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Welcome to Our Parkinson's Place


I copy news articles pertaining to research, news and information for Parkinson's disease, Dementia, the Brain, Depression and Parkinson's with Dystonia. I also post about Fundraising for Parkinson's disease and events. I try to be up-to-date as possible. I have Parkinson's
diseases as well and thought it would be nice to have a place where
updated news is in one place. That is why I began this blog.
I am not responsible for it's contents, I am just a copier of information searched on the computer. Please understand the copies are just that, copies and at times, I am unable to enlarge the wording or keep it uniformed as I wish. This is for you to read and to always keep an open mind.
Please discuss this with your doctor, should you have any questions, or concerns. Never do anything without talking to your doctor. I do not make any money from this website. I volunteer my time to help all of us to be informed. Please No advertisers, and No Information about Herbal treatments. This is a free site for all.
Thank you.


Saturday, March 11, 2017

Despite Parkinson's, these Riverside students are still dancing

By ALICIA ROBINSON / STAFF WRITER
March 10, 2017

People move across the floor at Riverside Ballet Arts studio Tuesday, March 7, at a dance class for people with Parkinson's disease, multiple sclerosis and other illnesses that affect movement.


The men and women who come to Glenda Carhart's Riverside studio for a weekly class might not be pegged as dancers.
Some are well past middle age, they may come with halting steps or pushing a walker, and most will need a rest break after a few turns across the floor.
But for these students, who have Parkinson's disease or multiple sclerosis, listening to the music and going through the movements is a triumph of will, an expression of joy and a way of fighting back.
Carol Higgins, a 71-year-old Riverside resident, has danced off and on since she was a young girl – ballet, ballroom and even belly dancing.
She got a Parkinson's diagnosis about eight years ago.
"I was told there was nothing I could do, I would just gradually get worse and they would give me more medication and that's how that would go, which is pretty devastating when you love to dance," she said.
Researchers are exploring exactly how and why movement to music helps Parkinson's symptoms, easing tremors and allowing people to move less stiffly. But they already know it works.
A Brooklyn dance company has been offering classes and training dance teachers since 2001, and its program has been replicated in 43 states and 16 countries.
Through Carhart's studio, Riverside Ballet Arts, the program has now come to the Inland area.
"My symptoms have definitely improved," Higgins said. "The fact that you can do something to help yourself is pretty exciting."
'Serendipity'
A classically trained dancer who performed with the National Ballet of Canada, Carhart has run Riverside Ballet Arts since 1984.
Higgins, a former administrator at Riverside Ballet Arts who had also taken classes there, told Carhart about her Parkinson’s disease. Then, Carhart’s daughter, who also had helped run the studio, was diagnosed with multiple sclerosis.
Carhart had heard about “Dance for PD,” a program of the New York-based Mark Morris Dance Group. So when she got an email about it, she thought, “It was serendipity, big time, and I figured OK, I’m supposed to be doing this.”
Carhart took an online course and went to Brooklyn in November for training. She’s been offering free classes locally since January, including one every Tuesday at her Sycamore Canyon studio.
http://www.pe.com/articles/dance-827169-disease-gives.html

The Trews headline Hamilton's Let's Shake gala fundraiser for Parkinson's

Mar 10, 2017 03:53 by Gord Bowes

April 28 event is fifth organized by Kim Petrie

Fitness coach Jeremy White spots Kim Petrie during one of her five weekly workouts at John Savitis Lean & Fit as she increases her fitness to stave off the effects of Parkinson’s.


This year’s Let’s Shake fundraiser for Parkinson’s research has an extra boost of star power.
The Trews are the headline attraction at the fifth annual event, being held April 28 at Michelangelo’s Banquet Hall.
Landing the Canadian rockers has been a goal of organizer Kim Petrie, but the band’s schedule hasn’t been in sync with her fundraiser.
“I’ve tried for the last two or three years and it never worked out, but this year everything lined up,” she said.
“It’s going to be an up-close and personal event, because of the venue.”
It’s The Trews’ only Golden Horseshoe stop so far in 2017.
Petrie, 51, started Let’s Shake following her Parkinson’s diagnosis in 2011. Because of her age, she focuses on the early onset aspect of the disease because, despite the publicity given to it by actor Michael J. Fox, the public doesn’t understand that Parkinson’s hits people well before their golden years.
“Their view is still that it’s an old man’s disease,” she said.


