Amyotrophic Lateral Sclerosis Genetic Studies

Neuroscientist - Tập 21 Số 6 - Trang 599-615 - 2015
Ji He1,2,3, Marie Mangelsdorf2, Dongsheng Fan1, Perry F. Bartlett4, Matthew A. Brown3
1Department of Neurology, Peking University Third Hospital, Beijing, China
2Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia
3University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia
41Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia

Tóm tắt

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed.

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Neuroscientist

Tập 21 Số 6

599-615

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