Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS

Clin Genet. 2014 Oct;86(4):396-7. doi: 10.1111/cge.12295. Epub 2013 Oct 25.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Base Sequence / genetics
  • Female
  • Heat-Shock Proteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Spasticity / diagnosis
  • Muscle Spasticity / diagnostic imaging
  • Muscle Spasticity / genetics*
  • Muscle Spasticity / pathology
  • Pathology, Molecular*
  • Pedigree
  • Radiography
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / diagnostic imaging
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / pathology

Substances

  • Heat-Shock Proteins
  • SACS protein, human

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type