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Neurol.1374804001075593139165209227243
praxi.1633804001074672114152170186
2025;26(3):244-2481836804001074487128172185229272295338359373418458505534572612658
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V752200012667
NEUROFARMAKOTERAPII84120001267112920226634239946652961968975682988894510101082114411771210
Mohu34136001065292134175
řídit5313600106345191109141
kamion?68836001063375129147187229255
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very101936001063668104140
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Friedreichova15313600106296482114154189221239274315356393429
ataxie197636001063866103141158190
Mohu3409200298203341481618
řídit1007920029891154296361447
kamion?15039200298130256461526663802898
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very34011800298127248340469
late-onset85811800298661922774034856287678699951083
Friedreichova1989118002981272102733985426327578239301070120713291454
ataxie349111800298127213339465530655
MUDr.3401580013793168245287311
Kristýna6731580013767110140188228288353411
Janotová,11071580013745103168231272335392450479
MUDr.16091580013793168245287310
Zdeněk19411580013764129188253311372
Kunáš,23351580013767129194253300330
doc.26871580013766129179209
MUDr.29191580013793168245287310
Svatopluk32511580013760115173213277343374438498
Ostrý,37711580013779127168211271295
Ph.D.40891580013764127156235261
Neurologické3401740013372128188223283309369431456505555609
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Nemocnice14021740013372127219279329389414463516
České19421740013363117160210264
Budějovice,22291740013360120182237262322374399448502523
a.2775174001335376
s.2865174001334467
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a11511890013353
neuroonkologická12271890013361116177212272332393444503529589651676725775829
klinika2079189001335279104164189240294
1.2396189001335673
lékařská2493189001332681132186221265316369
fakulta2886189001333285136197222258311
Univerzita32201890013372132157209263298347373408462
Karlova37051890013360113149174235286339
v40671890013353
Praze4143189001335993146194248
a3402040013353
Ústřední4162040013372113150185239302362387
vojenská8272040013353111137192253295346400
nemocnice12502040013361116208268318378403452505
–17782040013355
Vojenská18572040013361117143198258301352405
fakultní2286204001333285136197222258318343
nemocnice26532040013361116207267317377402451505
Praha3181204001335893146206258
Friedreichova340255001214979102153210242292316361416471518566
ataxie932255001214981130177201251
(FA)1209255001212976133160
je1395255001212475
vzácné1496255001214893143188243293
geneticky18152550012156107162213246269314360411
vázané2252255001214896140190245295
multisystémové25732550012184139162195218257305345379428512567614663
onemocnění,32622550012155111161245300346401451507530550
které340269001214782131163212
patří5702690012156104136168191
mezi7792690012183133175198
nejčastější9952690012155105128173221259293341365403426
hereditární14382690012155105138187243266299347379434457
ataxie.1913269001214779128174198247267
První2198269001215384134190213
příznaky2428269001215789112154209256303352
se2798269001213989
objevují29042690012155111135185232287310333
obvykle32542690012155111158208255280329
v36012690012148
období366826900121551113402830012156111167190
dospívání5482830012156111149205229276324379402
a9672830012148
v10362830012148
horizontu11042830012155110142166208262317349404
deseti15252830012156106145195228251
let1793283001212473106
dochází19172830012156111156210258301324
k22582830012147
fatální2325283001212978110158181236258
invaliditě.2601283001212378124172195217273296329378397
Tato3015283001214991123176
kazuistika3209283001214695138192215254287310356405
však3631283001214887135181
pojednává3402970012157113137187244299347394442
o8082970012155
vzácné884297001214893143188243294
atypické1204297001214880130188211256303352
formě1581297001213085118201252
s18592970012139
pozdním19202970012156112154211266289372
nástupem23182970012156104143177232288339423
v27672970012148
dospělosti.28362970012156112151207258282337376410433454
Diagnostika3316297001216790138194249304344378401447496
těchto340311001213380125178210262
pozdních6193110012156110151206260282325379
forem1014311001212983115163245
je1275311001212473
obtížnější13653110012154109142164206260309331369392
především1773311001215688136192241287325348429
pro2219311001215687141
jejich237631100121247396118162215
rozdílnější2608311001213285126181203228281330353391413
