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Review
. 2012 Oct 16;79(16):1732-9.
doi: 10.1212/WNL.0b013e31826e9b1d.

Presymptomatic studies in ALS: rationale, challenges, and approach

Michael Benatar  1 , Joanne Wuu
Affiliations
Review

Presymptomatic studies in ALS: rationale, challenges, and approach

Michael Benatar et al. Neurology. .
No abstract available

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Figures

Figure 1
Figure 1. Schematic illustration of the full temporal course of the disease process in amyotrophic lateral sclerosis, showing different time periods during which environmental factors might be relevant
During period A, prior to the onset of disease, environmental exposures might act, alone or in conjunction with other factors, either to cause disease or to modify the risk and timing of disease onset. During period B, between the onset of disease and the appearance of symptoms, environmental exposures might modify the course of the disease process, hastening or slowing the rate of progression and the latency to onset of symptoms, for example. Environmental exposures during this period cannot, by definition, cause disease since they postdate the onset of disease. Presymptomatic studies in amyotrophic lateral sclerosis (e.g., Pre-fALS study) offer an opportunity to delineate the distinction between periods A and B. During period C, after symptom onset, environmental exposures might also modify the course of disease, either for better or for worse.
Figure 2
Figure 2. Pre-Symptomatic Familial ALS study schema showing recruitment of presymptomatic individuals from familial amyotrophic lateral sclerosis pedigrees in which the genetic cause of amyotrophic lateral sclerosis is known
Family members known not to carry the mutated gene (“known gene−”) are excluded. Presymptomatic individuals known to carry the mutated gene (“known gene+”) are directly enrolled in longitudinal follow-up. Other presymptomatic individuals with a high likelihood of having inherited the mutated gene are offered genetic testing. Those who elect to learn the results of genetic testing (“disclosure”) are offered genetic counseling, and only gene carriers (“gene+”) are enrolled in longitudinal follow-up. For those who elect not to learn the results of genetic testing (“nondisclosure”), both carriers and noncarriers of mutated gene (“gene +/−”) are enrolled in the Pre-symptomatic Familial ALS (Pre-fALS) cohort. fALS = familial amyotrophic lateral sclerosis.
See this image and copyright information in PMC

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