The genetics of amyotrophic lateral sclerosis.
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.
Kuźma-Kozakiewicz
Magdalena
M
Katedra i Klinika Neurologii, Warszawski Uniwersytet Medyczny, ul. Banacha 1a, 02-097 Warszawa. magdalena_kuzma@yahoo.com
Kwieciński
Hubert
H
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics; D012307:Risk Factors; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D033921:Vesicular Transport Proteins / Q000235:genetics
D004268:DNA-Binding Proteins; D034702:RNA-Binding Protein FUS; C000606290:SOD1 protein, human; C496748:VAPB protein, human; D033921:Vesicular Transport Proteins; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1