Re: Distinguishing PD From Multiple System Atrophy

[Guest guest]

i have read where researchers believe that MSA is atypical parkinson's. any

comments on that. casunlimited@...

[Guest guest]

Yes, MSA is also known as " Parkinson's Plus " . See:

http://202.71.136.146:8080/healthcarehouse/diseases/neuro_em/topic596.htm

I forget where I read it now but some believe that Dr. Parkinson's

original patient who he described in 1817 as having " the shaking palsy " , now

known as Parkinson's Disease actually may have had Multiple System Atrophy.

Regards,

Pam

Re: Distinguishing PD From Multiple System Atrophy

> i have read where researchers believe that MSA is atypical parkinson's.

any

> comments on that. casunlimited@...

>

[Guest guest]

Thank you for that astute observation. differences, even minor ones,at the

cellular level cannot and should not be overlooked as not being a significant

finding. If what you say is true at the post mortum exam , then atypical PD

and MSA would be separate diseases. thanks again for you insight . where did

you get your info .

casunlimited@...

christopher (chris)

[Guest guest]

Thank you for that astute observation. differences, even minor ones,at the

cellular level cannot and should not be overlooked as not being a significant

finding. If what you say is true at the post mortum exam , then atypical PD

and MSA would be separate diseases. thanks again for you insight . where did

you get your info .

casunlimited@...

christopher (chris)

[Guest guest]

Hi

I'm not sure who you are addressing. There are specific differences in the

various neurodegenerative disorders that are observable at autopsy. With

the Parkinson-like disorders the proteins tau and alpha-synuclein are

involved. Multiple System Atrophy and Lewy Body Dementia and Parkinson

Disease are called synucleinopathies. Progressive Supranuclear Palsy and

Corticobasal Ganglionic Degeneration and Alzheimer's Disease are called

tauopathies.

These websites may be of some help in your understanding of this new

classification:

http://brainpath.medsch.ucla.edu/abstracts/vol9/0904/0904a9.htm

http://brainpath.medsch.ucla.edu/fulltext/0904pdf/dcksntro.pdf

http://www.med.upenn.edu/cndr/research1/tausyn/tausyn.htm

http://www.med.upenn.edu/cndr/patients/ADPDoverview.htm

http://www.med.upenn.edu/cndr/research1/pdchapter/PDchapter.htm

Regards,

Pam

Re: Distinguishing PD From Multiple System Atrophy

> Thank you for that astute observation. differences, even minor ones,at the

> cellular level cannot and should not be overlooked as not being a

significant

> finding. If what you say is true at the post mortum exam , then atypical

PD

> and MSA would be separate diseases. thanks again for you insight . where

did

> you get your info .

>

> casunlimited@...

> christopher (chris)

>

[Guest guest]

Hi

I'm not sure who you are addressing. There are specific differences in the

various neurodegenerative disorders that are observable at autopsy. With

the Parkinson-like disorders the proteins tau and alpha-synuclein are

involved. Multiple System Atrophy and Lewy Body Dementia and Parkinson

Disease are called synucleinopathies. Progressive Supranuclear Palsy and

Corticobasal Ganglionic Degeneration and Alzheimer's Disease are called

tauopathies.

These websites may be of some help in your understanding of this new

classification:

http://brainpath.medsch.ucla.edu/abstracts/vol9/0904/0904a9.htm

http://brainpath.medsch.ucla.edu/fulltext/0904pdf/dcksntro.pdf

http://www.med.upenn.edu/cndr/research1/tausyn/tausyn.htm

http://www.med.upenn.edu/cndr/patients/ADPDoverview.htm

http://www.med.upenn.edu/cndr/research1/pdchapter/PDchapter.htm

Regards,

Pam

Re: Distinguishing PD From Multiple System Atrophy

> Thank you for that astute observation. differences, even minor ones,at the

> cellular level cannot and should not be overlooked as not being a

significant

> finding. If what you say is true at the post mortum exam , then atypical

PD

> and MSA would be separate diseases. thanks again for you insight . where

did

> you get your info .

>

> casunlimited@...

