Familial ALS: less common than we think?
- 1Centre of Excellence in Neuroscience of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada
- 2Université de Montreal, Faculty of Medicine, Department of Medicine, Montreal, Quebec, Canada
- 3Research Center, CHU Sainte-Justine, Université de Montreal, Montreal, Quebec, Canada
- Correspondence to Dr Guy Rouleau, CHUM Research Centre, Notre-Dame Hospital, 1560 Sherbrooke E., Y-3633, Montreal, Quebec H2L 4M1, Canada;
Contributors VVB and GAR both drafted the manuscript.
- Received 9 June 2012
- Accepted 13 June 2012
- Published Online First 11 July 2012
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 …