fenotyp3038311001212877132185217266322
a33763110012148
pomalou34433110012156111193239262316369
progresi.340325001215688141197228277315337357
Správné7143250012148103135183228283332
stanovení1063325001213972119173227273321375397
diagnózy1477325001215678125179233287328376
FA18703250012148103
u19903250012154
pacientů20643250012156103147169218273304357
s24383250012139
chronicky2497325001214498129183237259303348397
probíhajícími2911325001215688141197220276322345368411433515537
příznaky3465325001215688110152206253298348
ataxie340339001214881130177201251
v6153390012148
dnešní6843390012157112163202257280
době9893390012156111168219
nabývá12323390012156104161207259307
nového15633390012156111158207263318
významu.1905339001214899144200248331386407
Důvodem23363390012167121170224281331415
je2775339001212475
mimo28743390012183107190245
jiné3143339001212448103153
první3321339001215789141197220
specifická3565339001214096147193216340353001212955100147196
léčba555353001212474120176225
dostupná8003530012156111151184239296352400
na12193530012156104
českém1343353001214493133179228312
trhu.1675353001213365121175196
Ta1891353001215091
dokáže20023530012156112159208251301
nejen23233530012155106130180236
zlepšit2578353001214367117174213236270
příznaky,2867353001215790113156212260306357373
ale3259353001214972122
i34013530012123
zpomalit3446353001214299155239287310333366
progresi340367001215789144200232282321344
onemocnění.7013670012155111161244299344399449504527548
Proto1266367001215385139172226
je1509367001212474
důležité16013670012156111134184227250283332
na19513670012155103
Friedreichovu2071367001214979102152209241291314359413468515570
ataxii2659367001214880129176200223
myslet28993670012183129168191241274
a31913670012148
při3260367001215689112
podezření33903670012157112169219262295344399422
indikovat340381001212379135158205259306354387
genetické7483810012156106162212246269314360409
vyšetření,1178381001214899138189222255304360383404
které1603381001214783132165215
je1839381001212475
pro1935381001215790144
stanovení2100381001214074123178233280329385408
diagnózy2529381001215780128184239294336386
klíčové.293638100121477295140193240289310
Klíčová340397001246190118163221273326
slova:687397001244472130182235261
Friedreichova970398001214979102153210242292316361416471518566
ataxie,1558398001214981130177201251271
late-onset1851398001212472104154187245300339390423
a22963980012149
very2366398001214897130180
late-onset2568398001212472104154187244300339390423
forma,3013398001212984117201249270
diagnostika,3305398001215780128184239294333367390437486507
omaveloxolon,3404120012155138187233282306361407460484539595616
genetické9774120012156106162213246269314360409
vyšetření.1407412001214899139189222255304360383404
Can3404390012459112172
I5324390012428
drive581439001245998125179230
a8324390012452
truck?905439001243676134180235278
–12034390012450
very12734390012453105144199
late-onset1492439001242781118171206267326370423461
Friedreich's1973439001245389116169230269322350396456475518
ataxia2511439001245390143197225278
Friedreich's340457001214979102152210242292315360415431469
Ataxia830457001216293142189213260
(FA)1108457001212976132160
is1286457001212362
a13664570012148
rare,1436457001213281113163183
genetically16374570012156106161212245268313362385408455
inherited2110457001212479134185217241274323380
multisystem25084570012184138162195218257305344378428511
disorder3037457001215679119174207263313346
that3401457001213388136168
ranks3587457001213381137183226
among3404710012148131186241297
the655471001213388138
most8114710012183138177211
common1040471001214598181264319375
hereditary14334710012155105138188245268301349382432
ataxias.1882471001214981130177200248287308
The22084710012150106156
initial2382471001212378101134157205228
symptoms2628471001213987171228261314398437
typically3082471001213383141164209257280303351
manifest34504710012184132187210239289328362
during3404850012156111144167222278
adolescence,6444850012148105160184234274319368423468517537
and12064850012149104160
within1392485001217397130185208264
approximately16814850012148105162195249295318401449482531555603
ten2309485001213382138
years,2472485001214797145177217238
the2736485001213388138
disease2900485001215679118169217256306
often3232485001215484120169225
leads3482485001212474122179218
to3725485001213387
fatal340499001212978110158182
disability.539499001215679118167223246269292325374391
However,9474990012165120193242289338370386
this1351499001213388110149
case1518499001214493132182
report1717499001213382139195227263
