Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family

Neurology. 2006 Nov 14;67(9):1701-3. doi: 10.1212/01.wnl.0000242740.01273.00.

Abstract

We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease-like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members.

Publication types

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

MeSH terms

  • Adult
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Brain / pathology
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Huntington Disease / diagnosis*
  • Inheritance Patterns
  • Male
  • Middle Aged
  • Mutation / genetics
  • Pedigree
  • Phenotype
  • Spinocerebellar Ataxias / diagnosis*
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology
  • Syndrome
  • TATA-Box Binding Protein / genetics*
  • Trinucleotide Repeat Expansion / genetics

Substances

  • TATA-Box Binding Protein
  • TBP protein, human