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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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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

GBA neurons

GBA and mitochondria

Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...

Image of alpha-synuclein

Alpha-synuclein in LRRK2 brains

First author Adamantios Mamais tells us about his recent publication in Neurobiology of Disease: At the Queen Square Brain Bank (part of the UCL Institute of Neurology) we hold a large collection of post-mortem human brain tissue from patients with neurodegenerative diseases including Parkinson’s disease (PD); a debilitating neurological disorder that affects the central nervous system. In the United States alone about 50,000 new cases are reported every year. The main symptoms include tremor, slow movement, rigid limbs and a shuffling gait while these worsen with time. More...

Successes of Deep Brain Stimulation for patients with Parkinson's disease

15 April 2011

Unit of Functional Neurosurgery team

A team, led by Dr Tom Foltynie, from UCL Institute of Neurology’s Unit of Functional Neurosurgery recently published a study in the Journal of Neurology, Neurosurgery and Psychiatry, highlighting the positive results of Subthalamic Nucleus Deep Brain Stimulation (STN DBS) surgery on patients with Parkinson’s disease. Specifically the study looked at the outcome of 79 consecutive patients who underwent the surgery at the National Hospital of Neurology and Neurosurgery, Queen Square, showing that the surgery was both safe and beneficial to Parkinson’s patients.

The team demonstrated that at their 12 month follow-up visits, patients' symptoms and signs of Parkinson's had improved by 55% compared with their disability at start of the study. These figures compare favourably with all previously published series of STN DBS studies and justify the novel approach used by the researchers – that of “magnetic resonance image guided targeting." This approach allows researchers to ensure that electrodes are placed precisely and accurately using only a single trajectory through each hemisphere of the patient's brain.

Most importantly the team showed that by using this approach, the safety of performing STN DBS at Queen Square is second to none as not a single patient experienced any form of haemorrhage within the brain. An editorial accompanying this paper written by Professor Paul Krack in Grenoble, France described these data as "a new Benchmark in STN DBS".

Acknowledgements: The Unit of Functional Neurosurgery at the UCL-IoN is supported by the Parkinson Appeal and the Edmond J. Safra Philanthropic Foundation

Image: The team at the Unit of Functional Neurosurgery

Media Contact: Alison Brindle


Page last modified on 15 apr 11 15:57