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Review
. 2012 Nov 15;322(1-2):82-6.
doi: 10.1016/j.jns.2012.06.016. Epub 2012 Jul 15.

Genetics of age-related white matter lesions from linkage to genome wide association studies

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Review

Genetics of age-related white matter lesions from linkage to genome wide association studies

Paul Freudenberger et al. J Neurol Sci. .

Abstract

White matter lesions are a frequent phenomenon in the elderly and contribute to the development of disability. The mechanisms underlying these brain lesions are still not fully understood with age and hypertension being the most well established risk factors. The heritability of white matter lesions is consistently high in different populations. Candidate gene studies strongly support the role of genes involved in the renin-angiotensin system, as well as Notch3 signaling. The recent genome wide association study by the CHARGE consortium identified a novel locus on chromosome 17q25 harboring several genes such as TRIM65 and TRIM47 which pinpoint to possible novel mechanisms leading to white matter lesions.

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Figures

Fig. 1
Fig. 1
White matter lesions (WML) in T2-weighted FLAIR MRI scans. Panel A shows periventricular WML: from left to right caps, pencil-thin lining and halo. Panel B shows deep or subcortical WML: from left to right punctate, early-confluent and confluent lesions.

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