Distinct neurological disorders with C9orf72 mutations: genetics, pathogenesis, and therapy.

Abstract excerpt

The G4C2 repeat expansion within C9orf72 has been recently identified as the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. This mutation has also been detected in a variety of other neurological diseases with distinct clinical manifestations. The exact mechanisms of how this mutation leads to the wide spectrum of clinical syndromes remain unknown. A series of molecular...

Topics

• Amyotrophic Lateral Sclerosis
• Animals
• C9orf72 Protein
• Frontotemporal Dementia
• Humans
• Mutation
• Phenotype
• Proteins