spastic paraplegia type 2 (X-linked)

Introduction

See hereditary spastic paraplegia

Genetics

• X-linked
• associated with mutations in PLP1 gene

Clinical manifestations

• spastic gait
• hyperreflexia
• in some patients, complicating features include:
  • nystagmus
  • dysarthria
  • sensory disturbance
  • mental retardation
  • optic atrophy

Laboratory

• PLP1 gene mutation

More general terms

• hereditary spastic paraplegia (familial spastic paralysis)

Database

• OMIM: https://mirror.omim.org/entry/312920