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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.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Parkinsonism and Lysosomal Storage Disorders share etiology

5 March 2012

There are several genes in which we now know that mutations cause Parkinson's disease (PD). These range from fairly frequent mutations, like those in LRRK2, to rarer ones such as those in SNCA.

One of the rare genes is ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), a form of autosomal recessive hereditary parkinsonism with dementia and juvenile onset. Although little is known about the function of this gene, it is suspected to act in the lysosomal membrane, and to be responsible for the maintenance of lysosomal pH. The lysosomal pathway has, in the last few years, attracted interest as a novel mechanism involved in the pathogenesis of PD, following not only the identification of ATP13A2 mutations, but also the risk conferred by GBA mutations for the development of this disorder.

A team of researchers led by Drs. Rita Guerreiro and Jose Bras at UCL has identified mutations in ATP13A2 as a cause of a separate disease entity called Neuronal Ceroid-Lipofuscinosis (NCL) in a large family from Belgium.

Figure: Identification of a homozygous mutation in ATP13A2

Figure: Identification of a homozygous mutation in ATP13A2.

NCLs are a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized by the intracellular accumulation of autofluorescent lipopigment storage material. It is well known that the lysosome plays a pivotal role in these disorders.

These results show undisputable evidence that the lysosomal pathway plays a role in the pathogenesis of parkinsonian phenotypes and further suggest that KRS and NCL may share pathobiological features.

Reference:

Mutation of the Parkinsonism Gene ATP13A2 Causes Neuronal Ceroid-Lipofuscinosis, Hum. Mol. Genet., 2 March 2012, doi: 10.1093/hmg/dds089

Rita Guerreiro's profile

Jose Bras' profile

Page last modified on 05 mar 12 12:25