CADASIL : main clinical features and natural history by Hugues Chabriat

7/29/2019 CADASIL : main clinical features and natural history by Hugues Chabriat

1/33

LIGI\KM

AIK@LMK@KLIMJDIWT^D\I@G @IWT^IMEK\WC^[

E Leinrkit

LD^ZLC, K@\D^A T678, GET @durcZisl,

T`kvdrskt Gd`ks Gkgdrct, IXEX

Xirks, Jri`ld


2/33

98

Ipitey

Dxdlutkvd Gysju`ltkc` Gdad`tki

Ksledakl \trcod

W> VA in`craimktkds

Akfrik`d wkte iuri

>8 8 %

78%

>8-78 %

Leinrkit dt im, Mi`ldt @durcm, >88;


3/33

98

Ipitey

Dxdlutkvd Gysju`ltkc` Gdad`tki

Ksledakl \trcod

W> VA in`craimktkds

Akfrik`d wkte iuri

>8 8 %

78%

>8-78 %



4/33

Akfrik`d wkte iuri


5/33

Akfrik`d wkte iuri cllurs dirmkdr k`

wcad` tei` k` ad` k` LIGI\KM

Ziedgk dt im, Irle @durcm, >887


6/33

Akfrik`d wkte iuri k` LIGI\KM2 ifd cj c`sdt

8

98

>8


7/33

pts (%)Akfrik`d LIGI\KM pitkd`ts

Gklef i`s dt im. I` ` @durc m 9;;:


8/33

WKIs i`g strcod


9/33

Ksledakl strcod

:854% cj pitkd`ts

adi` ifd cj jkrst strcod2 7; ydirs (ri`fd jrca 9; tc 68 ydirs)

ivdrifd k`lkgd`ld2 987 pdr 988 pitkd`t-ydirs (;4% LK 4.: tc 94.>)

ivdrifd ùandr2 > tc 4 rdlurrd`t strcods cvdr sdvdrim ydirs

ksledakl dvd`ts k`virkinmy sunlcrtklim

miluìr sy`grcad k` incut >/< cj lisds (purd actcr cr sd`scry gdjklkt,

itixkl edakpirdsks, sd`scry-actcr gdjklkt, gysirterkilmuasy ei`g

sy`grcad)

k` acst lisds `c lc`vd`tkcìm vislumir rkso jiltcrs nut EW prdsd`t k`>8% cj pitkd`ts i`g ekfe lecmdstdrcm i`g sacok`f prdsd`t k` 48% cj

pitkd`ts k` scad sdrkds

Leinrkit dt im, Mi`ldt, 9;;4

Gklefi`s dt im, I`` @durcm, 9;;5Xdtdrs dt im, \trcod, >887


10/33

Aumtkpmd pu`ltkjcra

GVK pcsktkvd mdskc`s

Lisd 9 49 yc ai`, `c visl rkso jiltcr,

77 yc ai`, `c visl rkso jiltcr

dpkscgds cj k`stinkmkty i`g pirdstedskis?

suggd` rkfet skgdg gysirterki i`g

edakpirdsks

NX 988-9


11/33

Aumtkpmd wkgdsprdig

GVK pcsktkvd mdskc`s

Lisd >

7> yc wcai`, suggd` jimm i`g inumki

NX ;5/48 aa Ef

Lisd 9

75 yc wcai`, ilutd secrt tdra adacry mcss i`g

wcrg jk`gk`f gkjjklumty

NX cractd`skvd nut c gdtikm

Fcrgei` dt im, igkcmcfy Lisd, >89899


12/33

K`trildrdnrim edacrreifd k` LIGI\KM

Lisd 92 NX >>8-9>8 aa Ef

^ifcsleod dt im, B@@X, >887

Lisd >2 NX2 988/:< aa Ef, usd cj stdrckgsAilMdi` dt im, B@@X, >884

7 eypdrtd`skvd lisds

^k``cllkdt im, B @durcm \lkd`lds, >898988;


16/33

IXIWEDWKL (78%) @C@IXIWEDWKL p*` 1 47 ` 1 65

Ifd, y, adi` (\G) 45.6 (;.;) 48.4 (99.5) 8.8889

^i`fd 467

Ad`,%(`) ::.6 ( (8.4) 99 (8.7) 8.88.7) 9


17/33

Accg gksturni`lds k` LIGI\KM

- Li` nd k`iufurim- Ekfe jrdqud`ly2 ndtwdd` >8-78% k` ted mirfdst sdrkds

- Acst jrdqud`tmy sdvdrd gdprdsskc` (;/98 lisds)