> christopher (chris)

>

[Guest guest]

I'm not sure who you were replying to, but some clarifications. Atypical PD can

be a broad term like PD+ and as such MSA is just that. Former MSA patients at

autopsy often show degeneration in the substantia nigra which is just the area

that PD attacks, but PD has a presence of Lewy bodys and MSA does not usually.

MSA also involves cell death in at least three of the following areas of the

brain, striatum (caudate and putamen), substantia nigra, locus ceruleus,

inferior

olives, pontine nuclei, dorsal vagal nuclei, Purkinje cells of the cerebellum,

and the intermediolateral cell columns and Onuf's nucleus of the spinal cord.

" Separate diseases " is really not a good description to me. There could well be

separate causes for the cell death, BUT cell death caused by tau or alpha

proteins causes the same symptoms. If the cure involves replacement of certain

cells, it could well turn out that PSP, MSA, CBGD and possibly even PD could all

be cured by the same stem cells. Let's all hope so!

I can remember when FDR was the poster figure for polio (which my dad had in

1917) and I can remember standing in line for a lump of sugar with the oral

polio

vaccine when it came out (many years after FDR died). Polio is almost extinct

in

the USA today, because of research. How many polio patients died trying

experimental drugs?

Take care, Bill and Charlotte

casunlimited@... wrote:

> Thank you for that astute observation. differences, even minor ones,at the

> cellular level cannot and should not be overlooked as not being a significant

> finding. If what you say is true at the post mortum exam , then atypical PD

> and MSA would be separate diseases. thanks again for you insight . where did

> you get your info .

>

> casunlimited@...

> christopher (chris)

[Guest guest]

There are several neurodegenerative disorders that are very similar to each

other and to Parkinson's Disease, they are known as the " Parkinson Plus "

disorders and include:

Progressive Supranuclear Palsy

Corticobasal Ganglionic Degneration

Multiple System Atrophy

Diffuse Lewy Body Dementia

You can find more information on them at these sites:

Differential Diagnosis of Parkinson Plus Disorders

1995 article by Drs. Mark & ph Jankovic, Baylor College, Texas

http://www.parkinsons-information-exchange-network-online.com/archive/091.ht

ml

Diffuse Lewy Body Disease Presenting as Multiple System Atrophy

Can. J. Neurol. Sci. 1999; 26: 127-131

http://www.canjneurolsci.org/26maytoc/diffuse.html

LEWY-NET

The LewyNet website aims to provide information on dementia with Lewy bodies

http://www.nottingham.ac.uk/~mpzjlowe/lewy/lewyhome.html

LBD Caregivers Support Mailing List

http://groups.yahoo.com/group/LBDcaregivers

PSP Europe Association

http://www.ion.ucl.ac.uk/~hmorris/index.html

Society for Progressive Supranuclear Palsy

http://www.psp.org/

CBGD Support Mailing List

/group/cbgd_support

Corticobasal Ganglionic Degeneration Caregivers Report

http://www.tornadodesign.com/cbgd/

Also read about Tauopathies and Synucleinopathies here:

http://brainpath.medsch.ucla.edu/abstracts/vol9/0904/0904a9.htm

http://brainpath.medsch.ucla.edu/fulltext/0904pdf/dcksntro.pdf

http://www.med.upenn.edu/cndr/research1/tausyn/tausyn.htm

http://www.med.upenn.edu/cndr/patients/ADPDoverview.htm

http://www.med.upenn.edu/cndr/research1/pdchapter/PDchapter.htm

Re: Distinguishing PD From Multiple System Atrophy

> I would appreciate information concerning the differences between PD and

MSA.

> Thank You. Jan

>

[Guest guest]

thank you bill for all the info but can you refer me to the journals or

articles where you got your scientific info. . Its seems that there is some

misinformation about etiology of MSA , and differentiation between MSA and

atypical PD out there . I am looking to clear up the confusion although it

could very well be that research scientists are at different ends of the

spectrum here. Chris

[Guest guest]

thank you for the info . chris

[Guest guest]

I think it is more a manner of termonology at this point. Until 1995 MSA was

called three different things (SDS, OPCA and SND). They decided at that point

that it shound all be called MSA because they all generally ended up with the

same set of symptoms in later stages. How you get there seems to have a great

deal of difference. Many neuro's still refer to it as Shy-Drager, cerebellar

atrophy, atypical PD, etc. Some of those terms are more narrow, and some are

much broader than MSA. More recent medical papers are attempting to tie down a

specific set of symptoms as a standard. However, most doctors will never see a

MSA patient in their life. It is a rare disorder.

