C9orf72

Target entity: C9orf72
Context triple: [ALS, associatedWithGene, C9orf72]

• A. APOE ε4 allele
  The APOE ε4 allele is a genetic variant of the apolipoprotein E gene that significantly increases an individual's susceptibility to late-onset Alzheimer's disease.
• B. spinal muscular atrophy
  Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
• C. Spinraza
  Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
• D. Protogeneia
  Protogeneia is a figure in Greek mythology, traditionally regarded as the daughter of Deucalion and Pyrrha and associated with the earliest generations of humankind after the great flood.
• E. ALS
  ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
• F. None of above. chosen
• G. Unsure - the case is ambiguous/there is not enough information to decide.

Target entity: C9orf72
Target entity description: C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

• A. APOE ε4 allele
  The APOE ε4 allele is a genetic variant of the apolipoprotein E gene that significantly increases an individual's susceptibility to late-onset Alzheimer's disease.
• B. spinal muscular atrophy
  Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
• C. Spinraza
  Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
• D. Protogeneia
  Protogeneia is a figure in Greek mythology, traditionally regarded as the daughter of Deucalion and Pyrrha and associated with the earliest generations of humankind after the great flood.
• E. ALS
  ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
• F. None of above. chosen