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Parkinsonism and Lysosomal Storage Disorders share etiology
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. More...
Video: Parkinson's UK site visit for the Targeting LRRK2 project
LRRK2 – pronounced lark 2 – is the most common gene associated with
Parkinson’s. A mutant form of LRRK2 can cause the death of nerve cells,
and blocking this form of LRRK2 from working can prevent this from
happening. Before we can use this knowledge to develop treatments we
need to fill in the gaps in our understanding of the role LRRK2 plays
when it’s healthy, and of the different proteins it interacts with along
the way within the nerve cell.
Figuring out how LRRK2 works and
how to change this is a promising route to developing novel therapies
for the treatment and ultimately cure for Parkinson’s. Although a long
way off, we hope that these can ultimately be tested in the clinic to
see if we can slow down or alter the progress of the condition.
More...
Successes of Deep Brain Stimulation for patients with Parkinson's disease
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. More...
Recordings in Parkinson's disease patients reveal details of communication between deep and superficial brain structures
Deep brain stimulation (DBS) is a form of surgery that is used to treat some of the symptoms of advanced Parkinson's disease. It involves the implantation of wires, with 4 electrodes at their tip to deep brain structures, most commonly an area called ‘the subthalamic nucleus’ (STN) in the two sides of the brain. Following the surgery for a short period of time the other end of the wire implanted in the brain is accessible for recording. For brain researchers this offers a unique opportunity to record invasively the activity of the areas in the human brain not easily accessible to non-invasive methods. More...
Five new Parkinson's genes identified
Parkinson’s Disease (PD) is a common neurodegenerative disease, affecting >2% of people over the age of 75 years. Most individuals develop the disorder in their 60’s and 70’s. In the last decade it has become clear that there is a substantial genetic component to the disorder. More...
- UK Parkinson's Disease Consortium (UKPDC) is a group of world-leading genetic, biochemical, clinical and other scientific researchers who possess complementary expertise, technology and other resources to identify and tackle the causes of Parkinson’s disease (PD).
- Parkinson's disease is a common, disabling and currently incurable neurodegenerative condition that affects over 2% of people over the age of 75.
- There has been tremendous progress in recent years in understanding better the possible causes of Parkinson's disease.
- This has been principally driven by genetic discoveries of the genes/molecules that determine a higher risk factor for developing Parkinson's disease.
- We now have the opportunity to harness these discoveries into a more complete understanding of neurodegeneration (cell death) and dysfunction in this disease and to fully characterise the common clinical traits so that Parkinson's disease treatment can be realised.
We have three main goals:
- To undertake comprehensive genetic analysis of a large number of well characterised Parkinson's disease patients to identify rare variants and novel genes that cause and predispose to the disease.
- To understand the biochemistry of existing and novel causative Parkinson's disease gene products, and their pathways, to describe the regulation and function of these proteins.
- To collate the clinical traits of a large group of at-risk patients and to define the early Parkinson's disease symptoms, so that disease modifying treatments could be administered as early as possible.
- This research should yield crucial new knowledge of the pathways leading to neurodegeneration and shed insight into the causation of Parkinson's disease.
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Page last modified on 12 may 11 13:31
