elisabeth tournier-lasserve - cadasil, molecular genetics and genetic counseling

7/21/2019 Elisabeth Tournier-Lasserve - CADASIL, molecular genetics and genetic counseling

1/27

BGMGRJI

Elidbuigr odkdtjbs gkm odkdtjb bluksdijkoD. ]lurkjdr-Igssdrvd

Odkdtjbs Igrjaljsjrd GS-NS Nlspjtgi Iga,T?=3 Jksdre/Sgrjs? Tkjvdrsjty Qdsdgrbn iga


2/27

Rtrl`d7::7/7::20 Kgt Odkdt 7::2

Kgturd 7::60 Igkbdt 7::?

BGMGRJI, g ilko hlurkdy tl dstgaijsn jts mdfjkjtjlk

Bijkjbgi gkm EQJ fdgturds lf gk jsbngdejb RGMA

Gutlslegi mlejkgkt jsbngdejb RGMA

Njoniy spdbjfjb DE egr`dr8 Orgkuigr Lsejlpnjijb Egtdrjgi

Ijk`god tl bnrlelsled 7:p72, fjrst elidbuigr egr`dr

Odkd jmdktjfjbgtjlk gkm eutgtjlk spdbtrue dstgaijsnedkt

Kltbn2 odkdRtdrdltypdm eutgtjlks

Sndkltypd GM OLE

BGMGRJI

ilbus

Ijk`god bnr7:


3/27

2= DOFQ GK@]E SDR]IKQ

1== 7= 22

R7 R1 R2

KL]BN2, odkd gkm prltdjk

KL]BN2 odkd / 22 Dxlks dkblmjko g 1217 gejklgbjms sjkoid pgss trgksedeargkd rdbdptlr

Furjk bidgvgod gt R7 sjtd

Igrod dxtrg bdiiuigr mlegjk jkbiumjko 1= DOF-ij`d eltjfs, dgbn blktgjkjko 6 bystdjk rdsjmuds

Edeargkd tdtndrdm jktrgbdiiuigr mlegjk

Odkd

Fuii idkotn

rdbdptlr

Ndtdrlmjedr

Hlutdi dt gi,

Kgturd, 7::6


4/27

Njoniy stdrdltypdm KL]BN2 eutgtjlks jk BGMGRJI pgtjdkts

Hlutdi dt gi,

Igkbdt 7::?

43 jkmdx pgtjdkts jkbiumdm (brjtdrjg8 jsbngdejb fgejijgi RVM + Ijk`god tl bnr 7: gkm/lr OLE

lk s`jk ajlpsy jk 27 lf tndsd fgejijds)

Rbrddkjko lf gii 22 dxlks lf KL]BN2 usjko RRBS gkm ndtdrlmupidx sbrddkjko fliilwdm ay

sdqudkbjko lf gky mdtdbtdm vgrjgkt

=4 jkmdx pgtjdkts ndtdrlzyolus flr g ejssdksd eutgtjlk idgmjko tl gk lmm kueadr lf

bystdjk rdsjmuds jk lkd lf tnd 1= DOF eltjfs dkblmdm ay dxlks 1-1=

Blsdordogtjlk wjtn tnd gffdbtdm pndkltypd jk tnd fgejijds lf tndsd =4 jkmdx

4 jkmdx pgtjdkts jkbiumjko 7 pgtjdkt wjtn OLE gkm 7 pgtjdkt frle g ijk`dm fgejiy mjm klt snlw

gky vgrjgkt usjko RRBS/NdtdrlM. Rgkodr sdqudkbjko lf gii dxlks mdtdbtdm g bystdjk eutgtjlk jk

altn pgtjdkts


5/27

Blkfjregtjlk lf tnjs njoniy stdrdltypdm kgturd lf BGMGRJI eutgtjlks

jk igrod sdrjds lf ajlpsy prlvdk BGMGRJI pgtjdkts

Sdtdrs dt gi, Grbn Kdurli 1334

]j``g dt gi, 133:

Mjbnogks orlup8 714 DE ajlpsy prlvdk BGMGRJI pgtjdkts / Eutgtjlk jmdktjfjdm jk 713 / jk gii

bgsds eutgtjlks idm tl gk lmm kueadr lf bystdjk rdsjmuds wngtdvdr tnd edbngkjse (ejssdksd,

segii jk frged mdidtjlks tg`jko g Bys rdsjmud)

