Genetic testing?: Does anyone know where I... - PSP Association

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Genetic testing?

Sailorwoman
Sailorwoman

Does anyone know where I could get genetic testing for PSP please? My mother died of it in 2008 - I've heard the symptoms usually start in the sixties - I am now 63 and experiencing strange symptoms like confused thinking, crying a lot, depression, tired all the time and I worry I may be in the early stages - I don't want to do much or go out or see people as I feel anxious and low. I've just started on antidepressants as I really need a boost - I have no money and no family and have just moved from Ireland to Cornwall - all stresses I know but I'm usually strong and resourceful. I've done a lot with my life, sailed across oceans etc. but am worried I may have PSP and would like to get tested - can anyone shed any light? Thank you.

7 Replies
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I don't believe there is a generic test. Most diagnosis is made by experienced neurologists through observation of symptoms and possible MRI scans. As far as I know only a brain autopsy can give a definite diagnosis.

Ron

Hi Sailorwoman

You have described enough changes and difficulties to more than cause a bout of acute low mood.

I would add that confused thinking can be a part of depression.

How long have you been on anti-depression meds? Have they had time to start working?

There is no genetic test for PSP/CBD yet available. A lot of work is going into to developing test. PSP and CBD are officially not an inherited disease though there have been one (perhaps two) pilot studies which found rare cases of a range of neurological disorders occurring in some families. Even then these occurrences are statistically rare.

If you head over to the PSP Association you will find lists of initial symptoms. Key ones include falls and apathy.

Worrying can also go along with depression by the way.

Until you start presenting with core symptoms a referral to a neurologist is unlikely to be helpful. If you do have worries speak to your G.P.

Do have a partner close relative or someone you can speak to? Ask them what they see. The reason I say that is that PSP/CBD most often involve a lack of perception into what is happening for the person suffering these disorders.

Welcome to the forum BTW :)

Waiving to you

Kevin

(Ex-blue water single hander - swallowed the anchor :( )

Hang in there, Sailorwoman! There is help here for all relating to PSP. Think there is someone who checks in here from Cornwall too.

Understand how your mind is in overdrive with already losing your mum to PSP. My husband died of what was diagnosed as CBD and I found there may be a genetic link there. Don't know of any to PSP.

Check in with your doctor again if you are still unhappy with how you feel, maybe ask him for a referral to a neurologist. He may shed some light on your feelings.

Don't know if you have thought whether they might be related to hormonal changes. You will know if this is relevant - I don't. So sorry if it is a silly question!

However, I have had friends who have been badly affected by the Change, similar and worse to what you are experiencing. For myself, I seemed to get off very easily - so may not know what I am talking about!

Check back here now and then, or when you need some positive thoughts or a shoulder to lean on!

Hugs

Jen xxx

Hi Sailor woman,

I think it is understandable if you are depressed, confused etc that you worry about PSP if your mother died from it. My mum died after 15 years of Alzheimer’s and every time I go upstairs to get something and forget what I’ve gone up there for, put something down and then can’t find it 2 minutes later and umpteen other things, I think, Oh no, I’m taking after mum. If it is so, I know there is no cure so am going to live life to the full while I can and don’t want confirmation giving me many years to worry about something I can’t do anything about.

My husband still didn’t feel any different with PSP when I made an appointment for him to go to the doctor after 2 years of me noticing signs and symptoms. His response was, “ What shall I tell him as I think I’m OK”. He thought his falls were because he was getting older and didn’t recognise other symptoms. You have noticed something is wrong and are on antidepressants so in contact with a doctor. Hopefully they will soon make a difference but if you don’t have friends or family to speak to, mention your fears to him/her. I know it’s easy for me to say but please try not to worry about something that may never happen. Life is too short and precious.

Sending you a big hug.

💐 XxxX

There is NO individual genetic test for PSP. PSP Association, from donated brains, has found 3 genes associated with PSP. Research on how those genes (an or others) work is in the future.

I live in Los Angeles, CA, USA. I am 77 years old. I lost my 55 year old son to PSP May 4, 2017. Grief is VERY powerful. Every joint in my body ached. My sciatica went out...needed a cane to get around. My stomach was queasy. It is only in the last month that I can walk erect and starting to feel like former self.

I feel for your what you are experiencing. I would encourage you to see a cognitive therapist to address your worries. Perhaps a support therapy group, I do think it will benefit you. Worries can paralyze, and I really don't personally know of a soul whom it has helped.

Prayers......as for me I am leaving in a few hours to fly up to Oregon for a visit with my daughter...no access to computer (hurrah!).

As I understand it genetic testing is not available for PSP, at least in Australia. My husband was diagnosed almost 2 years ago and his only sister about a year ago. It has amazed me that researchers have shown no interest in doing genetic tests as I believe it is very unusual for siblings to both have PSP. I wish you well in dealing with your concerns. My advice would be to assume that you don't have PSP. On balance I think it's unlikely. Since there's nothing you can do if it is, just get on with your life and live every day to the full. Stay positive. Good luck.

Hi Sailorwoman!

I do not know any test to detect PSP.

By private internal mail I send you a list of symptoms that may be indicative in the first stages.

Also how were the first symptoms in the case of my wife.

I hope that all this is useful for you to conclude that you do NOT have PSP.

A time of much stress usually take its bill, the more the older you are.

Regards, luck and courage.

Luis

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