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

Gai McMichael, Eric Haan, Alison Gardner, Tzu Yap, Suzanna Thompson, Robert Ouvrier, Russell Dale, Jozef Gecz, Alastair MacLennan

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    16 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)506-509
    Number of pages4
    JournalEuropean Journal of Medical Genetics
    Issue number9
    Publication statusPublished - Sept 2013


    • Ataxic cerebral palsy
    • Benign hereditary chorea
    • Dyskinetic cerebral palsy
    • NKX2-1


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