PLS ALS HSP

[Guest guest]

Hi Kathi,

The ALS Therapy Development Foundation is in a race

against time to save the lives of people stricken with

ALS. The founders of the ALS-TDF are a family that

has an ALS member, . was diagnosed at

age 29, in 1998. They are trying to find answers

before it takes 's life, as well as many other

ALSers. So they focus their work on things that have

a potential to make a difference for ALS victims.

They look at any possible area and ask themselves,

" What are the chances? "

I spoke with Heywood and the head of R & D,T.

Ramesh, on Monday. I sent discussed HSP with them (as

well as PLS) and sent them information, including

links to Dr. Fink. It will be up to them to determine

if they can take any of that information an " go " with

it. But I would imagine that anything they do will

have the " ALS " spin on it, not an " HSP " because they

really have their plate full in finding answers for

ALS.

The main reason PLS is showing up on their website is

because of Siddique's discovery of the ALS2 gene that

includes mutations for ALS and PLS on the same gene.

It provides clues for a small group of ALSers. But,

it will be up to that group, and PLSers, to push for

more research in this area. Especially, because the

ALS2 gene behaves very differently from the SOD1 gene.

We won't know how many would be benefited from the

research until it is actually done.

=====

Thomson, Solana Beach, CA

www.geocities.com/mdmfoo/pls.html

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[Guest guest]

Hi Bonnie,

I have HSP. I joined the PLS Friends group because HSP and PLS are allied

disorders, and because I am working with people from both communities to form a

foundation to serve both. According to Dr. Fink, they are under the same

umbrella. He is on the foundation steering committee.

Both disorders share the primary symptom of spastic paraparesis - weakness and

spasticity in the legs. It is slowly progressive, and many people end up needing

a cane and later w/c. Both also have other possible symptoms, depending upon

which particular gene you have.

There is no bulbar problem with HSP, so people diagnosed as PLS who do not

develop bulbar problems over time may in fact have HSP instead.

Most neuros don't know much about either. Many HSPers end up diagnosed

incorrectly with CP, MS, ataxia, etc. Some PLSers are really HSPers, but it's

not likely HSPers are misdiagnosed as PLSers because they don't have the bulbar

problems.

HSP is hereditary spastic paraparesis. Despite the word " hereditary " , up to 30%

of us don't have family history. Depending upon their neuro, they might be

diagnosed with PLS (because it isn't hereditary) or apparently sporadic HSP.

There are many reasons why there may not be family history - people can die

before the disorder presents itself but it was passed on to children, parents

can develop symptoms very late in life yet their children develop them at a

younger age (sometimes it is the child who gets diagnosed first!), there may not

be " penetration " of the gene - which means it's there but just doesn't work

(good for you, but bad because you can still pass it on), a mutation always

starts somewhere with the first person in a family, and other reasons.

You can read a lot about HSP at: HSPinfo.org. My sister Cheryl is the

webmaster. She started it 4 years ago to learn about HSP since our mother has

it, and I do. So far she is lucky to not show symptoms so we pray she doesn't

have it.

So, it is similar to PLS. It doesn't affect length of life - its just causes

worsening stiffness and spasticity and other symptoms in some cases.

Good luck.

Then again, a name is a name is a name...

Kathi

HSPer

[Guest guest]

Bonnie,

I forgot to answer about treatment. It's the same as for other diseases causing

spasticity (baclofen, etc.) and for chronic illness is general (i.e. depression

problems).

We are encouraged to do physical therap/exercise, stress reduction, good

nutrition, keep weight down.

Those sound like typical New Year's resolutions, LOL.

Kathi

HSPer

[Guest guest]

--- Kathipro@... wrote:

Dr. Fink said at a May conference he felt treatment

for this umbrella of disorders is achievable in 5

years. I hope he's right.

Kathi,

I hope he's right also! I think it is going to depend

on a number of things, though. The technology has

advanced to a point where we can now say that it is

possible. But making it happen is another thing.

Since typical PLS has a 20 year course, 5 years is a

lot of time for us, especially when you add the years

that we've already had symptoms. The big guestion is

, will they be able to stop progression AND fix the

damage (grow new neurons to replace the dead ones)? I

think eventually, we will have the fix, but in the

beginning, it will be a matter of halting the process

that causes the neuron death (or fraying in HSP).

I know one thing, I will do anything I can to help

make this a reality.

=====

Thomson, Solana Beach, CA

www.geocities.com/mdmfoo/pls.html

__________________________________________________

[Guest guest]

Can someone explain to me what HSP is. Until now, I had never heard of it.

If the symptoms of HSP and PLS are pretty much the same, does it make a

difference what the diagnosis is? Is there a treatment for HSP? a cure?

a better/worse prognosis?

thanks

Bonnie

Re: PLS ALS HSP

> In PLS-FRIENDS@y..., <mdmfoo@y...> wrote:

> > The ALS Therapy Development Foundation has totally

> > redone their website. There are a few things I'd like

> > to bring to PLSers attention.