Petrie said she is doing well and continuing a physical conditioning program five days a week that has somewhat slowed progression of the disease.
“Still, the Parkinson’s is there and it’s knocking at my door every day,” she said.
“I have good days and bad days, and I keep on going. That’s all I can do.”
This year’s event falls on the anniversary of the date she was diagnosed six years ago.
Over the years, Let’s Shake has raised more than $150,000 for research.
It has helped, said Petrie.
Neurologist Dr. Mandar Jog “has done some amazing research and has a couple of very big success stories that he’s going to share at the event in terms of where the money has gone and what he’s been able to do,” said Petrie. “We’re pretty excited about that.”
The Let’s Shake gala also features dinner, music, silent auction and draws. See lets-shake.com.
https://www.hamiltonnews.com/whatson-story/7184334-the-trews-headline-hamilton-s-let-s-shake-gala-fundraiser-for-parkinson-s/

Friday, March 10, 2017

Parkinson Canada: Medical Marijuana and Parkinson's disease

Tuesday March 14th, 2017
12:00 PM




With more people looking into alternative therapies, it's no surprise many have questions about medical marijuana and it's use in Parkinson's disease. There is a strong interest in the therapeutic properties of marijuana in the treatment and management of Parkinson's symptoms.

Be part of this informative session where you will learn about the different strains and varieties of cannabis, the process in acquiring it, its use in managing symptoms of Parkinson's and what the recent research shows in treating chronic conditions. 



http://donate.parkinson.ca/site/Calendar/946024415

Seating is limited. To attend the free in-person lunch & learn. 
Hilton Garden, 746 Old Hespeler Rd. in Cambridge.
If you have any dietary restrictions please email grace.ferrari@parkinson.ca.  

OR


http://www.meetview.com/parkinson20170314/index.php?enter

To watch from home.   
 


Featuring: Jonathan Zaid - founded non-profit patients' rights group Canadians for Fair Access to Medical Marijuana, which aims to help others navigate, and ultimately improve, the issues and challenges associated with medical cannabis.

Zaid is recognized as a leading industry expert on the cost-coverage of medical cannabis. He has advocated for patients' rights on industry panels and been featured in numerous television, radio, blog, and newspaper interviews.



Parkinson Canada

316 - 4211 Yonge St
Toronto ON M2P 2A9
www.parkinson.ca
t: 416-227-9700 | 1-800-565-3000
e: education@parkinson.ca
Charitable Registration Number: 10809 1786 RR0001