In the 80's people with MSA never got to talk to another person with MSA and as

a result, never learned from others how they dealt with the disorder. We now

know far more about MSA just from this list. We knew on the list that making

sure the patient needed to keep hydrated several years ago and that has been

proven with scientific studies recently.

A local movement disorder specialist was holding weekly exercise classes when

Charlotte was first diagnosed as PD in 1990 and pushing it to her patients. I

kept pushing the exercise to Charlotte as we thought all along it was PD plus

more brain atrophy. But Charlotte did not really start the exercise program

until about 1996, because her first neuro kept saying it would not help the

disorder.

Exercise does not stop the brain death, BUT it does help you keep movement as

long as possible. Charlotte's first neuro moved to a different state in 1996

and we started going to DR. Sigmund (she was the movement disorder specialist

pushing the exercise). Charlotte had been going downhill rapidly up to that

time (walking with slight problems as late as 1992, working until April 1994 -

wheelchair bound in early 1996. She started the exercise program in 1996 and

stopped going downhill until an infection hit her in 1998. BUT with rehab and a

PEG to get enough liquids, she came back within months.

Charlotte is over eleven years into this disorder at this point (and about 14-15

years since onset of first symptoms). It is becoming increasingly diffecult to

get her to do the exercises without a therapist and she is losing movement.

That is why I push the movement exercises.

Take care, Bill and Charlotte

casunlimited@... wrote:

> thank you bill for all the info but can you refer me to the journals or

> articles where you got your scientific info. . Its seems that there is some

> misinformation about etiology of MSA , and differentiation between MSA and

> atypical PD out there . I am looking to clear up the confusion although it

> could very well be that research scientists are at different ends of the

> spectrum here. Chris

>

> If you do not wish to belong to shydrager, you may

> unsubscribe by sending a blank email to

>

> shydrager-unsubscribe

>

>

>

>

[Guest guest]

I would like some information if possible. I read that the only way a definite diagnosis of Shy Drager could be arrived was by an autopsy. First of all is that true? Secondly, Dr. Shy now deceased, and Dr. Drager discovered something unique in their "two" patients which were different than other syndromes. Can anyone tell me what they found. Will appreciate some answers. Jan

[Guest guest]

Thank you for your quick response. I am not sure, however, specifically, what the two Drs found that makes Shy-Drager unique. I think other syndromes have constipation problems, otho-static pressure, etc. What is the one thing that definitely diagnosis a person with Shy-Drager. Why can't we know it before an autopsy. It boggels my mind.

Thank you again for trying. You are so kind to respond to so many people with legitimate questions. God Bless. Jan

[Guest guest]

Pam. Thank you so much for the informative E. Mail. I wish I could grasp all the information, however, as a lay person, it is difficult. has all the symptons described as a Shy-Drager patient, before it was called MSA. Irratic blood pressure which rises in lying positions and drops dramatically in standing positions. Constipation is a problem but I watch his diet closely and he is taking all the recommended stool softeners, etc. and etc.

We are doing pretty good in that area. Autonomically, he has problems in the house moving his legs. Sometime they really just freeze in position and not even cursing will get them to move.

He does beautifully in the swimmin g pool, walking across without assistance. It is not the greatest situation but I thank God it is not worse.

Thank you again for trying to make me understand. Maybe i could if we talked about blood as blood, pressure as pressure, the brain as the brain, and blocking the brain as blocking the brain instead of all the medical terms which I don't think too many of us simple caretakers can grasp.

Thanks to all who participate in trying to help one another.

