Familial essential tremor is not associated with SCA-12 mutation in southern Italy

Mov Disord. 2002 Jul;17(4):837-8. doi: 10.1002/mds.10191.

Abstract

We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA-12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA-12 are distinct diseases.

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 5*
  • DNA Mutational Analysis
  • Essential Tremor / diagnosis
  • Essential Tremor / genetics*
  • Female
  • Genetics, Population
  • Humans
  • Italy
  • Male
  • Phosphoprotein Phosphatases / genetics
  • Point Mutation / genetics*
  • Protein Phosphatase 2
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*
  • Trinucleotide Repeats / genetics

Substances

  • PPP2R1B protein, human
  • Ppp2r1b protein, mouse
  • Phosphoprotein Phosphatases
  • Protein Phosphatase 2