Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation

Parkinsonism Relat Disord. 2017 Jul:40:80-82. doi: 10.1016/j.parkreldis.2017.04.009. Epub 2017 Apr 18.
No abstract available

Keywords: COL4A1; Cranial MRI; Dystonia; Neurodegeneration with iron accumulation (NBIA); Stroke in young adults.

Publication types

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

MeSH terms

  • Adult
  • Caudate Nucleus / diagnostic imaging
  • Caudate Nucleus / pathology*
  • Cerebral Hemorrhage / complications*
  • Cerebral Hemorrhage / diagnostic imaging
  • Cerebral Hemorrhage / genetics*
  • Collagen Type IV / genetics*
  • DNA Mutational Analysis
  • Dystonic Disorders / etiology*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Tomography, Emission-Computed, Single-Photon

Substances

  • COL4A1 protein, human
  • Collagen Type IV