SPG5 and multiple sclerosis: clinical and genetic overlap?

  title={SPG5 and multiple sclerosis: clinical and genetic overlap?},
  author={Chiara Criscuolo and Rosa Carbone and Maria Chiara Di Lieto and Silvio Peluso and Anna Guacci and Alessandro Filla and Mario Quarantelli and Roberta Lanzillo and Vincenzo Brescia Morra and Giuseppe De Michele},
  journal={Acta neurologica Scandinavica},
  volume={133 6},
BACKGROUND Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7α-hydroxylation. Oxysterol/cholestenoic acids pool plays a role in motor neuron survival and immune response. SPG5 is characterized by white matter abnormalities at brain resonance imaging (MRI). In view of clinical presentation and MRI findings, multiple sclerosis (MS) is a possible differential diagnosis of SPG5. This… CONTINUE READING