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Thread: Familial Spastic Paraplegia - Newby

  1. #31
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    A bit of news about HSP research.

    The National Centre for Adult Stem Cell Research (Brisbane, Australia) will launch a pilot study into a devastating genetic disease in which active young people progressively develop paraplegia.

    The little-known disease, hereditary spastic paraplegia, has about 1000 diagnosed sufferers in Australia, but the mutations responsible may lurk in the genes of an unknown percentage of the population.The study will use adult stem cells from people with hereditary spastic paraplegia to test new treatments to restore nerve function damaged by the disease.
    The $100,000 funding for the study presented to the Centre was raised by people with the disease through the HSP Research Foundation. The participants will donate their cells to create a ‘bank’ of adult stem cells for the study.

    The project is led by Centre Director Prof. Alan Mackay-Sim and Centre Group Leader, neurologist associate professor Carolyn Sue of Sydney’s Kolling Institute of Medical Research. “We believe this will be the world’s first collection of stem cells from people with this disease,” Mackay-Sim said. “The pilot project will take biopsies from at least 10 people with HSP, all of whom have mutations in the SP4 gene. This mutation is present in about 40 percent of sufferers.” The team will grow and differentiate these into nerve cells then assess the function of the SP4 gene compared to cells from a control group of healthy volunteers. We will then use the screening facilities at Griffith University’s Eskitis Institute to test candidate drugs to correct the cellular functions caused by the mutation. We hope to generate pilot data to take to other funding agencies.”

    President of HSP Research Foundation Robin Bligh said the rarity of the disease meant little research had been conducted worldwide. “Some of the genes responsible have been identified to enable genetic testing but there is no cure on the horizon,” he said. “The Foundation has been unsuccessful in securing government and philanthropic grants because
    the disease is seen as rare. But the prevalence could be much higher as it is often misdiagnosed as anything from MS to severe arthritis.” He said while most cases result from a single parent with a dominant defective gene, it is also possible for two people who unknowingly carry a recessive defective gene to pass the disease to their children, although they themselves exhibit no symptoms.

    Its existence may not be revealed until the sufferer is aged between 20 and 40 and begins to experience muscle weakness causing difficulty walking. The early onset means a young person with the disease faces the prospect of spending up to 80 years of their life incapacitated by the disease.

    Contact:
    http://www.griffith.edu.au/science/n...-cell-research

    Ian

  2. #32
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    Thanks for the update Ian. It's good to know that research for HSP (that's what I have) is being done worldwide and hopefully someday they'll have some answers.

  3. #33
    Junior Member whity's Avatar
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    Hi everyone

    This thread is quite popular now. Its nice to know Im not the only 1 out there with HSP.
    Just letting u know. I started doing acupuncture and taking chinese medicine. I have a good feeling about the practitioner. Im walking in the ocean, balancing on my balance board and things seem pretty sweet right now.
    Ill see how long it lasts.
    CYA

    Andrew

  4. #34
    Junior Member whity's Avatar
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    Thumbs up hi

    Merry Christmas everyone.
    Have a great day

  5. #35

    hsp

    Hi i was diagnosed with hsp in 2009 dont no much about it

  6. #36
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    Quote Originally Posted by legs79 View Post
    Hi i was diagnosed with hsp in 2009 dont no much about it
    Hi,

    It'd be worthwhile you joining, or at least checking out, the Yahoo HSP Support Group, all the info you want can be found there http://health.groups.yahoo.com/group/HSP_friends/

    Ian

  7. #37
    Super Moderator Sue Pendleton's Avatar
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    Ian's site can probably help you more than I can. HSP is rarer than almost all the other non-traumatic reasons for SCIs. Feel free to ask anything you want to know and we'll try to answer it though.
    Courage doesn't always roar. Sometimes courage is the quiet voice at the end of the day saying, "I will try again tomorrow."

    Disclaimer: Answers, suggestions, and/or comments do not constitute medical advice expressed or implied and are based solely on my experiences as a SCI patient. Please consult your attending physician for medical advise and treatment. In the event of a medical emergency please call 911.

  8. #38
    Senior Member willingtocope's Avatar
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    I'm sorry to jump to the end of this thread but I'm pressed for time right now and I wanted to make a couple of quick points.

    Dr. Fink is a colleague of a Neurolist I trust veru much at the Med Univ of Ohio who suggested I go see Dr. Fink when I first started having problems with my legs 5 yrs ago. The key part of the dx is "Hereitary". In my case, with a very large extended family, no one els exhibits similar symptoms.

    According to the Mayo clinic...I have MS...similiar symptoms, but not known to run in families.

    See a good neurolist...get a full MRI series done...both with and without contrast before you worry about passing something on to your kids.

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