Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability

J Neurol. 2005 Dec;252(12):1546-8. doi: 10.1007/s00415-005-0880-2.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter

MeSH terms

  • Adult
  • Basal Ganglia / diagnostic imaging
  • Basal Ganglia / pathology
  • Cerebral Cortex / diagnostic imaging
  • Cerebral Cortex / pathology
  • DNA Mutational Analysis
  • Family Health*
  • Humans
  • Machado-Joseph Disease / diagnostic imaging
  • Machado-Joseph Disease / genetics*
  • Machado-Joseph Disease / pathology
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Proline / genetics*
  • Serine / genetics*
  • Tomography, Emission-Computed, Single-Photon / methods
  • tau Proteins / genetics*

Substances

  • tau Proteins
  • Serine
  • Proline