Ci-dessous le message du dr Dürr annonçant la première réunion du réseau.
Il est suivi du tableau de collecte d'informations pour le premier groupe de travail.
Dear colleaques,
unfortunately the date for the first meeting on JUNE 23 was not convenient for all of you, so we would like to propose
Friday 28 at 14 pm until Saturday 29 SEPTEMBER et 17 pm 2001 in Paris.
We propose several topics for the time schedule:
1) Data collected from each center presented by the participants (please find enclosed the table)
2) Discussion of standardized evaluation tools for cerebellar syndrome and spastic paraparesis
3) Projects and their organisation: as of today we have the followings
Loci for autosomal recessive ataxias
Spastin mouse model
Role of mitochondria
X-linked forms in adults....
Please give us your suggestions
4) Central data base
5) Therapeutical protocols
6) Calendar and follow up of the SPATAX network
It is important to know who will be coming to the meeting, which will determine our strategies for further analyses of the families.
With best regards and looking forward to seeing you in September
Alexandra Durr and Chantal Tallaksen
--------------------------------------------------------------------------------
***************************
Alexandra Durr, MD, PhD
INSERM U289 et Département de Génétique, Cytogénétique et Embryologie
Hôpital de la Salpêtrière
47, boulevard de l'Hôpital
75651 Paris Cedex 13
Tel: 0033 1 42 16 21 82 ou 24 32
Fax: 0033 1 44 24 36 58
***************************
--------------------------------------------------------------------------------
Table SPATAX
Pathologies Transmission type Number of families (patients) collected
Unknown FSP
Recessive
Dominant
X-linked
Isolated cases with consanguinity
Unknown cerebellar ataxias
Recessive
Dominant
X-linked
Isolated cases with consanguinity
Known FSP
SPG1
SPG2
SPG4
SPG7
Others
Known Cerebellar ataxias
FA
ARSACS
VITE
SCA1
SCA2
SCA3
SCA6
SCA7
SCA10
SCA12
SCA15 (TBP)
others