Defects in SOD1 are the cause of amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]. ALS1 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The aetiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms.The diagnosis of ALS is based on clinical features, EMG and exclusion of other health conditions with related symptoms. Once the diagnosis of ALS has been established in an individual testing of the SOD1 gene can be used in individuals with a positive or incomplete family history to establish a specific diagnosis. Such testing must be offered with the caveat that only 20% of individuals with familial ALS (and less with unknown family history) will have identifiable mutations, i.e. testing should be offered in the context of adequate genetic counselling.
Genetics - Molecular Pathology
MOLP
ALS
Amyotrophic Lateral Sclerosis
4 weeks
4583