UCL Institute of Neurology


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Parkinson's chromosome deletion linked to other genetic disorders

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Genomic location of the 22q11.2 deletions

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders.This study analysed multiple datasets, including significant contribution from UKPD study and the IPDGC consortium, both had received funding from The Wellcome Trust/MRC. This study found people with Parkinson’s disease had a piece of DNA missing from chromosome 22q. This particular ‘chromosome deletion’ has up until now normally been associated with DiGeorge syndrome, a genetic disorder usually noticeable at birth that can cause heart defects, problems with the mouth, feeding and hearing, and multiple other diseases.

Study shows abnormal protein aggregation causes inherited neuropathy: potential new target for therapy

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axonal degneration

A collaboration between the Medical Research Council (MRC) Centre for Neuromuscular Diseases at UCL Institute of Neurology, the Medical University Vienna and the John P. Hussman Institute for Human Genetics, University of Miami has identified abnormal protein aggregation secondary to mutations in the Neurofilament heavy chain as a cause of autosomal Dominant Charcot Marie Tooth disease type 2 (CMT2).

Researchers discover gene mutation that causes chorea in childhood

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MRI scans

Mutations in a gene that helps brain cells communicate with one another can cause chorea in childhood, according to research led by UCL Institute of Neurology, published in the American Journal of Human Genetics.

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