https://mail.google.com/mail/u/0/#inbox/15ab9ffcf4976103

Partners in Parkinson’s Opens Education and Support Video Gallery Website

BY JOANA FERNANDES, PHD



Partners in Parkinson’s has opened a video gallery online to help educate people about the disease and to support services to Parkinson’s patients worldwide. The group is also planning to host information events in two U.S. cities this year.
The gallery’s aim is to bring essential information to patients that can help improve their care at every stage of Parkinson’s. The events carry a more personal touch.
“I feel more comfortable . . . more knowledgeable, more connected and more hopeful,” said a  participant at a New York event in 2016. “Thank you for a powerful day.”
This year, the live events that bring information, educational tools and resources to patients will be in Grand Rapids, Michigan, and Orlando, Florida, according to a press release.
Online video gallery
The online gallery at the Partners in Parkinson’s website can be accessed at any time.
Its videos include stories by Parkinson’s patients and caregivers, and talks with healthcare professionals and researchers working on the disease.
The gallery also allows patients and caregivers to attend live events virtually and watch recordings of panels and breakout sessions from the May 14, 2016, event that was held in Oakland, California.
Four live webinars will be available on demand this year for patients needing the latest updates on Parkinson’s resources. They will cover topics such as how to assemble a care team and what to expect as the disease progresses.
The webinars will feature such guests as Lonnie Ali, Muhammad Ali’s widow, talking about her experience as a Parkinson’s caregiver.
Live events
The Grand Rapids event will be June 10, and the Orlando event Oct. 28. Both will include interactive panels and breakout sessions on life with Parkinson’s. Another feature will be the staging of an appointment with a movement disorder specialist, which will give patients a better understanding of what to expect.
Those at the event will gain access to recent research updates, and to support organizations and activities. Question-and-answer sessions are also planned.
Partners in Parkinson’s is working with the Davis Phinney Foundation, the Parkinson’s Foundation, LSVT Global Inc., and the Parkinson Voice Project in hosting the events.
Other tools available online 
The Partners website features an online tool that helps patients get in touch with a movement disorder specialist. The tool was developed in collaboration with the International Parkinson and Movement Disorder Society.
Website users can find comprehensive information on Parkinson’s and connect with AbbVie Parkinson’s Disease Advocates, who provides one-on-one support across the United States.
“Together with AbbVie, we are proud that Partners in Parkinson’s has provided individuals with the support and empowerment to navigate their disease, and we look forward to connecting with more of the community through the tools we are adding to the program in 2017,” Todd Sherer, PhD, CEO of the Michael J. Fox Foundation (MJFF), said in a news release.
Partners in Parkinson’s is a joint effort of the Michael J. Fox Foundation and AbbVie. Since its start in 2014 it has served more than 20,000 people — patients, families and caregivers — through in-person and online events.

Medical Marijuana: Necessity, Not Political Tool

March 10, 2017




An older man named Larry walks to the front door of his apartment, where he meets a fellow Parkinson’s patient and invites him inside. He struggles to walk back to the couch, his hands trembling because of his severe condition. 

His friend asks, “How you feeling?” 

He struggles to speak, and finally replies, “It’s been a tough week.” But just a few moments after Tom takes his medication, his hands begin to steady. His legs stop shaking and he regains control of his motor functions. He speaks clearly and calmly. His magic tool? A very small dose of medical marijuana. 

The documentary “Ride With Larry” is an in-depth look at the journey of a man with Parkinson’s disease. He has tried every medication, every surgery, and every remedy, but was never able to find relief for his symptoms until he discovered medical marijuana. Unfortunately, Larry’s condition affects over 1 million Americans – yet, these patients can only use his remedy if they happen to live in one of the 28 U.S. states that have legalized medicinal marijuana. 

In November 2016, the Arkansas electorate voted on two ballot measures to legalize the product, one of which was thrown out before all the ballots had been cast. The politics of weed and the industries, both legal and illegal, that it affects have made the fight for its medical use difficult. 

With the introduction of the “War on Drugs” by Presidents Nixon and Reagan, marijuana suddenly became a scapegoat for politicians to use for fear-mongering – and the public took hold of the fallacious trepidation that the substance would become a “gateway” into other, more harmful drug use. 

The rhetoric used by politicians to talk about marijuana led to deprecatory policy on its use, which is probably why it’s still illegal in a vast number of states, even though the scientific evidence suggests that it has healing properties for a plethora of mental and physical ails. 

Arkansas voted to legalize its medicinal use. Yet, a Senate committee in the Arkansas Legislature filed SB238, a bill that will further delay the newly legalized medicine’s accessibility unless the United States Federal Government decriminalizes it – which could takes years, if it is to happen at all. 

http://www.astateherald.com/opinion/medical-marijuana-necessity-not-political-tool/article_0fcbd0ac-0438-11e7-8672-af02906364a5.html

Keapstone Therapeutics Launched in World-First Partnership to Develop New Parkinson's Drugs

