The genetics of amyotrophic lateral sclerosis
Kuźma-Kozakiewicz, M.; Kwieciński, H.
Neurologia i Neurochirurgia Polska 43(6): 538-549
2009
ISSN/ISBN: 0028-3843 PMID: 20054757 Document Number: 635225
Amyotrophic lateral sclerosis (ALS) is a devastating disorder of still unknown aetiology and pathogenesis. It is characterized by a progressive and selective loss of motor neurons in the brain and spinal cord. The majority of ALS cases (90%) are sporadic and in approximately 10% the disorder is familial. In the light of recent studies, the familial forms might however be more frequent. The article describes mutations of genes linked to both sporadic and familial ALS and the role of the proteins they encode.