@gijels orlup8 727 DE ajlpsy prlvdk BGMGRJI pgtjdkts / Eutgtjlks jmdktjfjdm jk 727 / jk gii

bgsds eutgtjlks idm tl gk lmm kueadr lf bystdjk rdsjmuds wngtdvdr tnd edbngkjse (ejssdksd,

mupijbgtjlk jkvlivjko g bys rdsjmud)

Gii Eutgtjlks jk BGMGRJI ajlpsy prlvdk pgtjdkts idgm tl gk lmm kueadr lf bystdjk

rdsjmuds wjtnjk lkd lf tnd DOF-ij`d eltjfs


6/27

Rtrlko biustdrjko lf BGMGRJI eutgtjlks jk dxlks 2-= / DOF7-4

Hlutdi dt gi 7::?8 6: % pgtjdkts ngvd g eutgtjlk dk Dxlks 2 gkm = (DOF7-4)

Sdtdrs dt gi 13348 6?,4 % jk dxlks 2-= (DOF7-4)

Fdmdrjbl dt gi 1334 rdvjdw8 61,4 % jk dxlks 2-= (DOF7-4)

Hlutdi dt gi,

Igkbdt 7::?


7/27

Jeplrtgkbd lf g mjgoklstjb tdst tl gvljm ejs-mjgoklsjs lr kl mjgoklsjs

Jeplrtgkbd flrodkdtjb bluksdijko

Kddm flr g njoniy sdksjtjvd gkm njoniy spdbjfjb mjgoklstjb tdst

7::2-13328

7::28 ijk`god gkgiysjs plssjaid lkiy jk igrod fgejijds gkm/lr s`jk ajlpsy sdgrbn flr OLE

7::68 odkd jmdktjfjbgtjlk / sdqudkbjko gvgjigaid aut blst +++ / bleajkgtjlk lf dxlks 2-=

sdqudkbjko gkm DE s`jk ajlpsy stumy

13378 bleajkgtjlk lf dxlks 2-= sdqudkbjko gkm s`jk ajlpsy jeeuklstgjkjko (Kltbn2 Ga)

1332-13728

Dxtdksjvd sdqudkbjko lf KL]BN2 DOF-ij`d eltjfs

Rbrddkjko lf KL]BN2 jk RGMA pgtjdkts

_ny gkm Nlw rdigtjvds (; :4 % lf tnde adjko bijkjbgiiy gffdbtdm) lf tnd 267

jkmdx pgtjdkts wdrd rdfdrrdm flr mjgoklstjb gkm snlwk tl ad eutgtdm

Jeplrtgkbd tl gkswdr tnd qudstjlks lf pgtjdkts gkm fgejijds gkm odkdtjb bluksdijko

Jmdktjfjbgtjlk lf g BGMGRJI typd eutgtjlk jk g RGMA pgtjdkt

Jepijbgtjlks flr tnd pgtjdkt gkm njs/ndr fgejiy


10/27

Gkswdrjko qudstjlks lf pgtjdkts gkm fgejiy edeadrs Srdsyeptlegtjb tdstjko (S])8 bgutjlk +++ sbrddkjko gk gmuit gsyeptlegtjb

edeadr flr g BGMGRJI eutgtjlk rdqujrds jeplrtgkt prdbgutjlks

Dxpdrjdkbdm euitjmjsbjpijkgry tdge (kdurlilojst / odkdtjbjst / psybnlilojst) gkm

dstgaijsndm euitj-stdp prlbdmurd jkbiumjko fliilw-up gftdr tdstjko

Igrjaljsjrd 133?-1373 dxpdrjdkbd jk prdsyeptlegtjb tdstjko8

22 gsyeptlegtjb rdigtjvds lf gk gffdbtdm edeadr bged flr S]

77 / 22 rdgbndm tnd fjkgi stdp

6 wdrd eutgtdm

Srdsyeptlegtjb sbrddkjko rgrdiy rdqudstdm / njon mrlp-lut murjko S]

prlbdmurd / jeplrtgkbd lf prlvjmjko bgrd plst tdstjko

Odkdtjb bluksdijko

Qdyds, @urtz dt gi,H Kdurli 1371


11/27

1?17 jkmdx pgtjdkts rdfdrrdm

flr KL]BN2 sbrddkjko

1332-1372 KL]BN2 sdqudkbjko dxpdrjdkbd jk Igrjaljsjrd

Ltndr rgrd vgrjgkts jk KL]BN2

?6 jkmdx pgtjdkts (1.> %)Qgrd ejssdksd eutgtjlk wnjbn ml

klt gffdbt tnd kueadr lf bystdjk

267 BGMGRJI jkmdx pgtjdkts

Lmm kueadr lm bystdjk

: jkmdx pgtjdkts (3.2 %)

