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Semin Neurol 2020; 40(04): 420-429
DOI: 10.1055/s-0040-1713631
Review Article

Genetics of Chronic Traumatic Encephalopathy

Bobak Abdolmohammadi
1   Boston University Alzheimer’s Disease Center, Boston University School of Medicine, Boston, MA
2   Boston University Chronic Traumatic Encephalopathy Center, Boston University School of Medicine, Boston, MA
3   Department of Neurology, Boston University School of Medicine, Boston, MA
,
Alicia Dupre
1   Boston University Alzheimer’s Disease Center, Boston University School of Medicine, Boston, MA
2   Boston University Chronic Traumatic Encephalopathy Center, Boston University School of Medicine, Boston, MA
3   Department of Neurology, Boston University School of Medicine, Boston, MA
,
Laney Evers
1   Boston University Alzheimer’s Disease Center, Boston University School of Medicine, Boston, MA
2   Boston University Chronic Traumatic Encephalopathy Center, Boston University School of Medicine, Boston, MA
3   Department of Neurology, Boston University School of Medicine, Boston, MA
,
Jesse Mez
1   Boston University Alzheimer’s Disease Center, Boston University School of Medicine, Boston, MA
2   Boston University Chronic Traumatic Encephalopathy Center, Boston University School of Medicine, Boston, MA
3   Department of Neurology, Boston University School of Medicine, Boston, MA
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Abstract

Although chronic traumatic encephalopathy (CTE) garners substantial attention in the media and there have been marked scientific advances in the last few years, much remains unclear about the role of genetic risk in CTE. Two athletes with comparable contact-sport exposure may have varying amounts of CTE neuropathology, suggesting that other factors, including genetics, may contribute to CTE risk and severity. In this review, we explore reasons why genetics may be important for CTE, concepts in genetic study design for CTE (including choosing controls, endophenotypes, gene by environment interaction, and epigenetics), implicated genes in CTE (including APOE, MAPT, and TMEM106B), and whether predictive genetic testing for CTE should be considered.

Keywords

chronic traumatic encephalopathy - genetics - APOE - MAPT - TMEM106B


Publication History

Article published online:
26 July 2020

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