March 10, 2017
by University of Sheffield



The University of Sheffield and Parkinson’s UK have launched a new £1 million virtual biotech company in the next stage[1] of a pioneering research programme to create new drugs for Parkinson’s.
In a partnership that is the first of its kind, Keapstone Therapeutics will combine world-leading research from the University with funding and expertise from the charity to help develop revolutionary drugs for Parkinson’s, which affects around 127,000 people in the UK.
Although similar partnerships between charities and research specialists have been formed in the past, this is the first time a charity has directly approached researchers to launch a spin-out company with the aim of advancing one particular research programme.
The creation of Keapstone Therapeutics is part of Parkinson’s UK’s new Virtual Biotech venture, formed to combat the lost opportunities in drug discovery and early clinical development caused by the changing pharma landscape. It allows the charity to work virtually – providing leadership and critical funding, in partnership with a range of other organisations that have the facilities and staff to carry out scientific work on a contract basis.
Keapstone is the first ‘single-asset’ spin-out company to be created in this way and it ensures that, if successful, the research is in the best possible position to receive investment – allowing immediate progress towards clinical trials. The structure of the set-up also means that Parkinson’s UK and The University of Sheffield will each retain a stake in any future developments.
Director of Research at Parkinson’s UK, Arthur Roach, said: “Due to the funding gap in early stage drug discovery, there are promising scientific breakthroughs for Parkinson’s happening every day that are not being picked up and developed by commercial companies.
“This major new programme of work will allow us to act in a similar way to a small biotech company. However, unlike a commercial company, our primary goal is the creation of new treatments to improve the lives of people with Parkinson’s, regardless of commercial considerations.
“Keapstone is our first step in this pioneering programme and it is a world-first in terms of its formation. By seeking early collaboration with a University in the creation of a spin-out biotech company, we will be able to investigate and develop potential Parkinson’s treatments with an intensity that is unprecedented for a charity.”
Keapstone Therapeutics will build on over a decade of research at the University’s Sheffield Institute for Translational Neuroscience (SITraN), where researchers have pinpointed a way to trigger a possible in-built defence system that helps protect brain cells from oxidative stress. This stress is caused by a damaging build-up of free-radicals and is found in the brain cells of people with Parkinson’s.
Dr Richard Mead from SITraN discovered a new class of compounds that can activate the brain cell defence system. Keapstone Therapeutics will now fund the chemistry specialists, Sygnature Discovery, to further develop these molecules, which could eventually become new drugs that can slow or stop the progression of Parkinson’s.
Dr Mead said: “We are very excited about this new partnership with Parkinson’s UK. It is a great opportunity for us to pursue a novel drug discovery program for Parkinson’s and other neurodegenerative conditions, such as motor neuron disease (MND).
“We will now progress these molecules through the next stage of drug development.”
Professor Dame Pamela Shaw, Director of SITraN, said: “We are very excited to have the opportunity to further our programme of work to develop new approaches for protecting neurons and slowing disease progression in Parkinson’s disease and MND, by designing drugs which boost the internal cellular defence mechanisms.
“Along with Parkinson’s UK, Keapstone Therapeutics will facilitate a step-change in the drug development programme emerging from the scientific and pre-clinical research within SITraN”.
Sarah Fulton Tindall, Director of Research and Innovation Services at the University of Sheffield, said: “We are delighted to be working with Parkinson’s UK to support this novel form of commercialisation. This potential therapy can benefit patients worldwide, and gives the University another exciting spin-out company led by our world-class academics."
Steve Ford, Chief Executive at Parkinson’s UK, said: “Parkinsons’ UK is delighted to be working with Sheffield University through the formation of Keapstone, to help unlock the potential of the very promising discoveries made by Dr Richard Mead and his team.
“For years we have worked to support and accelerate the progression of research discoveries from the lab into clinical trials, with the aim of developing new drugs that can be used to manage and treat Parkinson’s. The launch of Keapstone marks an exciting step change in our strategy, which will allow us greater involvement in research and more flexibility to progress promising leads.
“This extraordinary venture would not have been possible without our supporters and partners - and we’re looking forward to sharing the developments of this new project with them.”

http://www.dddmag.com/news/2017/03/keapstone-therapeutics-launched-world-first-partnership-develop-new-parkinsons-drugs

A Young Man With Parkinson's Worries About The Costs Of A GOP Health Plan

March 10, 2017
ALEX SMITH

Ford Inbody (right) and his wife Cortney (left) now live with his grandmother outside Kansas City, so they can save money for the day when Ford's Parkinson's disease will likely force him to stop working.


