Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation

Parkinsonism Relat Disord. 2020 Apr:73:52-54. doi: 10.1016/j.parkreldis.2020.03.020. Epub 2020 Mar 24.
No abstract available

Keywords: AFG3L2; Exome sequencing; Eye-of-the-tiger; SCA28; SPG7.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Dependent Proteases / genetics*
  • ATPases Associated with Diverse Cellular Activities / genetics*
  • Adult
  • Exome Sequencing
  • Humans
  • Intellectual Disability / diagnostic imaging*
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Metalloendopeptidases / genetics
  • Muscle Spasticity / diagnostic imaging*
  • Muscle Spasticity / genetics*
  • Optic Atrophy / diagnostic imaging*
  • Optic Atrophy / genetics*
  • Pedigree
  • Siblings
  • Spinocerebellar Ataxias / diagnostic imaging*
  • Spinocerebellar Ataxias / genetics*
  • Young Adult

Substances

  • ATP-Dependent Proteases
  • AFG3L2 protein, human
  • Metalloendopeptidases
  • SPG7 protein, human
  • ATPases Associated with Diverse Cellular Activities

Supplementary concepts

  • Spastic Ataxia