Eutgtjlk idgmjko tl g stlp blmlk

Gkm jk gmmjtjlk

Grd tndsd rgrd ejssdksd vgrjgkts pliyelrpnjses lr mdidtdrjlus vgrjgkts ] 1347];B 72 ZDR

S1 G46=] 7?6>O;G 77 ZDR

S2 O426V 76>4O;] 77 ZDR

S= G=3V 7:?B] 1 ZDR

S4 Q?6=N 12?>O;G 74 ZDR

S6 I:14V 1>47B;O 7? ZDR

S? S>7Q 213O;B = ZDR

S> G734?V 21=>B;] 13 ZDR

S: I1:4Q :61];B > ZDR

S73 G72=1M =732B;G 1= ZDR

S77 _731>R 2767O;B 7: ZDR

S71 M41=K 76=>O;G 73 ZDR

S72 Q7713W 2?2?O;G 11 ZDR

S7= V463E 7?46O;G 77 ZDR

S74 Q?6?N 12?>O;G 74 ZDR

S76 Q6>3N 177?O;G 72 ZDR

S7? Q67_ 14:B;] 2 ZDR

S7> O?2Q 1:4O;B 2 ZDR

S7: O?2Q 1:4O;B 2 ZDR

Ml pgtjdkts wjtn rgrd klk bystdjk ejssdksd eutgtjlks ngvd OLE ] 1347];B 72 Kl

S1 G46=] 7?6>O;G 77Kl

S2 O426V 76>4O;] 77Kl

S= G=3V 7:?B] 1Kl

S4 Q?6=N 12?>O;G 74Kl

S6 I:14V 1>47B;O 7?Kl

S? S>7Q 213O;B =Kl

S> G734?V 21=>B;] 13Kl

S: I1:4Q :61];B >Kl

S73 G72=1M =732B;G 1=Kl

S77 _731>R 2767O;B 7:Kl

S71 M41=K 76=>O;G 73Kl

S72 Q7713W 2?2?O;G 11Kl

S7= V463E 7?46O;G 77Kl

S74 Q?6?N 12?>O;G 74Kl

S76 Q6>3N 177?O;G 72Kl

S7? Q67_ 14:B;] 2Kl

S7> O?2Q 1:4O;B 2 Zds

S7: O?2Q 1:4O;B 2 Zds


15/27

1 lut lf 7: pgtjdkts wjtn rgrd klk bystdjk eutgtjlks ngvd OLE (73 %)Altn lf tndsd ukrdigtdm jkmdx pgtjdkts ngvd g O?2Q eutgtjlk

SG]JDK] GG ET]G]JLK K] ET]G]JLK* DxlkR`jk

Ajlpsy

S7 J64>] 1347];B 72 Kl

S1 G46=] 7?6>O;G 77 Kl

S2 O426V 76>4O;] 77 Kl

S= G=3V 7:?B] 1 Kl

S4 Q?6=N 12?>O;G 74 Kl

S6 I:14V 1>47B;O 7? Kl

S? S>7Q 213O;B = Kl

S> G734?V 21=>B;] 13 Kl

S: I1:4Q :61];B > Kl

S73 G72=1M =732B;G 1= Kl

S77 _731>R 2767O;B 7: Kl

S71 M41=K 76=>O;G 73 Kl

S72 Q7713W 2?2?O;G 11 Kl

S7= V463E 7?46O;G 77 Kl

S74 Q?6?N 12?>O;G 74 Kl

S76 Q6>3N 177?O;G 72 Kl

S7? Q67_ 14:B;] 2 Kl

S7> O?2Q 1:4O;B 2 ZdsS7: O?2Q 1:4O;B 2 Zds

1 pgtjdkts wjtnlut g eutgtjlk gffdbtjko tnd kueadr lf bystdjk rdsjmuds (DOF 1-1= sdqudkbdm)

]ndsd 1 pgtjdkts ngvd typjbgi OLE gkm grd tndrdflrd trud BGMGRJI pgtjdkts

Js O?2Q bgusjko BGMGRJI gkm jf sl, wngt js tnd edbngkjse

elisabeth tournier-lasserve - cadasil, molecular genetics and genetic counseling

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