHEIMERS-DISEASE
EXPANSION
SIZE
ASSOCIATION
DEMENTIA
CHILDREN
GROWTH
BIRTH
AGE
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