The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Humans
  • Lipofuscin / metabolism*
  • Male
  • Muscle Spasticity / complications*
  • Muscle Spasticity / metabolism*
  • Phenotype
  • Skin / metabolism*
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / metabolism
  • Supranuclear Palsy, Progressive / complications*
  • Supranuclear Palsy, Progressive / metabolism*

Substances

  • Lipofuscin

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type