New study links missing piece of DNA in Parkinson’s patients to genetic disorder

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Author: Parkinson's Life editorsPublished: 4 May 2016

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Researchers have found a link between Parkinson’s disease and a genetic disorder that can cause heart defects, palatal abnormalities and learning disabilities.

The team at University College London, Institute of Neurology, has discovered the same chromosome deletion – known as ‘22q’ – that occurs in DiGeorge syndrome also exists in Parkinson’s disease.

This particular ‘chromosome deletion’ has up until now normally been associated with DiGeorge syndrome, which is usually noticeable at birth and can cause heart defects, problems with the mouth, feeding and hearing, and multiple other diseases.

Professor Nicholas Wood, consultant neurologist and neuroscience programme director of UCLH NIHR Biomedical Research Centre, said: “Our findings suggest there may be some Parkinson’s patients who also have undiagnosed DiGeorge disease. Interestingly, this deletion has also been reported in schizophrenia, which, like Parkinson’s, involves dopamine signalling. The potential links and common pathophysiological mechanisms are very exciting indeed.”

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