Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation

Cerebellum. 2016 Dec;15(6):829-831. doi: 10.1007/s12311-015-0749-6.

Abstract

Progressive ataxia with palatal tremor (PAPT) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. Etiologies include acquired posterior fossa lesions (e.g. tumors, superficial siderosis, and inflammatory diseases) and genetic disorders, such as glial fibrillary acidic protein (GFAP) and polymerase gamma (POLG) mutations. We describe the case of a 52-year-old man who developed pure progressive ataxia and palatal tremor. Genetic analysis has shown that he is compound heterozygote for a known pathogenic (W748S) and a novel POLG variant (I1185N). Patients with POLG recessive mutations usually manifest a more complex clinical picture, including polyneuropathy and epilepsy; our case emphasizes the need to consider a genetic origin in a seemingly sporadic and pure PAPT.

Keywords: Ataxia; Cerebellar disorders; Mitochondrial disorders; Polymerase gamma.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / diagnostic imaging
  • Ataxia / genetics*
  • Brain / diagnostic imaging
  • Cerebellar Diseases / diagnostic imaging
  • Cerebellar Diseases / genetics*
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Diseases / diagnostic imaging
  • Mitochondrial Diseases / genetics*
  • Mutation*
  • Phenotype
  • Syndrome
  • Tremor / diagnostic imaging
  • Tremor / genetics*

Substances

  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human