ERLIN2 mutations are linked to the conversion of spastic paraplegia to amyotrophic lateral sclerosis

Takeaway

  • Both dominant and recessive mutations in ERLIN2 are associated with a spastic paraplegia (SP) to severe amyotrophic lateral sclerosis (ALS) phenotype conversion.

Why this matters

    Inheritance of ERLIN2 mutations are more complex than previously recognized; with the possibility of SP converting to a severe motor neuron disease, the prognosis of ALS should be considered before delivering genetic counselling to ERLIN2-linked families.