Hi all,
My dad passed away from PSP 12-months away after being diagnosed 2-years prior. I found out today, his brother who lives in Australia has also been diagnosed with PSP. Initially, they said this was just a coincidence but are now doing research into whether it's genetic. Given it's such a rare disease, it seems too coincidental to me?!
Just wanted to see if anyone on here had any experience with it being genetic or knows of any research or testing into this?
Thanks in advance!
Hi Sammount , When researching and learning about PSP , I remember reading that though it is very rare for another member of the same family to develop PSP , there are instances of it happening. I have also read that though there is no known correlation of risk factors in this illness ; still considered rare when compared with Alzheimers , there has been a very small increased possibility of PSP in families where there is a relative with Parkinson's .
My husband's mother had Parkinson's, diagnosed around age 50. It was suspected she had "atypical Parkinson's" or "Steel-Richardson "i.e. PSP, and she was studied extensively for over 30 years. My husband was diagnosed with PSP less than two years after her death and referred to the same specialist - with a comment that it would be very rare and potentially significant if there was a genetic link.Since his Mum had donated her brain, the specialist was able to conclude she had Parkinson's Disease and nothing else. We were told my husband's PSP was not linked in any way to her illness.
There is another post on this forum about two siblings with PSP, which suggests it could be a genetic link, however it doesn't appear to have been proven in research.
I hope you get answers and that no-one else in your family are affected.
Best regards
My late husband passed away February 2021 from PSP (Confirmed on autopsy). We discovered when he was DX’d in January 2018 that his maternal uncle died from PSP in 2006. We believed that his mother also died from PSP, as she had presented all the hallmark symptoms for many years, but was never evaluated by a neurologist.
My husband's father was diagnosed with parkinson's in his eighties. PSP became apparent with my husband in his early sixties. As far as i am aware no curent research in this area.
My mother and her brother both had PSP. I’m aware of another set of siblings in Northern Ireland. Again, no other info because I don’t think the research has been done.
It's an interesting question. My husband was diagnosed with Parkinson's and then because the Parkinson's medication (levodopa/benserazide) was having no effect the neurologist said he probably has Steele, Richardson disease (PSP). He explained briefly the disease and I told him that my husband's elder brother had died from Corticalbasal syndrome and was there a genetic link. He shrugged and said maybe, it's the same family. He didn't seem very interested.
On previous posts Timbow and I have discussed whether head injuries can have an effect on developing PSP. Both he and my husband have had accidents involving a severe impact to the skull. Who knows ?
Maybe it's a question to pose.
Genetic study recruiting currently:
To my Knowledge no-one in her family has ever had anything similar.
My husband was diagnosed as having Parkinson's in 2019. March this year, the movement disorder specialist diagnosed his condition as PSP-PAGF. His elder brother had Parkinson's and his father had Alzheimer's. Yet the neurologist says its not genetic.
Sharsuk
Hi Sammount!
These are our our informations about:
PSP diseases are believed to have a genetic cause which is not inherited, with the possible very rare exceptions. Familial diseases are inherited diseases. Only 5% of all cases of PSP are familial
I play a comment from Kevin_1 (08-2019):
“PSP and CBD are not inherited. There was one small study that thought it identified 'clusters' of families who had a higher than the normal rate of this group of illnesses. However even their study showed that it was exceptionally rare and it was a pilot study with all of the inherent accuracy issues which such small studies suffer.
The research is very clear, It is not an inherritted condition.”
Hug and luck.
Luis
Offering this as a resource and encourage anyone afflicted to be tested especially those with family history of movement disorders.
My PSPer mother's test documented a mutation not found documented in medicine. The mutation is now documented along with her symptoms. She also had an irregularity that is typically seen tied to Early On-set PD. The relevancy of these finding is unknown currently, but this science is very much emerging.
Families are encouraged to check back every year to see if any patterns have emerged. The test was merely a check swab. The company is conducting some trials right now throughout Europe. Info is available on ClinicalTrials.gov. The study requires blood draw.
Hi, i have PSP and have recently taken part in genetic research. The more research done into this horrible disease the better.
Hi, i have PSP and have recently taken part in genetic research. The more research done into this horrible disease the better.
Hi Sammount,
my husband has CBD and FTD, his FTD is genetic and meant he was sadly always destined to get this dreadful disease. The children have a fifty percent chance of developing it.
No one can tell me if the CBD is genetic but it is a sideline of the FTD, as we keep saying there’s not enough known about PSP or CBD.
My husband had an uncle who had Parkinson's years before he did. We were told that it wasn't genetic, and when my husband developed PSP, after initially being diagnosed with Parkinson's 8 years before, we were told that there was no apparent link to that being genetic .
Firstly I am sorry that you have had to watch your Dad and Uncle suffer from PSP. I know that they believe very few cases are genetically inherited however as others have suggested I think that there is growing insight. The PSP research days (online and I think last years is recorded and available on the website) are amazing at answering some of these questions. Some of the DNA testing websites like Sequencing can highlight which genes have been looked at as connected with PSP and link to the associated research, I am sure this is not yet complete but may give some insight and specifically how it may relate to your specific genetics. Otherwise I am sure cases like your Dad and Uncle can be a great help in unravelling this mystery.
Wishing you all the best.
The universe of Queensland has recently done testing.i I was involved .i Think have PSP but my uncle
and 4 of his grand children have Parkinson’s
PSP is under the umbrella term of “a Typical Parkinson’s “ so , yes , I believe it to be hereditary. Although, my neurologists says
It is not . I hope this helps
Hi
My 63 year old husband has PSP. His younger brother died of MND at age 58. His mother died of Alzheimer’s ant 70 and his father had a stroke. The Neurologists said they had no scientific evidence that PSp is passed genetically as yet but they did test my husband for MND and Alzheimer’s before diagnosing PSP to rule those out.
It does seem like something neurologically damaged is inherent in my husbands side of the family. Two of his siblings are fine.
I hope, really really hope, there isn't any genetic link. But what was strange for me was that an elderly cousin in our family remembered another family member from when she was young with similar illness profile to my father but I guess they didn't know back then what it was.
I really, really hope it’s not genetic. I have 3 children which I really worry about
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