discusses1998499001215679117162217255294344384
a23994990012148
rare2468499001213280112162
atypical2648499001214880129187210254303326
form2992499001212983116199
with3209499001217397129184
late3411499001212371103152
onset35814990012154110148198232
in340513001212479
adulthood.4485130012149106161185219274330386444466
Diagnosing942513001216892140197253308348371427484
late-onset1455513001212372105155189247303343394428
forms1911513001213086119204243
is2183513001212363
particularly22755130012157107139176199245300324372405429477
challenging27815130012145101150173197248304361384440497
due33075130012157112163
to3499513001213388
their3615513001213489141164197
more3405270012185141174225
variable594527001214998132156205263287339
phenotypic9625270012157114166223279312363422446492
presentation1483527001215891142182234290324373407430486543
and20555270012149105163
slower2247527001214064120194245279
progression2555527001215791147204238288329369392448505
compared30895270012146100185243293326377435
to3553527001213489
the3671527001213490141
classic340541001214568116155194217262
form.627541001212984117201222
Accurate8745410012161105148203235284316366
diagnosis1265541001215679127183238293333355395
of1684541001215584
FA17935410012149105
in1923541001212378
patients20265410012157106138161212267300340
with2391541001217497130185
chronic26015410012145100133187243266311
ataxic2936541001214981130177201246
symptoms3207541001213987172228261315399438
has36705410012156104143
gained3405550012156104127182233290
renewed649555001213282138188261311368
importance,10365550012123106163219252288337392437486506
especially1560555001215090146197243266314337361408
in1987555001212378
light2084555001212346102157190
of2292555001215584
the2395555001213388139
first255255500121295688128162
approved27335550012148105162195249297346403
treatment3155555001213365115163196279329385417
available35915550012148951431661893405690012148105129179
on5415690012155110
the673569001213388139
Czech8335690012158103153199254
market11085690012183132164211260293
since1423569001214062118163212
2024.16565690012151102150199219
This18975690012149106129168
therapy2086569001213489139172220277323
not24315690012155111143
only25965690012155111134181
improves27995690012123106163196251298347386
symptoms3207569001213988172228262316399438
but36675690012157112145
also340583001214872111166
has5285830012155103142
the692583001213489139
potential8535830012157113146195251283306354377
to1252583001213488
slow1362583001213962118190
disease1574583001215780119170218257307
progression.1903583001215790145201234284323362385440496517
Therefore,24425830012150106157189239269324357407427
it2891583001212356
is2969583001212463
crucial3054583001214477132177200248272
to3348583001213387
consider3457583001214598154193216272323356
Friedreich's340597001214980104155213246296320366421437476
ataxia838597001214982131179203252
in1119597001212379
the1227597001213389140
differential1396597001215781111144195228278335368391440464
diagnosis1888597001215781129186242298338361401
and23175970012149105162
to2508597001213488
recommend2625597001213384130184269353404461518
genetic31725970012156107164215249272317
testing3518597001213484124158181237294
when3406110012174129180236
suspected,597611001213994133189241286322371428449
as1067611001214888
it1176611001212356
is1253611001212463
essential1337611001215090129179235267290338362
for1720611001212984117
definitive18586110012157107137163218241274297346395
diagnosis.2274611001215679127183239294333356395416
Key3406270012463116169
words:5386270012477136176238284311
Friedreich's879628001215081106158217251302327373430446486
ataxia,1388628001214983133182207257279
late-onset1696628001212474108159193253310351403438
and21636280012150107165
very23586280012149100134186
late-onset2573628001212574108159194253310351403438
form,3040628001213087121207229
diagnostics,3299628001215882131189246303344379403449491514
omaveloxolone,3406420012155138187233282306361407460484539595646665
genetic10276420012156106162212245269313
screening.1361642001214085118167218274297352409429
Úvod3406890014780142208279
Ataxie480706001095481124166187231
je725706001092266
označení805706001094985134176216259307328
pro1147706001095079127
nepravidelný1289706001094993143172214255276326370391439479
a17837060010942
neuspořádaný1843706001094993142340720001093586135164208258301350391
pohyb.7467200010951101150191242260
Může10217200010972121159203
se1240720001093580
jednat1335720001092267118167210239
o15897200010949
symptom1656720001093679154204234282356
