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Expanded phenotype in a patient with spastic paraplegia 7.

Jennifer M GassPatrick R BlackburnJessica JacksonSarah MacklinJay van GerpenPaldeep S Atwal
Published in: Clinical case reports (2017)
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
Keyphrases
  • cerebral palsy
  • botulinum toxin
  • upper limb
  • case report
  • small molecule
  • spinal cord injury
  • high throughput
  • copy number
  • dna methylation
  • single cell