Age and Parkinsons and neuroacanthocytosis

have you been told you had Parkinsons and were in your teens or 20.s if so can you tell me if you have heard the name neuroacanthocytosis, did youe doctor tell you this is what you have inspite of the resultes of any tests as the dr said you have this illness even though the bloods might come back nigitive . please let me know if this has happened to you and what the outcome has been no matter what x
hi biddy
it is very unlikely,though i suppose possible, that anyone reading this has any experience of neuroacanthocytosis. There are 4 different disease, none of which are actually pd
1) chorea - 500 cases world wide, dystonia and mouth biting - both parents must have a faulty gene to pass on to 1 in 4 children
2) pkan - 1 case in a million - iron deposits in brain visible in MRI
3) mcleod syndrome - 150 cases world wide, mostly males, mothers are carriers seizures, heart problems
4) huntington's disease-like type 2 - 50 cases world wide, mostly south africans

the outcomes and symptoms vary for each disease, none have a cure.

i hope this gives you some more information. these are extraordinarily rare diseases so there is not much info on them. are your family jewish, south african or mcleods?

best wishes
Hi Biddy, I was diagnosed in my twenties, but it took a while, but eventually I was diagnosed as definately having PD by a Dr. Godwyn Austen at The University Hospital In Nottingham. Apparently, it was proven that I had inherited PD from my late Grandmother.That was almost 40 years ago.
ps according to wikipedia:
The hallmark feature of a neuroacanthocytosis disease is the presence of Acanthocytes

the are spiky shaped red-blood cells. if these were missing in the blood tests how could a diagnosis of neuroacanthocytosis be given? not questioning what your doctor says but it would be interesting to know how you can have 'spiky blood cell' disease with no spiky blood cells - presumably there is some other sign which overcomes the lack of spiky blood cells?

pps someone has been successfully treated with dbs for one of these diseases.

Following an MRI scan, my Parkinson’s Consultant informed me that I have high levels of iron deposits in my brain, these were visible on the scan.

Does this mean that pkan relates to my condition, prior to being diagnosed with PD I suffered from dystonia which initially affected my neck, but progressed rapidly to involve my eyes, vocal cords, arms and legs - this was treated with botulinum toxin injections every 12 weeks, they were painful and ineffective

Following further investigations, I was told that my problem is Parkinson’s I take a combination of the usual drugs but unfortunately nothing seems to halt its progression

Do you have any advice I can follow please