Thursday, 25 August 2016

Spatax Meeting - Poster Sessions Part 1

This post covers part of the poster sessions. I've chosen to give a brief summary of posters which I found interesting. I will write another post which goes into some further detail about other posters. Obviously, I'm not going to mention my own poster - thats fully covered here:

Potential HSP treatment - Simvastin
Ylikallio, Auranen, Isohanni, Lonnqvist & Tyynismaa from Helsinki reported new mutations in HSP SPG5A / CYP7B1. This gene is known to encode an enzyme involved in cholesterol metabolism, with patients accumlating 27-OH-Cholesterol. One patient was treated with Simvastin, which reduced the 27-OH-Cholesterol  with no adverse effects.

HSP/ALS Overlap
Denora et al from Inserm, Paris report an overlap with HSP SPG11 and ALS. They report neuropathological overlap and some shared clinical features. This opens up new fields of investigation.

Disease Re-classification
Goizet, Mathis, Tazir, Couratier, Magy & Vallat from France/Algeria describe proposals for re-classifying Ataxias in a more understandable fashion, by mode of inheritance, gross phenotypic and genes/mutations. They also indicate this might be feasible for HSP.

Sobanska et al from Poland report that non-motor nerve tracts are affected in the brains of some patients with HSPs SPG3 and SPG4. They report the potential for finding additional symptoms in such patients with the use of more detailed neurological diagnostic tests. They question if the types of HSP should be divided into "pure" and "complicated" any more.

Balance training
Casali et al from Italy report the investigation of the relationship between trunk and thigh movements for people with Ataxia. They report that the drop in coordination between upper and lower body impairs dynamic balance, and this this should be a target for interventions. They propose the use of elastic suits.

Cakrt et al fom Prague report the use of a Brainport balance device ( with people with ataxia with cerebellar degeneration, and describe an improvement in postural control and 2 weeks of training.

Vavla et al, from Italy report the use of neuroimaging in HSP and Ataxia identifying consistent structural and functional changes which correlate well with disease severity, with the potential for use as biomarkers. 

HSP populations 
Updates/reports on HSP populations around the world were given, with 79 patients from Greece reported as following the patterns of other European populations. 75 patients from Israel have been included in a new database. 746 patients with either Ataxia or HSP are included in a Norwegian database, and 35% of these have a molecular/genetic diagnosis.

Gene Panels
Several reports were given on the use of gene panels for HSP, 243 patients in Italy were tested with one of 2 panels of 126 or 200 genes, finding a match in 22%, and reporting some Ataxia/HSP overlaps. A group of 98 families in Portugal were screened with a panel of 70 genes, finding matches in 21%. A study looking at all 74 known HSP genes couldn't find a match in 36% of 283 HSP patients.

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