Jan

[Guest guest]

Hi Jan,

It was 1960 when Drs. Shy and Drager first documented the disorder. What

they observed clinically has not held to be true for every single case of

Shy-Drager syndrome since then. Shy-Drager syndrome is now no longer the

proper terminology, the name has changed to Multiple System Atrophy and it

includes two other disorders which were previously thought to be separate

and distinct. Because of medical advances it has been determined that

Striationigral Degeneration and 25% of cases of sporadic

Olivopontocerebellar atrophy have the same underlying cause which creates

plaques inside brain cells. These are known as glial cytoplasmic inclusions

and can only be observed with an autopsy.

Many people diagnosed with Shy-Drager syndrome that have had autopsies

turned out to actually have Parkinson's Disease, Corticobasal Ganglionic

Degeneration, Progressive Supranuclear Palsy, Lewy Body Dementia or ALS and

undoubtedly other neurological disorders as well. The symptoms do not

manifest exactly the same way in each patient and the symptoms overlap with

these other disorders. This is why autopsy is the only way to know with

100% certainty.

In 1998 there was a consensus statement published that described the

criteria required to diagnose " possible " , " probable " and " definite " Multiple

System Atrophy. I've recently received the full text of this statement

which I plan to scan shortly and post here.

This is a short summary of what it says:

" A concensus conference on MSA in 1998 developed diagnostic criteria

based on 4 clinical domains. These findings would then subclassify the

patient into different levels of diagnostic certainty such as possible,

probable and definite. They also recommended that MSA be subdivided into

two catagories based on the prevalent neurosystem involved.

The patients with predominantly parkinsonism would be designated MSA-P

and replace the term striatonigral degeneration.

Patients with idiopathic Parkinsons disease are distinguished from MSA

patients by the lack of autonomic and cerebellar features as well as

their response to Sinemet.

Patients with MSA typically do not benefit from trials of Sinemet. It

may be difficult to distinguish MSA patients from patients with

progressive supranuclear palsy who sometimes develop cerebellar features

or diffuse Lewy body disease which may develop orthostatic hypotension.

The MSA patients with predominant cerebellar features would be

designated MSA-C and replace the term sporadic

olivopontocerebellar atrophy.

Autonomic dysfunction appears in all forms of MSA. Therefore, the term

Shy-Drager syndrome was abandoned by the conference. "

------

This describes how they determine " definite " MSA:

Neuropathology 2000 Neurodegeneration Symposium

The Molecular Pathology of Multiple System Atrophy: a Review

Lantos, P[1] [1]Institute of Psychiatry, King's College London, England

Multiple system atrophy is a sporadic, progressive, adult-onset degenerative

disease of the nervous system, of unknown cause, histologically

characterised by glial cytoplasmic inclusions. A Consensus Conference in

1998 in Minneapolis has defined diagnostic criteria based on four clinical

domains and distinguished according to the level of diagnostic certainty,

possible, probable and definite multiple system atrophy (MSA). The

neuropathology of MSA is characterised by neuronal loss, astrocytosis,

demyelination and the presence of intra-cellular inclusions. These are glial

cytoplasmic inclusions (GCI), neuronal cytoplasmic, neuronal nuclear, and

glial nuclear inclusions, as well as abnormal nerve cell processes. The

diagnosis of DEFINITE MSA requires neuropathological confirmation by the

presence of GCI's. These inclusions occur in satellite, inter-fascicular and

perivascular oligodendrocytes in those parts of the motor and autonomic

systems which are preferentially affected by MSA. They are argyrophilic,

ultrastructurally composed of straight tubules of 20-30nm and they

immunostain with antibodies to ubiquitin, tau and a-synuclein. The tau

profile of GCI is different from Alzheimer's disease, corticobasal

degeneration and progressive supranuclear palsy. Immunohistochemistry for

a-synuclein reveals a more extensive pathology than with antibodies to

ubiquitin and all the inclusions in all five cellular locations are

positively stained. Immunogold investigation has revealed that a-synuclein

is associated with filamentous structures of the inclusions. Conclusions (1)

MSA is different from all the other neurodegenerative diseases, in that

glial pathology appears to be playing a pivotal role in pathogenesis; (2)

GCIs are different from other glial inclusions in their morphology,

ultrastructure and particularly, in their antigenicity: they contain

a-synuclein, tau and ubiquitin; (3) MSA can be defined not only by its

morphology, but also by its biochemistry. This is yet another example that

neurodegenerative diseases should be considered in the framework of

morphology, biochemistry and molecular genetics.

