Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

J Med Genet. 2004 Apr;41(4):e43. doi: 10.1136/jmg.2003.012518.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Alleles
  • Astrocytes / ultrastructure
  • Ataxia / genetics*
  • Ataxia / pathology
  • Brain / cytology
  • Brain / ultrastructure*
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / ultrastructure
  • Humans
  • Intranuclear Inclusion Bodies / ultrastructure*
  • Male
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Neurons / ultrastructure
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins*
  • Tremor / genetics*
  • Tremor / pathology
  • Trinucleotide Repeat Expansion

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA, Messenger
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein