UK HSP Support Group 2022: The molecular basis of HSP

This video was recorded on Weds 24th August 2022.
Prof Andrew Crosby and Dr Emma Baple tell about the work that their team has been doing recently, partly funded by the group.
01:17 HSP as part of motor neuron disorders
02:46 The importance of finding HSP genes
05:59 Genetic testing in England
09:49 How many HSP genes are there?
11:38 The causes of motor neuron disorders
13:53 HSP links with lipid (fat) processing
16:03 HSP genes that are linked with lipid (fat) processing
18:57 Fat pathways and TMEM63C
21:32 A newly discovered HSP gene
22:30 Approaches for future studies
23:47 Characterising lipid abnomalities in HSP
25:14 Cell models and gene editing
27:19 Using cell models to compare different types of HSP
27:50 Next steps
30:13 Thank you
30:24 Details of the team

[@elizabethmckirdy1294]

First of all I want to thank you for ur hard work and great knowledge in spreading awareness of this rare condition.
My 9yr old son and I both have HSP.I only remembered today that I already knew I had it after researching the definitions of the medical language on my sons referral letters .
we had our blood tests done for the genetic testing last month but I literally just remembered going to an appointment when I was around his age with my dad about a hereditary foot condition we both had. My symptoms as a child were really mild compared to my sons. He is really high up toe walking and constantly having pains in his feet and legs. His completed 2 rounds of serial castings hoping to bring his heels to a comfortable position yet both times his feet couldn’t retain the position long term. This is the reason he was finally referred to have a neurology assessment.
My leg and feet issues have definitely worsened in recent years but I assumed I was feeling my sons pain not my own (sharp pains shooting up my heel s with every step muscle spasm’s waking me up constantly just to name a couple) we live in London and would be more than happy to help with any tests or research to help With identifying any other variants signs and symptoms and hopefully be able to helpFind solutions to help ease or improve the day to day living for other sufferers living with this condition

[@il3mendo]

I am here with spg4, bilateral Babinski, Hoffman signs; celiac disease, mthfr mutation, subclinical hypothyroidism and a previous metabolic syndrome.
Deficiency in iron metabolism, folate, vitamin D.