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Amyotrophic lateral sclerosis (ALS) is an adult onset motor neuron disease that affects both upper and lower motor neurons. The disease progresses rapidly, with 70%–80% of individuals dying within 5 years, typically from respiratory failure.1 Familial cases of ALS (FALS), where there is co-occurrence of ALS in first-, second- or third-degree relatives, have been reported to represent about 10% of all cases.2 However, because familial and sporadic ALS cases are clinically undistinguishable with the exception of the presence of some kind of family history of the disease in relatives,3 some seemingly sporadic cases could be of familial origin. Examples of situations where absence of family history may lead one to falsely conclude that the case is sporadic, includes very small families, instances where the patient is not aware of the health status of their relatives, or if some family …
Linked article 302897.R2
Competing interests None.
Provenance and peer review Commissioned; internally peer reviewed.