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SENP 2013

Leucodystrophies hypomyélinisantes liées aux mutations récessives de GJC2 (CONNEXINE 47) : particularités clinico -radiologiques à propos d’une série de 18 cas.

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SENP 2013

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  1. Leucodystrophies hypomyélinisantesliées aux mutations récessives de GJC2 (CONNEXINE 47) :particularitésclinico-radiologiques à propos d’une série de 18 cas F Renaldo, D Tonduti, I Dorboz, J Masliah-Planchon, G Giraud, M Elmaleh, S Orivoli, C Beraud-Majorel, S Drunat, F Chalard, M-A Barthez, I Desguerre, S Quijano-Roy, D Rodriguez, O Boespflug-Tanguy SENP 2013

  2. Leucodystrophieshypomyélinisantes PMD ouHDL1 (Maladie de Pelizaeus-Merzbacher ) = liéeà L’X, mutations PLP1. PMDL= pas de mutations PLP1 identifiée HDL2 =mutations AR GJC2(GJA12) codant pour la connexine 47= 8% (Henneke 2010)

  3. -Couplageoligo/oligo: Cx47/Cx47 et Cx32/Cx32 -Couplage astrocytes/astrocytes: Cx43/Cx43 et Cx30/Cx30 -Couplageastro/oligo: Cx43/Cx47 (Bruzzone 1996) Cx43 Cx47

  4. Régiond’intérêt en 1q41-42 GJC2 bon candidat => 3fam./6fam. PMDL: mutrécessivesGJC2 SPG44

  5. 18 patients : mutations homozygotes ouhétéroz composites AR GJC2

  6. Profilévolutif (6-17a)

  7. 5 SPG SPG PMDL PMDL SPG PMDL FAMILLE A.

  8. EVALUATION RADIOLOGIQUE: • 13/18 patients (6M/7F) • T1, T2 13/13 • Flair 11/13 • 1ere evaluation dansl’enfance : 10/13 (2-12m); 7/13 >1 IRM • 3/13 patients : 1 evaluationàl’âgeadulte

  9. T2 flair T1 Patients mutés 7a Patient sain

  10. 13/13 TC 9/13 PC T1 T2 G 18: 16a T2 G 4: 9m

  11. G PLP: 15a T1 T2 G 16: 16a

  12. 3/13 G 4: 9m T1 T2

  13. 4/13 T1 T2 F11: 2a et 7a

  14. T1 T2 flair F11: 7a

  15. G=7mH=17m

  16. Conclusion: recherche mutations de GJC2 de première intention Patients PMDL filles Patients PMDL, famillesconsanguines Patients PMDL garçonsayantcertainescaractéritiquesclinico-radiologiques

  17. Centre de référence Maladies Rares LEUKO FRANCE « leucodystrophies » MERCI A TOUS MERCI AUX FAMILLES

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