Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders

被引:4
|
作者
Chambers, Chelsea [1 ]
Lichten, Lauren [2 ]
Crook, Ashley [3 ,4 ]
Uhlmann, Wendy R. [5 ]
Dratch, Laynie [6 ]
机构
[1] Univ Virginia, Dept Neurol, Charlottesville, VA 22904 USA
[2] Emory Univ, Sch Med, Atlanta, GA USA
[3] Macquarie Univ, Sydney, Australia
[4] Univ Technol Syndey, Syndey, Australia
[5] Univ Michigan, Ann Arbor, MI USA
[6] Univ Penn, Philadelphia, PA USA
关键词
MEDICAL GENETICS; AMERICAN-COLLEGE; ALS; GENOMICS;
D O I
10.1212/CPJ.0000000000200201
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Purpose of Review Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorders have a strong genetic component. Genetic counselors are a limited resource, and therefore, other providers must be prepared to integrate genetic testing into their practice.Recent Findings Recent ALS/FTD studies have demonstrated that lack of family history does not preclude a genetic etiology. The benefits of a genetic diagnosis have expanded to include the potential to treat; thus, genetic testing is increasingly recommended to be offered to all persons with ALS/FTD.Summary Offering genetic testing to persons with ALS/FTD spectrum disorders should be part of routine clinical neurologic care. All genetic testing should include discussion about the medical and psychosocial implications of testing for the patient and family members. Neurologists should be prepared to facilitate this process and recognize when referral to a genetic counselor is indicated.
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页数:6
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