Hereditary spastic paraplegia 46- MedGen UID:
- 473687
- •Concept ID:
- C2828721
- •
- Disease or Syndrome
Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).