NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

Eur J Med Genet. 2013 Sep;56(9):506-9. doi: 10.1016/j.ejmg.2013.07.003. Epub 2013 Jul 30.


Benign hereditary chorea caused by mutations in the NK2 homeobox 1 gene (NKX2-1), shares clinical features with ataxic and dyskinetic cerebral palsy (CP), resulting in the possibility of misdiagnosis. A father and his two children were considered to have ataxic CP until a possible diagnosis of benign familial chorea was made in the children in early teenage. The father's neurological condition had not been appreciated prior to examination of the affected son. Whole exome sequencing of blood derived DNA and bioinformatics analysis were performed. A 7 bp deletion in exon 1 of NKX2-1, resulting in a frame shift and creation of a premature termination codon, was identified in all affected individuals. Screening of 60 unrelated individuals with a diagnosis of dyskinetic or ataxic CP did not identify NKX2-1 mutations. BHC can be confused with ataxic and dyskinetic CP. Occasionally these children have a mutation in NKX2-1.

Keywords: Ataxic cerebral palsy; Benign hereditary chorea; Dyskinetic cerebral palsy; NKX2-1.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Cerebral Palsy / diagnosis
  • Cerebral Palsy / genetics*
  • Exome
  • Female
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pedigree*
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics*


  • Nuclear Proteins
  • Thyroid Nuclear Factor 1
  • Transcription Factors

Supplementary concepts

  • Cerebral Palsy, Ataxic, Autosomal Recessive