----

I hope this helps.

Regards,

Pam

Re: Distinguishing PD From Multiple System Atrophy

> Thank you for your quick response. I am not sure, however, specifically,

> what the two Drs found that makes Shy-Drager unique. I think other

syndromes

> have constipation problems, otho-static pressure, etc. What is the one

thing

> that definitely diagnosis a person with Shy-Drager. Why can't we know it

> before an autopsy. It boggels my mind.

> Thank you again for trying. You are so kind to respond to so many people

> with legitimate questions. God Bless. Jan

>

[Guest guest]

Jan,

Shy and Drager pointed out autonomic failure as the addition to the

movement problems of PD. SO it was movement disorder (PD symptoms)

plus autonomic failure. Autonomic failure can take many forms such

as OH, impotence, high heartrate, constipation, incontinence, temperature

control, etc. None of us have a definite solid diagnoses. Charlotte

had five years of tests and went to NIH where they said it was "most likely

MSA" and a secondary of "OPCA type". Charlotte does not want

an autopsy, so we will never know for sure - it could be CBGD even.

If you look at the paper on Differential Diagnoses of the PD+ disoders

- you see see that many of them have similar early symptoms. PSP,

CBGD and even PD have similar early symptoms. Since the doctor can't

see into your brain, they have to rely of symptoms. While they can

offer an educated guess after a period of time, there are still those who

are diagnosed incorrectly at death. We recently had someone diagnosed

as PSP turn up with MSA at autopsy and another dignosed as CBGD turned

out to have PSP. This is not an exact science.

None of the tests have proved accurate either. Some of the tests

tun out to be 80% accurate. BUT it does not matter if it is PSP,

CBGD, PD or MSA - at this point in time - they can only treat the symptoms

on any of these disorders. Stressing yourself out over what it is,

only uses more dopamine and causes the symptoms to get worse. Relax,

do your exercises to maintain movement, and wait five years. At that

point, you will have a good idea of what you have. Maybe by then

they will have a cure for one or more of them.

Take care, Bill and Charlotte

===============================

Jandy70@... wrote:

Thank

you for your quick response. I am not sure, however, specifically,

what the two Drs found that

makes Shy-Drager unique. I think other syndromes

have constipation problems,

otho-static pressure, etc. What is the one thing

that definitely diagnosis

a person with Shy-Drager. Why can't we know it

before an autopsy.

It boggels my mind.

Thank you again for trying.

You are so kind to respond to so many people

with legitimate questions.

God Bless. Jan

If you do not wish to belong to shydrager,

you may

unsubscribe by sending a blank email

to

shydrager-unsubscribe

[Guest guest]

Hi Jan,

> Irratic blood pressure which rises in lying positions and drops

dramatically

> in standing positions.

This is called Orthostatic Hypotension by doctors and is one symptom of

autonomic nervous system dysfunction. This is usually managed by

increasing salt intake, drinking lots of water (at least 64 oz per day) and

taking the drugs florinef and/or midodrine. Raising the head of the bed is

also recommended and this reduces urine output at night.

> Constipation is a problem but I watch his diet

> closely and he is taking all the recommended stool softeners, etc. and

etc.

Chronic constipation is also a symptom of autonomic nervous system

dysfunction. Sounds like you are managing this well so far.

>he has problems in the

> house moving his legs. Sometime they really just freeze in position and

not

> even cursing will get them to move.

Freezing in place is a symptom common to Parkinson's disease. Does he take

any of the Parkinson's medications like Eldepryl or Sinemet? If so do they

help?

Regards,

Pam

[Guest guest]

Are any of these diseases genetically transferred?

[Guest guest]

There is a form of Parkinson's that is genetic but this is extremely rare.

The Parkinson's-Plus disorders -->MSA, PSP, CBGD, LBD are all considered

sporadic or non-hereditary.

If you see a hereditary pattern in your family then you need to share this

with the doctors and go back and clarify the diagnosis.

