Article
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
European journal of medical genetics - 1 Sept 2013
McMichael Gai, Haan Eric, Gardner Alison, Yap Tzu Ying, Thompson Suzanna, Ouvrier Robert, Dale Russell C, Gecz Jozef, Maclennan Alastair H
Abstract excerpt
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...
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