Value of stem cell models of HSP

Discovery of potential treatments


This publication is an elegant and comprehensive summary and review by the HSP research program team of the progress and discoveries over the past decade in studies supported by this Foundation. The findings and conclusions make a strong case for the clinical drug trials that we are currently pursuing.


. . .

This graphic neatly summarises the impairment that occurs in the axons of HSP neurons derived from stem cells in the lab and the restoration of those functions observed with the application of tubulin-binding drugs.


Here is a link to the full publication for those with an appetite to understand more of the biology and the science that has brought us to this point.


Dr Gautam Wali
Prof Carolyn Sue
Prof Alan Mackay-Sim


Hereditary spastic paraplegia is an inherited, progressive paralysis of the lower limbs first described by Adolph Strümpell in 1883 with a further detailed description of the disease by Maurice Lorrain in 1888. Today, more than 100 years after the first case of HSP was described, we still do not know how mutations in HSP genes lead to degeneration of the corticospinal motor neurons. This review describes how patient-derived stem cells contribute to understanding the disease mechanism at the cellular level and use this for discovery of potential new therapeutics, focusing on SPAST mutations, the most common cause of HSP.


SOURCE: Brain Sci. 2018 Jul 31;8(8). pii: E142. doi: 10.3390/brainsci8080142. PMID: 30065201


Patient-Derived Stem Cell Models in SPAST HSP: Disease Modelling and Drug Discovery.

Wali G1, Sue CM2, Mackay-Sim A3.

1 Department of Neurogenetics, Kolling Institute of Medical Research, The University of Sydney, Sydney, NSW 2065, Australia. [email protected].

2 Department of Neurogenetics, Kolling Institute of Medical Research, The University of Sydney, Sydney, NSW 2065, Australia. [email protected].

3 Griffith Institute for Drug Discovery, Griffith University, Brisbane, QLD 4111, Australia. [email protected].

1 comment

  1. (Translation from Catalan)
    I have the disease, I have had analyses done in Spain, if it is for research, I could send them.
    And I also offer myself, to help in the search for a cure.
    Thank you very much especially to Dr. Sue, Dr. Gautam, Dr. Mackay-Sim, and to all the other people I do not know but who are working to cure many people.

    tinc la malaltía,tinc analisis fets a Espanya, si serveix per la investigació, els hi podría enviar.
    I també m´ofereixo, per ajudar en la recerca de la cura.
    Moltes gràcies especialment a la Dra Sue, al Dr Gautam, al Dr Mackay-Sim, i a totes les altres persones que no conec però que estan treballan per curarnos a molta gent.

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