POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

Cerebellum. 2016 Oct;15(5):632-5. doi: 10.1007/s12311-016-0777-x.

Abstract

Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we describe a 60-year-old male affected by ataxia due to biallelic mutations in the mitochondrial polymerase gamma (POLG) gene in which hyperintensities of the middle cerebellar peduncles (MCP) were found. The initial suspicion of FXTAS was however ruled out by a normal CGG expansion size in the FMR1 gene. We discuss the features of late-onset POLG-A as a phenocopy of FXTAS.

Keywords: FXTAS; MCP sign; POLG.

Publication types

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

MeSH terms

  • Ataxia / diagnosis*
  • Ataxia / genetics*
  • Brain / diagnostic imaging
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Diagnosis, Differential
  • Fragile X Mental Retardation Protein / genetics
  • Humans
  • Male
  • Middle Aged

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human