FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Acta Neuropathol Commun. 2014 Nov 26:2:162. doi: 10.1186/s40478-014-0162-2.

Abstract

para

Electronic supplementary material: The online version of this article (doi:10.1186/s40478-014-0162-2) contains supplementary material, which is available to authorized users.

Publication types

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

MeSH terms

  • Adrenal Glands / metabolism
  • Adrenal Glands / pathology
  • Ataxia / genetics
  • Ataxia / metabolism*
  • Ataxia / pathology*
  • Brain / metabolism
  • Brain / pathology
  • Female
  • Fragile X Mental Retardation Protein / analysis*
  • Fragile X Mental Retardation Protein / chemistry
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / metabolism*
  • Fragile X Syndrome / pathology*
  • Heterozygote
  • Humans
  • Intranuclear Inclusion Bodies
  • Kidney / metabolism
  • Kidney / pathology
  • Male
  • Myocardium / metabolism
  • Myocardium / pathology
  • Thyroid Gland / metabolism
  • Thyroid Gland / pathology
  • Tremor / genetics
  • Tremor / metabolism*
  • Tremor / pathology*
  • Ubiquitin / metabolism

Substances

  • FMR1 protein, human
  • Ubiquitin
  • Fragile X Mental Retardation Protein

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome