Genetic risk for Early Onslaught Parkinson’s upped by PINK1 variation

Single mutation in recessive gene increases risk of earlier onset Parkinson’s disease

“A collaboration of 32 researchers in seven countries, led by scientists at Mayo Clinic’s campus in Florida, has found a genetic mutation they say confers a risk for development of Parkinson’s disease earlier than usual.

The major study, published in Brain, is important because the risk comes from a single mutation in the PTEN-induced putative kinase 1 (PINK1) gene. Investigators had believed that this rare form of Parkinson’s developed only when a person inherited mutations in both PINK1 alleles (one from each parent).”

 You can download a copy of the original research article at this link: Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

 

Standing up can reveal cognitive difficulties.

Unmasking cognitive deficits by standing up

Published at the end of November 2016, the linked article found that folks with orthostatic hypotension revealed more cognitive deficits on standing up than when measured sitting down or lying down.

Since most cognitive tests are administered while the subject is sitting or lying down,  cognitive difficulties faced in day to day living might be underestimated.

Participants with PD and OH were far more susceptible to posture-related impairment on several tests, including those that measured math skills, the ability to produce words easily, keeping information in mind while working on it, paying sufficient attention so that later memory is efficient and searching for items quickly and accurately.

Will Parkinson’s be diagnosed by a simple sample of blood in the near future?

A step towards more accurate diagnoses of Parkinson’s and other similar neurological diseases was recently reported in Nature. And by CNN which picked up the story: Parkinsons disease blood test study

Up until now, many diseases have been diagnosed based on symptoms, with patients asking, “How do you know I have this?” Meanwhile, doctors are not always correct, Wright said. This is true even of Parkinson’s, which is diagnosed based on symptoms, a patient’s history, neurological exams, a patient’s response to medicine and, in some cases, brain imaging tests.

As a person with Parkinson’s among other conditions, related or unrelated, this would be a big deal. When a diagnosis is based on having a specific array of symptoms, some of which might not be present in all cases (tremors, for instance), one wonders whether medications for reducing certain symptoms might not prevent the presentation of all the symptoms required for a diagnosis of Parkinson’s.

It does me little good to play “what if” since one doesn’t know how one would have reacted to an earlier diagnosis at an earlier age. One can only refer to Victor Frankl’s work on the search for meaning in our lives, and approach the present as though one has already been at this decision point and are being given a second chance to make a decision just as wrong as the original decision. At least that’s how I remember that particular quote.  Here’s another quote from Frankl:

the meaning of life always changes, but that it never ceases to be. According to logotherapy, we can discover this meaning in life in three different
ways: (1) by creating a work or doing a deed; (2) by experiencing something or
encountering someone; and (3) by the attitude we take toward unavoidable
suffering. The first, the way of achievement or accomplishment, is quite obvious.

Contributing data for scientific research

Got my genome sequenced by the folks at 23andMe, and consented to having my data used in research studies. As a result, some new genetic sites have been identified through the sifting of the aggregate data of other folks like or unlike me.

We humans are pattern identifying organisms. So if you have Parkinson’s but not one of the gene mutations/variations known to “cause” the disease, it is only natural that we would look for correlations and associations that might also result in Parkinsonism.  So scientists mine the DNA data of thousands of people with Parkinson’s and find some additional markers

DNA and Parkinson’s – discovery by association

A related article

Not having been trained in the field, I think in broader terms – for instance, if 50% of depression diagnoses eventually become PD cases, and 25% of essential tremor cases result in Parkinson’s cases, doesn’t it stand to reason that a person with depression and essential tremors will have a greater than 50% chance of developing Parkinson’s, assuming their lifetime is long enough?  Or would it be greater than 75%? It would be interesting to see a Venn diagram of overlapping diagnoses…

Dance for Parkinson’s – some links/citations

Just posting some links to materials on dance as therapy.

MJFF blog Feb 1, on Dance for Parkinson’s

Music means better QOL in the workplace

“Smarter living” is what the New York Times calls it. How music makes employees more productive.