Regards,

Pam

Re: Distinguishing PD From Multiple System Atrophy

> Are any of these diseases genetically transferred?

>

[Guest guest]

Dear Bill and Charlotte, How special you are to take the time to give such a wonderful explanation. I am the caretaker of my husband . There is no doubt in my mind. He has MSA. I have tried to read whatever is available concerning MSA.

I am convinced he was not diagnosed for approximately six or more years based on the symptons, but, was diagnosed Shy Drager Feb 20th of this year. As you say dear people, what difference does it make what the name of the symptons are. Very few Drs. locally know how to treat him. I have accepted his

condition. Take his blood pressure in three different positions every morning. Sometimes again during the day. He is on

Plavis, Florineff, Megas, Zoloft, Vitamins. In the evening he has Colace and Endulose, which thank God is working.

I tried to get him into the pool atleast three or four times a week and he does very well in the water. His movements at home are limited. Mostly in a wheelchair. When he does walk, limited, with a walker, his left leg on ocassion freezes.

With everything that is going on, life is still O.K. We know what is, we know what will be and we are concentrating, not on what can't be done, but, rather on what we can do.

I think the best medicine for this type of illness is the ability to adapt and accept.

Thank you Bill and Charlotte for obviously caring about people

with tough conditions. Again, I think you must be very special.

Jan

[Guest guest]

Greetings Becky!

You asked:

> Errr I guess this is where I ask a question.....

>

> My father has been diagnosed with MSA. My grandfather

> died over 30 years ago with symptoms almost exactly

> the same as my Dad. Are there questions I should be

> asking my doctor?

Hmmm... Not questions, as much as a possible process, is what I would

recommend.

First, you need to find out if your father was tested for any known

hereditary Spinocerebellar Ataxias:

http://www.geneclinics.com/profiles/ataxias/index.html

Next, is your father showing signs of autonomic nervous system failure? If

so, does it include something as obvious as orthostatic hypotension or

sweating problems? The reason I ask is that some of the hereditary ataxias

also include bladder and bowel movement problems. This would be a good

candidate if he has

If his problems are primarily Parkinsonian, there may be a test for the

inherited form of Parkinsons Disease.

You may want to consider DNA Banking ... this involves storage of DNA

extracted from white blood cells. You would need a sample from your father,

so that it would be available in the future as genetic diagnostic tests

progress.

Finally, some genetic questions? Is your father an only child? If not, do

any of his siblings show similar symptoms? Is your father the only male

sibling? Any relatives descended from your grandfather's siblings? Do they

show any similar symptoms?

IF this is inherited, since your grandfather and father both have similar

symptoms, this might be either linked to the Y chromosome or autosomal

dominant. In other words, it's passed only to male children via a defect in

the Y chromosome. Or it is linked to another gene and is passed from parent

to child. In that event there would be a 50% chance that a child would

inherit the gene from the parent. There are no 'carriers' in a autosomal

dominant genetic defect .. either you have it or you don't.

Is the age at onset similar between your father and grandfather? How are

the symptoms similar and different?

Anyway, you get the idea of the type of information you might need. A

*complete* family history is necessary to determine if this is a genetic

defect that doctors have already identified or one specific to your family.

Regards,

=jbf=

B. Fisher

[Guest guest]

As usual thanks for the great advice!!

Becky

Configuration Manager

Argogroup

t: +44 (0) 1252 705770

f: +44 (0) 1252 705706

e: becky.davis@...

w: www.argogroup.com

Re: Distinguishing PD From Multiple System Atrophy

>

>

>

> mooneyg@... wrote:

>

> Are any of these diseases genetically transferred?

>

> There are some ataxias (movement disorders) which are genetically

> transferred. Some of the OPCA forms are and even some PD is

attributed

> to gene problems. However, MSA is not by definition. Only the

sporatic

> type of OPCA is considered hereditary at this point. To our knowledge

> there have never been two people in the same family with MSA.