Many millennials have their hands full now, as they launch into adulthood — jobs, homes and partners. But 33-yr-old Ford Inbody is already thinking about a time when he won't be able to work. He has Parkinson's disease.
Every night after work, he and his wife Cortney walk their two dogs through their neighborhood in Overland Park, Kan. For now, going out for an evening's stroll is easy. But many of their evening conversations revolve around a time they know is coming — when these walks will be more difficult.
Inbody was diagnosed with young-onset Parkinson's disease three years ago. When he was 25, he started noticing confusing health symptoms like joint stiffness, tremors and loss of smell. He says initially he was relieved to get a definitive diagnosis.
But, he says, "I then started doing more research about it, that's when it became a little bit scary. There is no cure. There is no way to slow the progression of the disease. There's nothing really except just symptom management."
Since the diagnosis, the couple has had to dramatically rethink their future.
"We had to very much start considering life planning," he says. "We had to make sure, you know, are we going to have enough income."
They're not planning to have kids and are bracing for a much more modest lifestyle than they once imagined. They live now with Ford's grandmother, to save money for the day when the degenerative disease will eventually force him to stop working.
For now he gets health insurance through his job at a law firm, training attorneys on corporate policies. But Ford and Cortney worry about how his condition will progress and how they'll pay for health care when he can no longer work.
Cortney works in the human resources department for a chocolatier. It is possible Ford could go on her insurance, but when they first ran the numbers, that was prohibitively expensive. So they thought Ford would get private insurance at a reasonable price despite his condition on the Affordable Care Act exchange; then he'd probably transition to Medicaid when his condition gets bad enough. That's been his plan.

Ford, now 33, was diagnosed with young-onset Parkinson's disease three years ago. He and Cortney savor his relatively good health now. But the disease is degenerative, which means they'll likely need an individual health policy one day soon, and will eventually turn to Medicaid.
But ever since the election, he's been preoccupied with the developments of repeal and replace.
It's a constant concern, he says — "reading the news every day, checking out all the different stories that are going on."
Inbody read every word of the original GOP replacement plan, released on March 6. He was somewhat relieved to see that, at least so far, it includes the requirement that insurance companies cover preexisting conditions in every plan on the exchange.
"It's not like a complete 'all is lost' situation," he says. "And I certainly am not jumping from the roof and concerned that Republicans are trying to doom me to a life of no care."
But he does have questions about how this will all play out, in terms of his own situation. Chris Sloan, a senior manager with the research and consulting firm Avalere Health, says it's true Inbody will be able to get some sort of insurance policy, regardless. But there's a big difference between how the new tax credits he'd get under the GOP plan would compare with the subsidies he'd get under the ACA to help him pay for insurance costs.
"The changes to the tax credits and to the subsidies available could mean that he's going to have to pay more," Sloan says. "Depending on his finances, some of those changes could mean that he has to pay a lot more to get coverage on the individual market."
Today the annual ACA subsidies are based on income and the cost of coverage in each region. Under the GOP proposal, Inbody and his wife would, instead, get a flat $5,000 per year to help pay for health insurance coverage for them both. So when Inbody stops working and the couple's income is much lower, they won't get extra help in the GOP plan to pay for monthly health insurance premiums.
That's not all. Sloan also explains that, under the GOP plan, some extra help for out-of-pocket costs will disappear.
"With this new proposal, that just doesn't exist anymore," he says.
Sloan says there's also nothing in the new plan to stop another problem — many exchange policies cover fewer medications than employer-based plans, and the networks of doctors and hospitals are getting narrower.
The bill also proposes drastic changes to Medicaid. Inbody could very well end up on Medicaid — it's the insurance many people with disabilities rely on.
The Republican plan would limit how much money states get for each Medicaid recipient. And though that amount would go up each year, the increase would be based on overall inflation, not the increase in medical costs. So eventually, Sloan says, the federal government would be giving states a lot less money, relative to the cost of health care.
"Then the state has to make a decision. In Kansas's case, they'll have to say, 'How do we make up that difference?' " Sloan says. "They can say, 'You know what, we're just going to reduce eligibility. Previously, we gave Medicaid to people up to this income. Now we're going to take that — a little bit — because we need the money. So we'll save money by not covering these people.' "
For example, consider Inbody's case. Restricting eligibility for Medicaid, under the GOP plan, could mean it will be harder for Inbody to get that coverage, Sloan says. Then, "even if he gets Medicaid down the line, how generous are the benefits? Do they cover everything that he needs for his Parkinson's condition?"
Inbody has hope that whatever legislation is ultimately passed will help him and others with their health problems. But the politics frustrates him.
"The Republicans, they want it their way," Inbody says. "And the Democrats are going to do everything they can to refuse a Republican victory. And really, what that means in the end is something completely ineffectual that doesn't really help anybody is going to get passed — and nobody's really going to be happy about it."
For now, Inbody says he's enjoying the health he has. He and Cortney are heading out his weekend on a Colorado road trip.
This story is part of a reporting partnership with NPR, KCUR and Kaiser Health NewsAlex Smith is a health reporter at KCUR in Kansas, City, Mo.
http://www.npr.org/sections/health-shots/2017/03/10/519432950/a-young-man-with-parkinsons-worries-about-the-costs-of-a-gop-health-plan
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Study gives clues to causes of Motor Neurone Disease and Parkinson's Disease