In biological terms, melodious sounds help encourage the release of dopamine in the reward area of the brain, as would eating a delicacy, looking at something appealing or smelling a pleasant aroma, said Dr. Amit Sood, a physician of integrative medicine with the Mayo Clinic.

Since Parkinson’s is related to the death of dopamine releasing cells, it stands to reason that producing dopamine would exercise the neurons that are left, perhaps delay the progression, slow it down perhaps. Obviously this would be a good thing for folks to research.

the article goes on to discuss some workplace research:

Teresa Lesiuk, an assistant professor in the music therapy program at the University of Miami. Dr. Lesiuk’s research focuses on how music affects workplace performance. In one study involving information technology specialists, she found that those who listened to music completed their tasks more quickly and came up with better ideas than those who didn’t, because the music improved their mood.

Perhaps. I always used instrumental music at work to keep the right brain occupied while the left brain worked on logic and math aspects of the job. Verbal interruptions, or vocal music, did not seem to be as helpful as straight instrumental music. It’s a theory, of sorts.

True story: Once, while listening to a piece of music on the local public radio station during their request hour, I got a hankering to call them up and request Death and Transfiguration by Richard Strauss. The DJ seemed a little irritated by my request. It was what I was listening to that very moment, I was informed. I was a bit amused. I had just turned on the radio a little while ago and hadn’t heard the introduction to the recording. I guessed that my brain was trying to tell me something, but I didn’t quite get the message.

Richard Strauss: Death and Transfiguration

 

One more cup of coffee for the road

It seems that caffeine and therefore coffee can have a neuro-protective effect for Parkinson’s people.
CDC site article on Parkinson’s, Genomics and Coffee:

Here’s a guy who probably won’t be getting PD, if coffee and nicotine protect one against Parkinson’s. (I drank a lot of coffee in my day, but quit smoking early, after getting strep throat and then bronchitis within the course of a few months. Figured my body was trying to tell me something.)

A Good ole Boy a’Dancin an’ a’Prancin’ Again

This just came in: A physiotherapist in Oklahoma has discovered gait training with the use of favorite music and posted the anecdotal results as a video on Facebook. I remember my first experience with Dance for Parkinson’s  and how it got me swinging my arms to the rhythm. Recently found that Walk Like A Man reminds me to get my shoulders back and my head up, instead of stooping over like Quasimodo. (YouTube of WLAM below).

Someone needs to put together a playlist on YouTube of Gait Training For Parkinson’s videos and songs. Who will beat me to it? Bueller? Bueller?

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To dance beneath the diamond sky

 

2014-08-16-rjk-to-dance-beneath-the-diamond-sky-clematis-drummondii-img_0567

To dance beneath the diamond sky“. photo of Clematis drummondii by Robert Kamper. All rights reserved.

 

Something not really research related: An article in the St. Paul – Minneapolis ParkBugle about a Women’s Drumming Center. But for anyone dealing with stress, the quotes from teachers and students speak volumes about the power of community and rhythms.  People with Parkinson’s could do worse than follow this lead. ( I happen to have a warm-up protocol for a Parkinson’s music group I was in that begins with beating a drum and progresses to call and responses rhythms, much like this group).

Over at University of Michigan’s blog, Victor Kartch reports on anecdotal and scientific evidence on the uses of music as medicine in his January 11, 2017, Health Yourself column. He does list some references, as well as listing some of the conditions for which music has been used as therapy with positive results. Slight quibble: music therapy is used here in a very broad and loosely defined sense, which does not bother me, but might be viewed negatively by professionals in the business of music therapy, where a stricter definition of music therapy as a specific prescription for a specific symptom or condition might be considered the norm.

The Journal of the American Medical Association (JAMA) has an article titled “Move your arm like a swan” reporting on Dance for PD  and the “demedicalization” (my spell checker doesn’t think that’s a word) of Parkinson’s. The full article is free and there is also a link to download a copy of the article in PDF.  A related article on a Google Glass app that uses augmented reality is also linked to, is available for free, and has a link to download the full article in PDF. It’s like Christmas in January!