• Present at the meeting:

• Introduction

• Get to know each other
• Organisation and sharing of the research
• To know what we have and what we are going to do

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  Approval of the network chart (copy attached) Please sign the form if you agree and return to the coordinator!

• What do we have

(Team A, N, H, T, J, D, C, Mc Dermott, C. Verny, G, Q, F)

• Discussed strategies

A) Spastic paraplegias :

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  Spastin mutations: by SSCP (Team S and in special cases McDermott otherwise charged 600 ¤), direct sequencing (Team B and Team T), future DHPLC (Team A) this is not sufficient for the screening of 328 families with dominant SP!! Since no one is willing to do linkage or SPG4 screening for the network, this job could therefore be shared by the participant??

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  Paraplegin mutations: Team B and Team S less urgent than spastin screening in dominant families since frequency of paraplegin mutations among recessive families appears to be less than 5%.
• PLP mutations:: X-linked HSP with early onset, slow progression and white matter involvement on MRI suspect of PLP mutations can be sent (Team B)
• Atlastin (SPG3): identified by Fink et al (7 exons), Team S interested to screen. Jamile Hazan will screen the 3 families in Genethon linked to the locus for mutations.
• Linkage studies in informative families: Team A : Linkage studies started at CNG (Centre National de Genotypage) with 24 families; Team S SPG17 selected by phenotype ( Silver-like) ; Team N linkage to SPG 10 and 11, Team B (Santorelli) SPG11 .
• The neuro-pathology of HSP remains largely unknown, more autopsies are needed with the use of modern neuropathology techniques (Team E). Team K and C. Mc Dermott are using spastin antibody…

• Phenotype characterisation: Team B (Bertini) would like to concentrate on HHH syndrome, and congenital spastic paraplegia forms. Team D is still collecting interesting families.

B) Cerebellar ataxias:

• SCA1,2,3,6,7, 10,17, DRPLA are done by Team A, D, F, S, and T.

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  Aprataxin (AOA1) on 9p13 is screened by Team I only for exon 5 and 6 that is not enough…
• ARSACS: Team F but not quite yet

• SCA8 (Team D), SCA11 (Team S), SCA13 (Team A).
• Recessive families undergoing linkage analyses (Team A, D, T). The AOA 2 /ATL (ataxia with increased alpha fetoprotein) on 9q34 linkage (Team I).

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  Studies on modifying genes: Sib-pairs in identified SCA2 and 3: interested in collaboration: Team A, D,F, S. Team P excluded SOD in AF-like phenotype what else can be done in AF-like families (mitochondrial screening)?
• Team B (Santorelli) interested in Coenzyme Q10 deficiency.

• Brain Bank

• A brain bank project is proposed, together with a network of pathologists who would work together. SPATAX could help for the collection of samples, the correct diagnoses and the distribution of the samples to the relevant teams.

• Tools

The clinical form is discussed and a modified form is attached. We are still missing the dysarthria scale (Team S)…Please give us your comments.

• Central database and web site.

"Progeny" a new program has appealed to everyone! Team A will set up the program for our needs : detailed clinical database, genealogical information, communication within the network. The web-site and the interface (secured) is being prepared.

• What do you do now :