> > 1) They list PLS as a type of ALS.

>

> Hi, ,

>

> They do a great job with their web site!

>

> I'm wondering, since they now include PLS, do you know why they didn't

also

> include PLS's cousin HSP?

>

> I'm by no means a medical person, but I know from being an active HSP

> volunteer, attending patient conferences and educating myself on these

> disorders, that PLS and HSP are closely allied disorders.

>

> Dr. Fink, the recognized expert in HSP, says that progressive spastic

> paraparesis is the dominant symptom for both PLS and HSP. In layman's

terms,

> that means increasing weakness and spasticity of the legs.

>

> He says as many as 1/3 of the people diagnosed with HSP have no family

> history and that many people diagnosed with PLS do not have voice

problems.

> That makes misdiagnosis frequent.

>

> Even ALS can look like HSP or PLS in the beginning, as all three can pass

> through stages in which they are clinically indistinguishable. It's a

> waiting game to see what happens as time moves on for a proper diagnosis.

>

> The bottom line is, all 3 are caused by degeneration of nerves. It can

occur

> in the upper motor neurons, in the ends of the long axons in the spinal

cord,

> or in the lower motor neurons.

>

> What's so exciting is that research into any of these disorders may be

> applicable to all. Neural degeneration is neural degeneration.

>

> It's great there are foundations supporting research and providing patient

> education and support. It's so important. I'm really excited about

hopes

> for a new foundation specifically focusing on HSP, PLS and a couple of

> smaller allied disorders as well. I know a cure is around the corner.

>

> And, I can understand your excitement about mouse models!! Dr. Fink is

> conducting them and says he has some wobby mice. His recent discovery of

a

> gene for HSP-childhood onset was just published, and he wants to develop a

> mouse model for that, as well.

>

> It's an exciting time for us all.

>

> regards,

> kathi

> HSPer, for sure

>

>

>

>

[Guest guest]

Do you know yet where close to airport?

Hi Jane Anne,

I'm waiting to hear from 2 people in Atlanta who are helping me. It looks like the Airport Marriott, at a cost of $30 for lunch and meeting room.

They are also looking into restaurants that have have small banquet rooms for luncheon meetings. They mentioned Barbeque Chicken across from the Holiday Inn and 's Steak House and Shoney's but I don't know where those are. Those would be less $, but will only work if they have meeting rooms. It wouldn't work to just sit in open space in the restaurant, especially if we end up having a researcher join us.

I believe we will have more than 2 dozen people - maybe 30 or more.

As soon as I have more info, I'll pass it. Sorry I don't have the answer. I have a 3:30 flight out so it must be near the airport.

looking forward to meeting you,

Kathi

HSPer

[Guest guest]

Kathi

There will be a SEC Champion Game in Atlanta on Saturday night before we meet on Sunday. We are coming up on a Saturday night to get a room until we meet on Sunday. So I have to make plans very quick. Do you know yet where close to airport?

Sincerely

Jane Anne King

Re: Re: PLS ALS HSP

Bonnie,I forgot to answer about treatment. It's the same as for other diseases causing spasticity (baclofen, etc.) and for chronic illness is general (i.e. depression problems). We are encouraged to do physical therap/exercise, stress reduction, good nutrition, keep weight down.Those sound like typical New Year's resolutions, LOL.KathiHSPer

[Guest guest]

Hello group,

I've had a few people asking for more information comparing PLS, ALS and HSP in

regards to the degeneration that occurs. Here's some information I pulled from

a letter from Dr. Fink (his words):

" First, the term 'motor neuron' refers to cells that originate in gray matter

of the spinal cord known as the 'anterior horn'. Motor neurons are the second

set of nerves in the motor system. The first set, the 'cortico-spinal nerves',

originate in the brain motor cortex and send their processes through the spinal

cord. The 'cortico-spinal' nerves synapse on, and stimulate, the 'motor

neurons'.

In ALS, there is marked degeneration of the motor neurons (within the spinal

cord) as well as moderate to marked degeneration of cortico-spinal tracts.

In HSP, there is marked degeneration of corticospinal tracts and sometimes minor

loss of anterior horn cells (motor neurons). A separate set of sensory nerves

in the spinal cord, the " dorsal columns " are also

involved in HSP.

PLS involves marked degeneration of corticospinal tracts (and their

corresponding nerves that innervate muscles of speech). Classically, there is

no significant loss of motor neurons in PLS.

As you can see, there is overlap in the anatomical involvements in these related

conditions.

Because HSP and PLS do not involve severe loss of anterior horn cells (motor

neurons) they would not be classified as motor neuron disorders.

The recent gene that was cloned for PLS was actually not found for 'typical PLS'

(a sporadic disorder affecting adults). This gene was identified in subjects

with family history of similar disorder. We have seen a number of these

patients. We diagnosed them as having 'autosomal recessive, complicated,

hereditary spastic paraplegia'. This same

condition is diagnosed by Dr. Siddique and other investigators as 'familial

PLS/ALS'. "

Hope that helps.

