Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Family*
  • Female
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Muscle Spasticity / diagnosis
  • Muscle Spasticity / genetics*
  • Muscle Spasticity / physiopathology
  • Mutation*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Optic Atrophy / physiopathology
  • Pedigree
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • STUB1 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Spastic Ataxia