- \cadtkads gyspecrki i`g ai`kl dpkscgds is cnsdrvdg k` nkpcmir

gkscrgdrs (9/98)

\trulturdg Lmk`klim K`tdrvkdw jcr G\AKZ lrktdrki ny psylekitrksts

- @ 1 >< pts (adi` ifd 4:%)- Aik` syaptcas2 k`lrdisdg actcr iltkvkty-d`drfy, smddp

gksturni`lds, krrktinkmkty


Zimd tk dt im, Ilti @durcm \li`g, >885 &>899


18/33

Lcf`ktkvd gdlmk`d


19/33

Imtdritkc` cj spddg prcldssk`f ks ted dirmkdst

lcf`ktkvd ai`kjdstitkc` cj LIGI\KM

Dxdlutkvd ju`ltkc`s p vimudK`eknktkc` drrcrs 8. ak`) 8.8:Zdrnim jmud`ly litdfcry tiso, (jrukts, > ak`) 8.Gkvkgdg ittd`tkc` (iugktcry ktda k` guim tiso) =98-7\pddg rdiltkc` tkad tiso (as)Vktecut wir`k`f 8.8>Vkte wir`k`f 8.87

>> LIGI\KM pts (adi` ifd 4< y, AA\D >4-; edimtey ifd-aitledg lc`trcms

Bcuvd`t & ^dyds dt im, ZisLcf >899


20/33

Nujjc` J dt im, B@@X, >88:

8%

>8%

78%

:8%

58%

988%

Xdrld`tifdc

j

pitkd`ts

= 48 Q48 :8Q 0 :8

Ifd

Kapikrdg lcf`ktkvd ju`ltkc`s k` LIGI\KM

Zksucspitkim inkmktkds

^disc`k`f

Zdrnim jmud`ly

Ittd`tkc`

Adacry

Dxdlutkvd ju`ltkc`s


21/33

Adacry kapikrad`t

Ifd (ydirs) 47.6(9.;) 7;.>(9.>) 8.89

Ekfe dgulitkc`mdvdm 9.;% >7.4% 8.9

AIG^\ 9.< (99) 5.> (4) 8.89

KIGM, adi`(\.D.) :.6 (8.) 8.89

AA\D >5.< (8.5.9 (8.>) 8.889 *

K@JCÂIWKC@

D@LCGK@F \WCÎFD ^DW^KDZIM

K@JCÂIWKC@

gdmiydg rdlimm

rdlimm wkte ludskaadgkitd rdlimm

@ 1 77 @ 1 ;: 88;


22/33

Ekppcliapkl adacry

kapikrad`t (5)

Ctedr typds cj adacry

kapikrad`t ( ( (8.5) 9.9 (8.>.; (8.5) >6 (8.7)

Ekppcliapkl adacry kapikrad`t ks cnsdrvdg k` c`d cut

cj jkvd LIGI\KM pitkd`ts wkte adacry gdjklkt

\ Dpdmniua dt im, @durcnkcm Ifk`f, >88;

pccr jrdd i`g gdmiydg rdlimm

igdquitd d`lcgk`f

mkttmd cr `c kaprcvdad`t ny ludk`f

K@JCÂIWKC@

D@LCGK@F \WCÎFD ^DW^KDZIM

K@JCÂIWKC@


23/33

Wed lcf`ktkvd prcjkmd gcds `ct gkjjdr ndtwdd`LIGI\KM pts wkte strcod i`g spcrigkl \ZG

@ 1 47

@ 1 97

@ 1 >8

Lmirtc` dt im, @durcmcfy, >88:


24/33

Gksinkmkty


25/33

Aik` jiltcrs cj gksinkmkty k` LIGI\KM

8 - @c syaptcas it imm

9 - @c skf`kjkli`t gksinkmkty gdspktd syaptcas? inmd tc lirry cut imm usuim gutkds i`g iltkvktkds

> - \mkfet gksinkmkty? uìnmd tc lirry cut imm prdvkcus iltkvktkds, nut inmd tc mcco ijtdr cw` ijjikrs

wktecut issksti`ld

< - Acgdritd gksinkmkty? rdqukrk`f scad edmp, nut inmd tc wimo wktecut issksti`ld

