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SCIENTIFIC REPORT GA 2015 in Madrid
An Update
SCIENTIFIC BOARD
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I have not committed the EURO-HSP Scientific Board since its creation, 2013
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Why? Between 2013-2015, no European HSP meetings gathering specialists & patients
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Towards common registries to foster a real willingness of creating an effective Board
ADVANCES IN GENETICS
 New Generation Sequencing has speeded up the discovery of causal HSP genes
 March 2015: 63 SPG genes have been identified, so far
Jean Bénard
May 31, GA 2015 Madrid
SCIENTIFIC REPORT GA 2015 in Madrid
ADVANCES IN PHYSIO-PATHOLOGY
Extreme genes heterogeneity reflects distinct physio-pathological
mechanisms at work in the cortico-spinal neurone
Physiopatology mechanisms from 34 genes
Klebe, Stevanin & Depienne. Rev. Neurol (in press)
SCIENTIFIC REPORT GA 2015 in Madrid
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
SCIENTIFIC REPORT GA 2015 in Madrid
FROM PHYSIO-PATHOLOGY TO TREATMENT
 Multiple therapeutic approaches that target the physiopathological mechanism at
work, depending on the involved defective SPG gene
 Consequently, distinct cohorts numerous of patients must be obtained to test any
therapeutic proposal