i3407340010921
syndrom.379734001093679129180209258333352
Zároveň746734001095094123172214258308
se1069734001093681
používá11657340010951101151189210254297
pro1478734001095080129
název1622734001095093132177219
skupiny1857734001093577127340748001095071119159
dědičných514748001095094144165204252292331379
chorob908748001094088137165213264
(Paulasová1186748001092572113161182224258307348391
Schwabová1591748001094484132196238288337379421
et340762001094576
Danková,4357620010960103153196244287331350
2018).802762001094692135177201218
Diagnostika1037762001096082125176226276312342363406450
i15047620010921
diferenciální154576200109507298144174219270310331375396446468
diagnostika340776001095070112161210259293323343384427
ataxií782776001094371114156177197
je994776001092165
široká.107477600109355584132173217235
Důležitou13247760010959107128172210230259307356
roli169477600109297798118
hraje1827776001094978120141185
doba2140692001095099150193
vzniku2348692001094382132152193242
ataxie.2606692001094271114156177222240
Akutní2861692001095495145174223243
a31206920010942
subakutní3180692001093684134177219268297346367
inzulty3562692001092069108156177206250
po21407060010951102
syndromologickém2258706001093679130182211261336386408458510531572614658734
zařazení3008706001093884113157196242292313
bývají3337706001095294141184206227
rychle3581706001092975114164186231
rozpoznány.2140720001092977113163212249298340388428443
V25977200010949
případě266472000109507999149192241285
chronicky2964720001093988116164213233272313357
probíhajících3335720001095179127177198248290311331370390429478
ataxií2140734001094473118161183204
odhalení23707340010949102152196217263314335
etiologie273173400109457697147169220271293338
může30957340010975125164210
být3330734001095294127
náročné,3483734001095094124173215265311330
vyžádá2140748001094490132178230274
si2440748001093658
širokou252474800109365787138181231282
paletu2832748001095196118165196246
vyšetření,3104748001094491127174205235281332353373
a35037480010944
přesto3567748001095182128164196245
nemusí2140762001095096171221257278
být2438762001095193126
diagnóza2585762001095072115166216266304349
současnými2955762001093585135176220256306347423445
metodami34207620010975121151200252296371392
verifikována.2140776001094388118139166190232281324368418462481
DECLARATIONS:4070257008648871301662142563043393604124625014571257008514
Declaration406927000874987120141179207245272292334376
of445927000874166
originality:45392700087406888131151193231252272299338358
The406928200853473109
manuscript418928200855791130168195227249266306329
is452928200851644
original45842820085386178117133172205222
and481728200853472112
has49402820085387299
not50512820085387699
been516228200853975110149
published532228200854078118135151178217252292
or406929300853862
submitted414629300852867108167184208234269310
elsewhere.44712930085355381117169209246269305320
Ethical406930600873764107127160198219
principles43023060087427090132165185229249288319
compliance:463630600873172134177198218256298331369388
The406931700853678116
authors420631700853475100142183208238
attest44653170085356087124154179
that466531700852465101126
their481231700852465103121146
study49793170085295596138173
was517431700855389118
approved531431700853477119144185220257300
by406932800854073
the41593280085236399
local42753280085165689124141
Ethical44333280085345898115147182199
Committee464932800854179139198215239265300337
and500232800853474114
is513332800851745
in519532800851656
compliance526732800853270130170188205239279311347
with40693390085537298140
human423733900854081143180221
studies44873390085285496139157195226
and474133900853577119
animal48893390085347695156193212
welfare512933900855391110133170196233
regulations53913390085236110414516420140693500085234080120148
of423735000853859
the43163500085236399
authors’44353500085347397136176200229244
institutions46993500085175684109126150189214231270310338
as505735000853462
well513935000855187105122
as528135000853362
with53623500085526994133
the55153500085236399
World406936100856099124142184
Medical427436100855795137154188224242
Association453636100854474104144178196231256273314355
Declaration491236100854785119136172196232257274315356
of528936100853961
Helsinki537036100854785103132150190225244
on406937200853878
Ethical41663720085345898115147182199
Principles43843720085376178117150167207225261290
for46923720085216084
Medical479537200855693134151183218235
Research504937200853874102139173197229268
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