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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

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. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.

α-Synucleinopathy associated with G51D SNCA mutation: A link between Parkinson’s disease and multiple system atrophy?

21 June 2013

Immunofluorescent image showing a-synuclein in green.

a-Synucleinopathies share the common feature of depositions of a-synuclein protein in cells of the brain. In Parkinson’s disease (PD) these deposits occur in neurons or their processes and are known as Lewy bodies or Lewy neurites respectively. While the hallmark feature of Multiple System Atrophy (MSA) is the localisation of a-synuclein within oligodendrocytes, which is known as glial cytoplasmic inclusions (GCIs).

Interestingly, although several mutations of the SNCA gene, which encodes the a-synuclein protein, have been found to cause PD, none have yet been identified in MSA.

This report describes the unusual clinical progression and neuropathological features in a family in which carriers of a G51D mutation of the SNCA gene develop young onset parkinsonism. The neuropathology observed in the deceased family member described here, is particularly fascinating as it shares both the cellular pathology of Parkinsonism such as the characteristic features of cell loss, a-synuclein accumulation within neurons and the distinctive GCIs of MSA. In addition a-synuclein inclusions in both cell types were abundant and widespread affecting both areas typically associated with PD and MSA and those which are generally less affected such as the striatum and both the superior and deep cortical layers. This pathology of combined cellular features of PD and MSA appears to be similar to cases reported which have A53T SNCA mutation and multiplication of the SNCA gene.

This could suggest that, like in cases of over production of a-synuclein, cases with mutations in this region of the protein could have the ability to accumulate in and/or not be cleared from, greater numbers of cells and cell types. For this reason the data described in this paper provides us with interesting insight in the mechanisms which result in the distinct pathologies of both PD and MSA.

Contributed by Dr Aoife Kiely.

Kiely, A., Asi, Y., Kara, E., Limousin, P., Ling, H., Lewis, P., Proukakis, C., Quinn, N., Lees, A., Hardy, J., Revesz, T., Houlden, H., Holton, J., 2013. a-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? Acta Neuropathol 125, 753–769.

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