March 10, 2017
By Chris Melvin

The team produced 11 3D images of mutant versions of angiogenin. Credit: University of Bath


Scientists at the University of Bath have made further progress to understanding the role of one of the proteins that causes the neurodegenerative disorder Amyotrophic Lateral Sclerosis (ALS) and Parkinson's Disease (PD).The scientists studied a protein called angiogenin, which is present in the spinal cord and brain, which protects neurons from cell death. Mutations in this protein have been found in sufferers of ALS and PD and are thought to play a key role in the progression of the condition.
ALS/PD triggers progressive weakness, muscle atrophy and muscle twitches and spasms. The diseases affect around 130,000 people in the UK.
The team of cell biologists and structural biologists have produced 3-D images of 11 mutant versions of angiogenin to see how these mutations changed the structure of the molecule and damaged its function.
The study, published in the journal Scientific Reports, provides insights into the causes of ALS and related conditions such as PD. The detailed experimental structural study on these mutations will have implications in understanding the molecular basis underlying their role in ALS and PD.
Previously the team had looked at the effects of the malfunctioning proteins on neurons grown from  in the laboratory. They found that some of the mutations stopped the protein being transported to the cell nucleus, a process that is critical for it to function correctly. The  also prevented cells from producing stress granules, the neuron's natural defence from stress caused by low oxygen levels.
The research was led by structural biologist Professor K. Ravi Acharya and cell biologist Dr Vasanta Subramanian, both from the Department of Biology & Biochemistry.
Professor Acharya said: "We hope that the scientific community can use this new knowledge to help design new drugs that will bind selectively to the defective protein to protect the body from its damaging effects."
The research was funded by the Wellcome Trust and extensively made use of Diamond Light Source, the high brightness, state of the art international X-ray facility located at Didcot to discern the 3-D mutant structures at the highest precision.
More information: William J. Bradshaw et al. Structural insights into human angiogenin variants implicated in Parkinson's disease and Amyotrophic Lateral Sclerosis, Scientific Reports (2017). DOI: 10.1038/srep41996
Journal reference: Scientific Reports

Provided by: University of Bath

https://medicalxpress.com/news/2017-03-clues-motor-neurone-disease-parkinson.html

Genetics and Parkinson’s Disease: What’s New?

Spring 2017





People often ask, is Parkinson’s disease (PD) genetic? If one of my parents has Parkinson’s, am I more at risk? In rare cases, the answer is black-and-white: a specific inherited genetic change, or mutation, causes Parkinson’s directly.
But for most people, genetics plays a more complex role, influencing their risk for Parkinson’s but not directly causing the disease.

In the past decade or so, genetics has become one of the most exciting areas of Parkinson’s research, leading to a startling realization: most cases of Parkinson’s likely have a genetic component. And today, that grey area — the continuum of risk for Parkinson’s — is coming into sharper focus.

