The risk to relatives of patients with sporadic amyotrophic lateral sclerosis
Open Access
- 20 September 2011
- journal article
- research article
- Published by Oxford University Press (OUP) in Brain
- Vol. 134 (12), 3454-3457
- https://doi.org/10.1093/brain/awr248
Abstract
Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to determine the risk of amyotrophic lateral sclerosis to first degree relatives of patients with sporadic amyotrophic lateral sclerosis attending a specialist clinic. Case records of patients with sporadic amyotrophic lateral sclerosis seen at a tertiary referral centre over a 16-year period were reviewed, and pedigree structures extracted. All individuals who had originally presented with sporadic amyotrophic lateral sclerosis, but who subsequently had an affected first degree relative, were identified. Calculations were age-adjusted using clinic population demographics. Probands (n = 1502), full siblings (n = 1622) and full offspring (n = 1545) were identified. Eight of the siblings and 18 offspring had developed amyotrophic lateral sclerosis. The unadjusted risk of amyotrophic lateral sclerosis over the observation period was 0.5% for siblings and 1.0% for offspring. Age information was available for 476 siblings and 824 offspring. For this subset, the crude incidence of amyotrophic lateral sclerosis was 0.11% per year (0.05–0.21%) in siblings and 0.11% per year (0.06–0.19%) in offspring, and the clinic age-adjusted incidence rate was 0.12% per year (0.04–0.21%) in siblings. By age 85, siblings were found to have an 8-fold increased risk of amyotrophic lateral sclerosis, in comparison to the background population. In practice, this means the risk of remaining unaffected by age 85 dropped from 99.7% to 97.6%. Relatives of people with sporadic amyotrophic lateral sclerosis have a small but definite increased risk of being affected.This publication has 15 references indexed in Scilit:
- Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysisJournal of Neurology, Neurosurgery & Psychiatry, 2010
- An estimate of amyotrophic lateral sclerosis heritability using twin dataJournal of Neurology, Neurosurgery & Psychiatry, 2010
- SNCA variants and multiple system atrophyAnnals of Neurology, 2010
- Familial aggregation in amyotrophic lateral sclerosisAnnals of Neurology, 2009
- Familial aggregation of amyotrophic lateral sclerosisAnnals of Neurology, 2009
- Aggregation of neurodegenerative disease in ALS kindredsAmyotrophic Lateral Sclerosis, 2009
- Clinical phenotypes and natural progression for motor neuron disease: Analysis from an Australian databaseAmyotrophic Lateral Sclerosis, 2009
- Disease progression in amyotrophic lateral sclerosis: Predictors of survivalMuscle & Nerve, 2002
- Limitations of inferences from observational databases in amyotrophic lateral sclerosis: all that glitters is not goldAmyotrophic Lateral Sclerosis, 2002
- The inheritance of liability to certain diseases, estimated from the incidence among relativesAnnals of Human Genetics, 1965