Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management

Jennifer Roggenbuck; Jamie C Fong

doi:10.1016/j.cll.2020.05.002

Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management

Clin Lab Med. 2020 Sep;40(3):271-287. doi: 10.1016/j.cll.2020.05.002. Epub 2020 Jul 2.

Authors

Jennifer Roggenbuck¹, Jamie C Fong²

Affiliations

¹ Division of Human Genetics, Department of Neurology, The Ohio State University, 2012 Kenny Road, Columbus, OH 43221, USA. Electronic address: jennifer.roggenbuck@osumc.edu.
² Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS: BCM115, Houston, TX 77030, USA.

PMID: 32718499
DOI: 10.1016/j.cll.2020.05.002

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating neurodegenerative disorders that share clinical, pathologic, and genetic features. Persons and families affected by these conditions frequently question why they developed the disease, the expected disease course, treatment options, and the likelihood that family members will be affected. Genetic testing has the potential to answers these important questions. Despite the progress in gene discovery, the offer of genetic testing is not yet "standard of care" in ALS and FTD clinics. The authors review the current genetic landscape and present recommendations for the laboratory genetic evaluation of persons with these conditions.

Keywords: ALS; C9orf72; FTD; Genetic counseling; Genetic testing.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Amyotrophic Lateral Sclerosis* / diagnosis
Amyotrophic Lateral Sclerosis* / genetics
Frontotemporal Dementia* / diagnosis
Frontotemporal Dementia* / genetics
Genetic Counseling
Genetic Testing*
Humans