Epidemiologia genética da esclerose lateral amiotrófica

Abstract

Amyotrophic lateral sclerosis (ALS) is a well known rapidly progressive and fatal neurological disease, caused by the loss of motor neurons in the brain and spinal cord. Familial aggregation of ALS is considered a major risk factor for ALS. Familial ALS (FALS) is clinically and genetically heterogeneous. Seven genes and linkage to five additional gene loci have been identified so far and may either lead to ALS (ALS1-ALS8) or multisystem neurodegeneration with ALS as an occasional symptom. This work points to present a tentative classification of the “major” and “susceptibility” ALS genes, that may act as susceptibility factors for neurodegeneration in interaction with other genetic or environmental risk factors. Since mutations in ALS genes explain approximately 10% of either familial and sporadic ALS, and most remaining cases are results of the interaction of several genes and environmental factors, ALS is still a paradigm in multifactorial diseases research.