The Parkinson’s Disease Foundation (PDF), a division of the Parkinson’s Foundation, has invested heavily in genetics research, through our fellowship and career development awards to individuals, and grants to teams at our Research Centers.

The genetic discoveries made by our teams are leading to fundamental insights into the causes of Parkinson’s and ideas for how to better treat the disease. The reasoning goes like this: if we understand which genes are linked to PD, we can find ways to change their activity. For example, if a gene contributes to PD by being overactive (e.g., encoding for an overactive enzyme), a drug that shuts it down might help PD, even in those without the gene mutation. Additionally, long-term studies of genes, some of which we have supported, are influencing the design of clinical trials and helping us to understand why different people experience the disease differently.
This research, in turn, paves the way to personalized therapies. Here are some highlights.

Genetics Upends Our View of Parkinson’s
Today, scientists agree that genetic and environmental factors both play a role in causing Parkinson’s. However, as recently as the 1990s, few scientists suspected a role for genes. One who did was Roger Duvoisin, M.D., the first research fellow funded by PDF (to date, we have supported 150). In 1997, Dr. Duvoisin and colleagues broke open the field with the discovery of the first gene linked to PD: alpha- synuclein. Mutations in this gene cause PD throughout multiple generations in the rare families who carry them.

Dr. Duvoisin’s finding spurred an intense search for more PD genes. Studies of families affected by PD quickly led to the discovery of another gene, LRRK2 (leucine-rich repeat kinase 2) in 2004 and the realization that LRRK2 mutations were more common in some populations than in others. For example, whereas one to two percent of whites with European ancestry carried LRRK2 mutations, these genetic changes were found in up to 20 percent of Ashkenazi Jews (people of Eastern European descent).

At about the same time, other research groups made a link between Gaucher disease and Parkinson’s, shedding light on another gene: GBA. People with Gaucher disease have mutations in both copies of a gene known as GBA. Carriers of GBA (people with only one mutated copy of the gene) do not show any symptoms of the disease, but have an increased risk of developing PD.

The Most Common PD Genes
Among the 30 genetic changes that have been linked to Parkinson’s disease, changes in GBA and LRRK2 are the most common. Two researchers at our Research Center at Columbia University Medical Center, Karen Marder, M.D., Ph.D., and Roy N. Alcalay, M.D., M.Sc., have pushed the field forward in understanding them.

It’s important to remember that not everyone with GBA or LRRK2 mutations develops PD. So part of the research focuses on risk. “If you have the mutations, what is your risk for Parkinson’s?” asks Dr. Alcalay. “That’s a very important question for the family members of people with PD to know — if I have mutation, what’s the risk that I will actually go onto develop PD? It’s also important for research because if we develop a drug to reduce genetic risk, we first need to understand a person’s baseline risk before we start trying to reduce it.” For carriers of GBA mutations, Dr. Alcalay and colleagues estimate the risk of PD to be 10 percent. Dr. Marder led the work on LRRK2, finding a 30 percent risk of PD for carriers.

That was just the first step. While following the progression of PD in hundreds of people with these mutations, Drs. Alcalay and Marder observed distinct sets of symptoms associated with the two genes. For example, as a group, people with GBA mutations had more rapidly progressing PD compared to those with LRRK2 mutations, and experienced more nonmotor symptoms, including cognitive difficulties. For the majority of people with PD, it is too soon to use genetics to predict symptoms. These findings, however, represent a step in that direction.

New knowledge about LRRK2 and GBA is guiding the research of Dr. Alcalay and others into biomarkers — substances that could be measured in blood or urine to diagnose Parkinson’s, monitor its progression and possibly identify genetic mutations. Biomarkers would not only ease diagnosis, they would also help clinical trials by tracking the effects of experimental therapies.
For GBA carriers, those therapies may be near at hand. “There is a lot of information about Gaucher disease, and there are treatments for it,” explains Dr. Alcalay, noting that there are drugs that boost the activity of the GBA enzyme called glucocerebrosidase. “The problem is that those treatments cannot penetrate the brain. So the goals for scientists are very clear — let’s try to enhance the activity of the GBA enzyme in the brain and see what happens.” In fact, clinical trials for studies to do this already are recruiting participants.