7 - Acgdritdmy sdvdrd gksinkmkty? uìnmd tc wimo wktecut issksti`ld i`g uìnmd tc ittd`g tc cw`

ncgkmy `ddgs wktecut issksti`ld

4 - \dvdrd gksinkmkty? ndgrkggd`, k`lc`tk`d`t i`g rdqukrk`f lc`sti`t ùrsk`f lird i`g ittd`tkc`

[ic dt im, Ldrdnrcvisl Gks, >89>

Jrca >>8 LIGI\KM pitkd`ts

Gdad`tki

99%

9/< 9/8-


27/33

Aik` syaptcas issclkitdg wkte gdad`tki

Gdad`tdg LIGI\KM pitkd`ts li` prdsd`t wktecut i`y

ekstcry cj strcod i`g wktecut i`y jclim syaptcas

Nd`ksty dt im, \trcod, >885


28/33

Fd`gdr djjdlt


29/33

\kf`/syaptca @c. cj sunbdlts* (%)

\pistkl tdtri-/edakpirdsks 44/:> (5;)

Trk`iry k`lc`tk`d`ld 75/:8 (58)

Lc`sti`t ursk`f lird i`g ittd`tkc` 49/:4 (65)

Gdad`tki 7;/:7 (66) Gysirterki 76/:9 (66)

Gyspeifki 79/4: (6/45 (6>)

Ndgrkggd` 79/:4 (:


30/33

Ctedr lmk`klim ai`kjdstitkc`s

\dkzurds (pirtkim cj FA) 98% jclim, fd`drimkzdg, rdjriltcry stitus dpkmdptklus

^ird cr lck`lkgd`tim ai`kjdstitkc`s

- Xirok`sc`ksa

- Zdstknumir ai`kjdstitkc`

- Edaknimmksa

- Xdrkpedrim sd`scry syaptcas wkte in`craim `drvd lc`gultkc`

- Aycpitey

- \pk im lcrg ai`kjdstitkc`s wkte issclkitdg mdskc`s

- Zksuim mcss


31/33

Lc`lmuskc`

LIGI\KM ks i sdvdrd lc`gktkc` prcfrdssk`f cvdr sdvdrimgdligds

ted acst jrdqud`t lmk`klim ai`kjdstitkc`s ird akfrik`d wkte

iuri, WKIs i`g strcod, fikt gksturni`lds, accg gkscrgdrs,

lcf`ktkvd gdlmk`d jrca dxdlutkvd gysju`ltkc` tc sdvdrdgdad`tki issclkitdg wkte ipitey, sdkzurds li` nd imsc

cnsdrvdg

sdvdrd gksinkmkty ks acrd jrdqud`t k` ad` tei` k` wcad`

ijtdr 48y i`g li` cllur it gkjjdrd`t ifd jrca 74 tc 58y,imtecufe 0 64% pts ird sdvdrdmy gksinmdg ijtdr :4y


32/33

Ilo`cwmdgfdad`ts

Lmk`klim tdia Gcak`kqud Edrv

@isskri Imkmk

Bdrcad Aiwdt

Jrdgdrkqud Nujjc`

Airkd Fdraik`d Ncussdr

Kaifk`f Bdi` Xkdrrd Fukleirg (A^K tdia)

Drkl Bcuvd`t

Jri`cks Gd Fukc

Xitkd`ts, jiakmkds +++ Issclkitkc` LIGI\KM Jri`ld

Min D Wcur`kdr Missdrvd

I Bcutdm

i`g tedkr tdia

Lmk`klim rdsdirledrs i`g XcstGcl Iì`g Zkswiìtei` (T\I)

\tdpei`d Dpdmniua (Jri`ld)

Lmikrd Fcnrc` (Jri`ld)

\irie Nd`ksty (Jri`ld)

Nd`ld Fu`gi (Eu`firy)

Reu [kLed`f (Lekì)

[ic Ak`f (Lekì)

\uppcrt Mcfkstkls Bcldmy`d ujjkd

\cmi`fd Edmmc

Aik` lcmmincritcrs Airtk` Gklefi`s

Airlc Gurk`f

@klcmi Rkdrd`

@kdms Xdtdrs

Leiek` Xileik

@durcpsylecmcfksts- I``kd Ourtz

- \c`ki ^dyds

- Iugd Bincumdy


33/33

Ilo`cwmdgfdad`ts

I^@DZI Jc`gitkc` Mdgulq

Documents

CADASIL : main clinical features and natural history by Hugues Chabriat