HSP Research update March 2015

Progress report from the research team


Principal Investigator, Prof Alan Mackay-Sim, provided the following update:


Dr. Yongjun Fan
Dr. Yongjun Fan

Non-SPG4 HSP investigation

Fan is continuing to work on specifying the similarities and differences between nasal stem cells from HSPers with spastin (SPG4) mutations and those with non-spastin mutations, using the automated microscope and automated image analysis. Data analysis indicates the cellular pathology of HSP is different in some ways in people with and without spastin mutations, but the challenge is to find how they are similar and whether drugs active with the spastin mutation will also be effective with non-spastin mutations. The work on peroxisome trafficking has been on hold because the live cell microscope has been out of action but has now been repaired.


In December, Professor Weiliang Zhu visited our institute. Professor Zhu is the director of the Drug Discovery and Design Centre at the Shanghai Institute of Materia Medica, Chinese Academy of Sciences. Fan used the HSP stem cells and tested some potential drug candidates made by Professor Zhu. Fan and Professor Zhu are aiming to set up a formal collaboration for drug discovery for HSP. They intend to apply for grants from both Chinese and Australian sources.


Gautam Wali, Ph.D. candidate
Gautam Wali, Ph.D. candidate

iPSC project

We have now genetically engineered HSP cells from patients’ tissue samples to turn them into iPSCs (induced pluripotent stem cells) in the attempt to grow corticospinal neurons with HSP. These are the upper motor neurons that are primarily affected by HSP.


This involved infection with a virus that does the genetic engineering, followed by two months of cell culture that then eliminates the virus from the cultures. The work is about half way through that two-month elimination phase. The current focus is on planning the next steps of quality control that happens at the end of the 8 weeks, as the challenge of growing uniform and stable iPSCs that are both suitable and reliable for experimentation is a major one.


Prof. Alan Mackay-Sim
Prof. Alan Mackay-Sim

Mouse project and forward planning

The HSP mouse colony has been breeding while in quarantine, from which they will soon be released and that project can then really get underway. Forward planning towards funding and regulatory considerations associated with the application for early stage human clinical trials is taking place.


  1. Hello, I have the disease.
    My grandfather, my father and one of my four brothers, also have the disease.
    Have genetic analysis and gene mutation found in me and in my brother.
    If you can help in the investigation of the cure, I could send the documentation that I have.
    Thank you very much for this work, I hope with all my heart they succeed.

    Josep (Barcelona – SPAIN)

    1. Editor’s Note: Planning is still underway for a registry of people with HSP. Hopefully everyone who wants to can add their data to it. There will be widespread publicity when it is available.

  2. Hi, I am 58 years old and was diagnosed with HSP when I was 53 though my neurologist suggested that I had most likely been living with an extremely mild version of the condition for some time. I think, from the research that I have done and my neurologist may have told me this at some point, that I have Sporadic HSP as none of my relatives, past or present, to my knowledge have or had this condition.

    Sometimes I feel great and walk really well and other times I have periods of being 2 steps away from a wheelchair. It is so weird. When it gets worse or gets better, it happens so quickly that I am taken by surprise. Does anyone else experience these sudden changes? They don’t happen very often. Keep up the good work, it is thrilling to know that the research community cares about this potentially debilitating condition. Cheers, Sharyn

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