Kathi

HSPer

[Guest guest]

Hi !

This is Beth! I , too, will do anything to help with a cure!

[Guest guest]

Also, here is info from Dr. Armon's paper

describing motor neurons:

Thanks for taking the time to share his opinions, . Not only are medical explanations confusing to us lay people, but the researchers sometimes have different opinions.

Whatever *they* call it, *I* call it a pain in the a____ and a challenge to deal with!

Hopefully, with all the work our communities are doing to speed research and provide education and support, it makes a difference and will make a difference. Thanks for all you are doing.

take care,

kathi

HSPer

[Guest guest]

--- Kathipro@... wrote:

>

> The recent gene that was cloned for PLS was actually

not found for 'typical PLS' (a sporadic disorder

affecting adults). This gene was identified in

subjects with family history of similar disorder. We

have seen a number of these patients. We diagnosed

them as having 'autosomal recessive, complicated,

hereditary spastic paraplegia'. This same condition

is diagnosed by Dr. Siddique and other investigators

as 'familial PLS/ALS'. "

>

Kathi,

The fact that Dr. Fink chooses to call " familial ALS

and PLS " 'autosomal recessive, complicated, hereditary

spastic paraplegia', is very confusing, and possibly

counterproductive.

I'm not sure I understand the logic here. Is it

because of the " familial " aspect that makes Dr. Fink

call these particular diseases complicated HSP, or is

it the early onset? Is Dr. Fink suggesting that

Hawking, the physicist really has " apparently

sporadic complicated HSP " instead of ALS2?

Or is it just PLS that he is referring to? If ALS has

a sporadic form, a familial form, a juvenile onset

form, etc., and Spastic Paraparesia has a sporadic

form, a familial (hsp)form, a juvenile onset form,

etc., then why doesn't PLS have a familial form, let

alone a juvenile onset form?

Or is it that Dr. Fink doesn't recognize the

distinction between Spastic Paraparesia and Primary

Lateral Sclerosis?

Thomson

=====

Thomson, Solana Beach, CA

www.geocities.com/mdmfoo/pls.html

__________________________________________________

[Guest guest]

In light of recent conversations about PLS and what it

has in common with ALS and HSP, I've copied a

statement from an abstract (that follows): " The

distinction between ALS and PLS is related to the

degree and stability of lower motor neuron

involvement. "

Dr. Siddique told me that some PLSers never, even

after 20 years, develop significant lower motor neuron

signs. But some do and eventually go on to being

re-diagnosed with ALS. What really matters is not the

name of ALS or PLS, just that the disease remains slow

in progression, meaning we might have time for a cure.

The thing that is frightening about evolving into ALS

is the fear of rapid decline and death, not the name

ALS. But if the disease remains slow in progression,

then hope can replace fear.

Anyway, that is how I view it. When I first thought

fasciculations couldn't happen to PLSers, and I was

experiencing them, I was scared. Now that I know they

can happen without meaning rapid progression, or a

re-diagnosis to ALS, I don't get stressed out over

them.

The authors of this abstract are the same as the one

posted a while ago, Does PLS Exist? Here is the

abstract:

J Neurol Sci 2001 Apr 1;185(2):95-100 Books, LinkOut

Primary lateral sclerosis: further clarification.

Le Forestier N, Maisonobe T, Spelle L, Lesort A,

Salachas F, Lacomblez L, Samson Y, Bouche P, Meininger

V.

Federation de Neurologie Mazarin Professeurs Delattre

et Meininger, Hopital de la Salpetriere, 47 Boulevard

de l'Hopital, 75013, Paris, France.

Primary lateral sclerosis (PLS) has been defined as a

rare. Non-hereditary disease characterized by

progressive spinobulbar spasticity, related to the

exclusive involvement of precentral pyramidal neurons,

with secondary pyramidal tract degeneration and a

preservation of anterior horn motor neurons, the

latter allowing PLS to be distinguish from amyotrophic

lateral sclerosis (ALS). However, a clear distinction

between the two diseases remains a subject of debate.

With this in mind, we assessed patients with meeting

the previously published criteria for PLS in a

prospective, longitudinal study.At regular intervals,

we analyzed various clinical and electrophysiological

parameters in nine patients with a diagnosis of PLS.

We made a deltoid muscle biopsy and PET study.Our

results provide evidence that degeneration in PLS is

not restricted to the upper motor neurons but also

affects the lower motor neurons. The distinction

between ALS and PLS is related to the degree and

stability of lower motor neuron involvement.In view of

the similarities with ALS, we consider that PLS may

represent a slowly progressive syndrome closely

related to this disease.

PMID: 11311289 [PubMed - indexed for MEDLINE]

=====

Thomson, Solana Beach, CA

www.geocities.com/mdmfoo/pls.html

__________________________________________________