Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

Cerebellum. 2017 Dec;16(5-6):979-985. doi: 10.1007/s12311-017-0870-9.
No abstract available

Publication types

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

MeSH terms

  • ATP-Dependent Proteases / genetics*
  • ATPases Associated with Diverse Cellular Activities / genetics*
  • Adult
  • Brain / diagnostic imaging
  • Cognition*
  • Family
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Phenotype
  • Pilot Projects
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / diagnostic imaging
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / physiopathology
  • Spinocerebellar Ataxias / psychology

Substances

  • ATP-Dependent Proteases
  • AFG3L2 protein, human
  • ATPases Associated with Diverse Cellular Activities

Supplementary concepts

  • Spinocerebellar ataxia 28