The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease marked by progressive degeneration of upper and lower motor neurons. Most forms of ALS associated with a suspected causal variant are inherited in an autosomal dominant manner. However, there is an important subset of autosomal recessive (AR) variants, often associated with early-onset or atypical clinical features. Advances in genetic...

Topics

• Humans
• Amyotrophic Lateral Sclerosis
• Phenotype
• Cell Cycle Proteins
• Genes, Recessive
• Membrane Transport Proteins
• Mutation
• Superoxide Dismutase-1
• Transcription Factor TFIIIA
• Proteins
• Guanine Nucleotide Exchange Factors