The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

Parkinsonism Relat Disord. 2007 May;13(4):246-9. doi: 10.1016/j.parkreldis.2006.04.009. Epub 2006 Jun 21.

Abstract

Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with a phenotype not previously reported, which consisted of progressive ataxia, autonomic dysfunction, parkinsonism, supranuclear palsy and cognitive impairment. Cerebrospinal fluid study and 18F-dopa PET scanning demonstrated dopamine deficiency and nigrostrital degeneration. This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology
  • Cognition Disorders / etiology*
  • Cognition Disorders / pathology
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Multiple System Atrophy / etiology*
  • Multiple System Atrophy / pathology
  • Phenotype*
  • Positron-Emission Tomography / methods
  • Spinocerebellar Ataxias / complications*
  • TATA Box
  • TATA-Box Binding Protein
  • Trinucleotide Repeat Expansion

Substances

  • TATA-Box Binding Protein
  • TBP protein, human