>

> Take care, Bill and Charlotte

> If you do not wish to belong to shydrager, you may

> unsubscribe by sending a blank email to

>

> shydrager-unsubscribe

>

>

[Guest guest]

Hi Becky,

The protocol to follow would be to have your father's doctor test him

first for the known SCA genes. If he is found to be positive for one of

the types then you and any siblings you have would need genetic

counselling to help you determine if you wanted to pursue " predictive

testing " . If he is negative for all types then there is no point in

testing you and putting you through that stress. If it should turn out

he is positive for one of the types please write me as I can connect you

with others who've gone through the predictive testing process.

Take care,

Pam

Werre wrote:

>

> Becky,

>

> The genes for many hereditary ataxias are known and a DNA check for those

> genes is a simple blood test (which takes longer to analyze). With my

> insurance most of it would be covered. Ask your doctor about it.

>

> Take care, Bill and Charlotte

>

> =============================

>

> Becky wrote:

>

> > Errr I guess this is where I ask a question.....

> >

> > My father has been diagnosed with MSA. My garndfather died over 30

> > years ago with symptoms alsmost exactly the same as my Dad. Are there

> > questions I should be asking my doctor?

> >

> > I have just come back from a weeks holiday with my Mum and Dad and my

> > daughter. Boy was it great but hard work! It was like taking three

> > toddlers mind you not just the one.

> >

> > Becky (UK)

> >

> >

> >

> > : Werre

> > Sent: 04 September 2001 15:16

> > To: shydrager

> > Subject: Re: Distinguishing PD From Multiple System Atrophy

> >

> >

> >

> > mooneyg@... wrote:

> >

> > Are any of these diseases genetically transferred?

> >

> > There are some ataxias (movement disorders) which are genetically

> > transferred. Some of the OPCA forms are and even some PD is attributed

> > to gene problems. However, MSA is not by definition. Only the sporatic

> > type of OPCA is considered hereditary at this point. To our knowledge

> > there have never been two people in the same family with MSA.

> >

> > Take care, Bill and Charlotte

> > If you do not wish to belong to shydrager, you may

> > unsubscribe by sending a blank email to

> >

> > shydrager-unsubscribe

> >

> >

[Guest guest]

So if it was hereditary it wouldn't be MSA but a hereditary ataxia?????

Same symptoms and same " non-treatment " but a different name as it is

hereditary?

MAny thanks

Becky (UK)

RE: Distinguishing PD From Multiple System Atrophy

Greetings Becky!

You asked:

> Errr I guess this is where I ask a question.....

>

> My father has been diagnosed with MSA. My grandfather

> died over 30 years ago with symptoms almost exactly

> the same as my Dad. Are there questions I should be

> asking my doctor?

Hmmm... Not questions, as much as a possible process, is what I would

recommend.

First, you need to find out if your father was tested for any known

hereditary Spinocerebellar Ataxias:

http://www.geneclinics.com/profiles/ataxias/index.html

Next, is your father showing signs of autonomic nervous system failure?

If so, does it include something as obvious as orthostatic hypotension

or sweating problems? The reason I ask is that some of the hereditary

ataxias also include bladder and bowel movement problems. This would be

a good candidate if he has

If his problems are primarily Parkinsonian, there may be a test for the

inherited form of Parkinsons Disease.

You may want to consider DNA Banking ... this involves storage of DNA

extracted from white blood cells. You would need a sample from your

father, so that it would be available in the future as genetic

diagnostic tests progress.

Finally, some genetic questions? Is your father an only child? If not,

do any of his siblings show similar symptoms? Is your father the only

male sibling? Any relatives descended from your grandfather's siblings?

Do they show any similar symptoms?

IF this is inherited, since your grandfather and father both have

similar symptoms, this might be either linked to the Y chromosome or

autosomal dominant. In other words, it's passed only to male children

via a defect in the Y chromosome. Or it is linked to another gene and

is passed from parent to child. In that event there would be a 50%

chance that a child would inherit the gene from the parent. There are

no 'carriers' in a autosomal dominant genetic defect .. either you have

it or you don't.

Is the age at onset similar between your father and grandfather? How

are the symptoms similar and different?

Anyway, you get the idea of the type of information you might need. A

*complete* family history is necessary to determine if this is a genetic

defect that doctors have already identified or one specific to your

family.