“Our hope is that the research we did five years ago to identify PD genes will now lead us to studies of possible therapeutics,” says Dr. Alcalay.

New Techniques
Early genetics research in PD had much success by homing in on single genes, often associated with PD in families. But genetic mutations that directly cause PD account for only ten percent of PD diagnoses. In the remaining 90 percent of cases, small changes in many genes influence a person’s risk of developing PD.
More recently, scientists have taken a more big-picture approach, using a technique called genome-wide association studies (GWAS), to study hundreds and thousands of genes at one time. With the GWAS technique, scientists can scan the genomes of thousands of people with PD in search of variations — essentially single-letter “spelling” differences — associated with disease.

“The realization that all cases of PD have a genetic component doesn’t mean that the disease will run in families,” says Andrew B. Singleton, Ph.D., at the US National Institutes of Health. “Rather it shows us that Parkinson’s occurs because of a very complex mixture of genetic changes, which likely interact with the environment to increase risk for the disease.”

Dr. Singleton led a study published in 2014 that analyzed data from earlier GWAS studies to compare the genetic make-up of thousands of people with PD with the genetic make-up of healthy individuals. The researchers identified six new gene regions associated with PD. Although the PD risk associated with variations at each region was small, it was cumulative — multiple changes added up to increased PD risk. The study points to a different way to estimate Parkinson’s risk and to understand how genes interact to cause the disease.

Spotlight on Populations
To date, most genetic studies on PD have been carried out on populations of European or Asian ancestry. But gene variants differ around the world. In 2009, we supported the work of Ignacio Fernandez Mata, Ph.D., of the University of Washington and the VA Puget Sound Health Care System, to create a research consortium for Parkinson’s genetics called the Latin American Research Consortium on the Genetics of PD (LARGE-PD).

When Dr. Mata and team analyzed DNA collected from nearly 3,000 participants, they found some surprises. For example, says Dr. Mata, “In a European population the most common LRRK2 variant causes one to two percent of PD cases. But in a lot of Latin American countries this variant is rare, and the amount of LRRK2 carriers is tied to the amount of European ancestry people have.”

When the team looked at another common PD gene, GBA, in Latin American people with PD, they discovered a new variation in Colombia (distinct from the mutations previously found) apparently traceable to the African ancestry of the participants. This variation accounted for nearly half of the GBA mutations found in this country. “This is one of the interesting things about studying populations — we are finding new variants in known genes,” says Dr. Mata.

The finding is important because, in the future, if doctors want to screen Latinos for GBA variations, they will know to look for this specific one. In addition, it’s possible that this variation contributes to PD in European populations too, but has not yet been detected because of its low frequency. With new funding from PDF, Dr. Mata is planning the first GWAS study in Latinos with PD, with the ultimate goal of helping to determine how gene variants affect the risk of someone of a certain ethnicity for developing Parkinson’s.

Looking Ahead
Scientists have a wealth of genetic data to interpret, and they are on the cusp of using it to develop new therapies. One way this is shaping up is to allow for more focused and reliable clinical trials. It’s possible that some Parkinson’s disease clinical trials in the past have failed because they included a mix of participants, some of whom may be genetically predisposed to respond to a therapy and others not. Using genetics, it may be possible to develop therapies that target specific genetic variations and to recruit participants who may be more likely to benefit. In other words, we can use genetics to target the right treatments to the right people with PD.

A better understanding of genetic risks for PD will also help researchers identify subtypes of PD in the future — clusters of symptoms related to genetic variations. “Combining genetics with other factors, such as imaging, biomarkers and clinical signs, will give us the best road to predicting the course of disease, response to treatment and individualized treatment,” says Dr. Singleton.


While personalized medicine is a goal for the future, it will require the difficult and costly work of studying very large numbers of people with PD. In addition, as we try to understand the mechanisms that underlie Parkinson’s, studying in genetics in the lab will remain a critical way to find answers. PDF is committed to the long-term support of this research. It is only by continuing to move the field forward will we achieve our goals of better ways to diagnose and treat PD, and ultimately to end it.

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