Friday, 19 August 2016

Spatax Meeting - Papers, Day 3

This is the fourth and final instalment of the papers presented, this time the third day. As previously, the papers were a mix of HSP and Ataxia papers, and I focused on paying most attention to the HSP papers.

Evan Reid ( talked about discovering some unifying mechanisms within HSP. He noted that that there are more than 50 genes affected by HSP, but there are a few common themes across these different genes, including cell membrane traffic. Evan noted that Spastin (the protein produced by the Spast gene, and affected by SPG4) has two different forms (or isoforms). There is some redundancy between these forms, but both need to be affected for HSP to show.

Tim Newton ( talked about age of onset for HSP, noting that the HSP's with point mutations tend to have later onset than those with deletion mutations. He also reported that the effects of HSP were bigger when the deletions were larger, particularly if the deletion extended to the next gene along.

The second session focused on diagnostics.

Stefania Magri ( gave an overview of next generation sequencing (NGS) panels, noting the potential for mis-diagnosis, given that there are some overlaps between HSP and Ataxia, with the genetic test giving the opposite result to a clinical diagnosis in some cases. A joint HSP/Ataxia panel was suggested.

Sara Morais ( said that 40-60% of  families have unknown diagnoses. They checked 98 families against the most frequent HSP genes and identified the gene in 21 of these.

Lydie Burglen ( reported similar information about testing for ataxias, indicating that a gene panel would only cover about 20% of diagnoses. 

As before, I realise that it is on a very different level to my normal posts. I know I've just used a lot of terms that I dont normally use, and I've just kept this post to the points which I perceived to be most important.

My key takeaway points from this session are:
  • Gene panels - with the panels of the common genes still only covering some 20% of the tests, that leaves some 80% without a clear diagnosis. I perceive this to be important - particularly letting people know the likelihood of a match, and defining a process after this.
  • The genetic mutations for HSP (and Ataxia) can vary in size, and potentially affect more than one gene, with potentially more than one consequence. 

The question which came through my mind at this time was: how do the dominant transmission cases start - its fair enough to note that they transmit from one generation to the next, but they must start somewhere.

1 comment:

  1. My Sister in law was born with (HSP) at a young age she was confined to a wheelchair. over the years she has progressed to a frame and now she is on cruthes. i dont think she will ever walk independantly but who knows the doctors also told her she would never walk at all.

    When she was around 5 her mother started to teach how to ride a horse. Its been 10 years now nd she spends everyday with her horse. She does not let her disabilty get in the way of anyhting she wants to do and i take great inspiration from her. she has recently started to take her horse to shows and competes in competitions and she specifically chooses to compete against able body riders as she does not want to be looked at any differently to anybody else. She set up a facebook page called abled in disabled to show other that her disibilty does not mean that she is good for nothing. Im so proud of her i built a website to follow her along on her journey as she has a dream of on day competing at the horse of the year show.

    I find her determination and and reluctance to let this disease beat her so moving i feel compelled to write this blog.

    if anybody is interested in seeing what my sister in law has accomplished despite having (HSP) you can visit the site at

    thank you for reading