1. June 17, EURO-HSP GA 2017 Alghero
SCIENTIFIC REPORT GA 2017 Alghero
An Update
EUROPEAN PATIENTS SCIENTIFIC BOARD (EPSB) -1-
European HSP meetings gathering specialists & patients are the only way to commit the HSP Patients Scientific Board , in particular SPATAX meeting.
In Paris june 2016, in spite of my request to the French Organizers 1 month before, the SPATAX Symposium Head Quarters did not allow us to meet our EURO-HSP Scientific Board or a small panel of scientists working o HSP. The organizers just invite two of us representing patients to stand up in the audience. They argue that conferences timing was so stringent that they could not!
Of note Tom Wahlig was standing on the podium in an introductive part of the Symposium (his father sponsors the meeting E while the ASL-HSP France and the French CSC Association provided each 1500E)!!!
Jean Bénard
June 17, EURO-HSP GA 2017 Alghero

2. SCIENTIFIC REPORT GA 2017 Alghero An Update
EUROPEAN PATIENTS SCIENTIFIC BOARD (EPSB) -2-
Actually, constitution of common patients registries worldwide represent a mandatory step to foresee any new treatment for a HSP disease type (SPG4 for example). The EPSB will foster a real willingness of “using” this Board to enable it to be effective.
However we must stop thinking about a pure HSP EPSB! Why?
Because now the currenttrend in scientific advancements of rare disxeases is not to focus on a specific group of neurologic diseases (exampl eHSP ) but to consider a large body of specific diseases (including not rare ones) in order to pinpoint common features. In our case, Cerebellar Ataxias, Parkinson, MS,AMLS, etc...
Jean Bénard

3. That is a main aim of EURORDIS!
SCIENTIFIC REPORT GA 2017
Alghero
An Update
EUROPEAN PATIENTS SCIENTIFIC BOARD (EPSB) -3-
To be sent to EUJPND june pending the contribution of concerned patients groups (including EURO-HSP patients) to wide spread and communicate about research impact on their respective ND disease.
That is a main aim of EURORDIS!
Jean Bénard

4. Hermien Remmelink & Jean Bénard
SCIENTIFIC REPORT GA 2017 ALGHERO
SPATAX & others informations
ADVANCES IN GENETICS
New Generation Sequencing has speeded up the discovery of causal HSP genes
In 2017
Nearly 120 chromosomal loci have been found about
About 80 distinct genes are identified .
As already assessed, the most represented in families :
SPG4 & SPG3A for autosomal dominant transmission
SPG11, SPG5 & SPG7 for autosomal recessive transmission
Overcoming the divide between Ataxias and Spastic Paraplegias:
Shared Phenotypes, Genes, and Pathways
(Synofzik, & Schule,2017 Movement Disorders 6,. Willey press.)
This evidence strongly suggest a shared vulnerability of cerebellar neurons
and corticospinal neurons for common patho-physiological processes
Hermien Remmelink & Jean Bénard

5. Physiopathology mechanisms
SCIENTIFIC REPORT GA 2017 ALGHERO
SPATAX & others informations
ADVANCES IN PHYSIO-PATHOLOGY
 Extreme genes heterogeneity reflects distinct physio-pathological mechanisms at work in the cortico-spinal neuron
Physiopathology mechanisms
Klebe, Stevanin & Depienne. Rev. Neurol ,2016
Hermien Remmelink & Jean Bénard

6. ADVANCES IN PHYSIO-PATHOLOGY
SCIENTIFIC REPORT GA 2017
ALGHEIRO
ADVANCES IN PHYSIO-PATHOLOGY
Novario G. et al, Science 2014
SPG-encoded proteins, to exert their biological activity, interact between themselves or with other proteins
SPG-encoded proteins form a biological network that, if not functional, also operate in other neurological diseases: cerebellum syndrome (CS) or Amyotrophic Lateral Syndrome.
This can explain, in families, variations of clinical expression and may reflect observed “passage” from HSP to CS

7. SCIENTIFIC REPORT GA 2017 in ALGHEIRO
FROM PHYSIO-PATHOLOGY TO TREATMENT