Regards,

=jbf=

B. Fisher

[Guest guest]

Greetings Pam!

May I refine your statement a bit:

> Bill meant to say that there are both non-hereditary

> (sporadic) and hereditary forms of OPCA.

True.

> The non-hereditary (sporadic) form of OPCA is

> considered to be Multiple System Atrophy.

Not quite true, and this is where it gets VERY confusing.

Some people develop OPCA (Olivopontocerebellar Atrophy) for no known reason.

Once all possible physiological or psychological reasons (tumor, diabetes,

Ataxia due to Vitamin E deficiency, stress, etc.) are eliminated, then it's

time to move onto genetic testing.

To quote from the Merck Manual:

http://www.merck.com/pubs/mmanual/section14/chapter179/179g.htm

SPINOCEREBELLAR DEGENERATIONS

A group of disorders characterized by progressive

ataxia due to degeneration of the cerebellum,

brain stem, spinal cord, peripheral nerves, and,

occasionally, the basal ganglia.

Many of these syndromes are hereditary; others are

sporadic. Spinocerebellar degenerations can be

broadly categorized as predominantly spinal ataxias,

cerebellar ataxias, or multiple systems atrophy...

Most people with OPCA either have a hereditary form or a sporadic

(NON-hereditary) form. Even when someone does not have a clear history of

Spinocerebellar Ataxia (SCA) in their family it is wise to test for some of

the recessive forms of SCA. Such as Friedreich's Ataxia (FRDA), which

doctors and researchers now know can surface as Late Onset FRDA. Normally

this is considered a childhood disease, but some people do not start to show

symptoms until their third or fourth decade.

So, we eliminated physiologic and psychological reasons. We eliminated

hereditary causes. We are now left with true Sporadic OPCA cases.

But will all of them develop into full blown Multiple Systems Atrophy (MSA)?

Absolutely not. Most (75%) of the Sporadic OPCA cases will remain just

cerebellar ataxias; that is, it only impacts the cerebellum. Only 25% (a

fairly small percentage) will develop into MSA.

By the way, the definition in the Merck Manual shows some of the problem

with consistent diagnosis of these conditions:

Spinocerebellar degenerations can be broadly

categorized as predominantly spinal ataxias,

cerebellar ataxias, or multiple systems atrophy...

This definition actually includes the possibility of a hereditary form that

can impact more than just the cerebellum. FRDA is a good example. It

impacts the cerebellum, brainstem, upper spine and heart. But it is not

considered part of MSA.

All three forms of MSA (MSA-A .. SDS, MSA-P .. SND, and MSA-C .. OPCA)

appear to result from a common defect within some cells of the central

nervous system. Unfortunately, at this point a definite diagnosis can only

be done post-mortem. Based on research into the etiology (the study of the

cause) of MSA, it is not hereditary. So, a diagnosis of MSA specifically

excludes hereditary forms of OPCA.

The following MRI and PET scans show how someone with Sporadic OPCA can have

atrophy and poorly performing brainstem and cerebellum:

http://pet.med.va.gov:8080/demos/ataxia.html

This is a great example of someone with Sporadic OPCA that may well have

MSA. (The brainstem and cerebellum are involved).

So, in summary. Someone with Sporadic OPCA but no autonomic or Parkinsonian

symptoms has a 25% chance of developing MSA in the future. But this

requires that extensive testing be done to eliminate possible hereditary

forms of SCA (OPCA). It requires elimination of other causes due to some

physical abnormality.

Perhaps the following diagram might help:

+------------------------+

|+----------+ SCA / OPCA |

||Hereditary| | +--------+

|+----------+ +---------------+ |

| |Non-hereditary | MSA |

| +---------------+ |

+------------------------+ +--------+

Not all people with OPCA have a hereditary form. Most people with Sporadic

OPCA do NOT have MSA. A few people (25%) with Sporadic OPCA have MSA. No

one with a hereditary form of OPCA/SCA has MSA.

Pam, I know you understand this, but thought others might find this helpful.

Sorry for the length of the explanation, but hope it helps.

Regards,

=jbf=

B. Fisher