Familial aggregation of amyotrophic lateral sclerosis

Genetics of Familial Amyotrophic Lateral Sclerosis

Genetics of familial amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is an adultonset, rapidly progressive neurodegenerative disorder, caused by the selective loss of upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord. Neuronal degeneration leads to weakness, muscular atrophy, and spasticity that evolve to paralysis. The typical age at onset is between 50 and 60 years, and the global incidence is 1...

Complexity of familial amyotrophic lateral sclerosis

Genetics of familial amyotrophic lateral sclerosis.

The completion of the Human Genome Project, together with a better understanding of some of the emerging genetic patterns of human disease, has enabled a thorough examination of the most appropriate genetic models for amyotrophic lateral sclerosis (ALS). The pathology and epidemiology of ALS have been intensively studied since Adar, Charcot, and Duchenne first described the disease in the 1860 ...

Familial amyotrophic lateral sclerosis, a historical perspective

Amyotrophic lateral sclerosis is a fatal neurodegenerative disease of the upper and lower motor neuron of unknown etiology. Although a familial cause for this disease has been suspected early one, it is only in the past two decades that advances in modern genetics led to the identification of more than 10 genes linked to familial ALS and helped us understand some of the complex genetic and envi...