579
www.neurologiepropraxi.cz34080400107651332012142633073553814284484965465656086586857327828098518919109269661005
/33828040010732
Neurol.3459804001075593139165209227243
praxi.3718804001074672114152170186
2025;26(4):345-3493920804001074487128172185229272295337358373417462503531572616658
/46238040010732
NEUROLOGIE47018040010757101158205267310369428449493
PRO5216804001074591153
PRAXI5391804001074591147200221
34556558020012657115172
SDĚLENÍ4779200012656130188244301376409
Z5210200012659
PRAXE5291200012660123195263321
Hereditární317536001063971106139178196228264300341359
spastická355036001063065101135168186220256298
paraparéza386436001063269104146181218253285320361
typu424136001063069104145
64401360010632
(SPG6)44483600106235589129163185
s4649360010630
fenotypickou469536001062860102143173212248265299335374415
konverzí512636001063372114152184220255272
do541436001063778
ALS550836001063869103
Hereditární3409200298165292383508652716803930101911581222
spastická16119200298104246372475561628734864990
paraparéza2650920029814326935948362575084096610781206
typu3904920029888217360500
644529200298133
(SPG6)4634920029875197335497630698
s34011800298104
fenotypickou49311800298812073474855717008449091016114512791418
konverzí196011800298130264403525646737850917
do292511800298143281
ALS325411800298157277406
MUDr.3401580013793168245287311
Pavlína6731580013764121177208238303361
Malá,10561580013793152182241270
MUDr.13481580013793168245288311
Hana16811580013776135199258
Matulová,19611580013793152192256287351407465495
MUDr.24781580013793168245287311
Olga28111580013779110175233
Hübschová,30661580013776141207255304369433490548577
prof.36651580013766108172210236
MUDr.39231580013793168245288311
Robert42561580013765129195253296338
Rusina,46161580013766130178208273331361
Ph.D.,49991580013764127156235261291
MUDr.3401730013793168245287311
Pavel6731730013764121177234265
Kunc,9601730013768130194244275
Ph.D.,12571730013764127157235261291
MUDr.15701730013793168245288311
David19031730013776135191221287
Matyáš22121730013794152192252310358
Neurologická3401880013372128188223283309369431456505555583583
klinika972188001335279104164189240294
LF12891880013352105
a14171880013353
FN14931880013354124
Hradec16401880013372108160222277327
Králové1990188001336097150175235287340
Hereditární3402390012167120154206265290324375409467491
spastické8612390012141100150191226251297345396
paraparézy12872390012159109143194253303337389434486
(HSP)1803239001212996147201228
jsou2061239001212566123181
skupinou2272239001214089146205230287344402
genetických27042390012157110167220255279326374426472529
onemocnění32632390012156114167253310358415467525549
způsobujících3402530012143100155194249307362386409453476521576
degeneraci9432530012156106163214269320353401446469
centrálního1439253001214493149182214263286341364421476
motorického19422530012184139172226259282327373422478533
neuronu,25022530012156106161194248304359380
zatímco2909253001214292125148231276330
amyotrofická32662530012148131177231264296351380406451497546
laterální340267001212472104153186235258313336
skleróza699267001214086111162195249291341
(ALS)1063267001212888135186213
postihuje12992670012157113152186209264319342393
jak1714267001212573119
centrální,1856267001214594150182214263286342365385
tak2264267001213382129
periferní24162670012156108140164193244276332355
motorické27942670012184139172226259282327373422
neurony32392670012156106161194248304350
a36112670012149
má36812670012183131
rychlejší340281001213382126180204253277316338
progresi696281001215689143199231281320342
s10562810012139
horší11162810012155110142182205
prognózou.1339281001215689143199254308350404459479
V18362810012155
této1912281001213382115169
práci2098281001215789137182204
popisujeme23202810012156112168192230284308358440490
případ2828281001215789112168217273
pacienta31182810012157105150172222277309358
se3493281001213989
spastickou3600281001213995143182340295001213356101147201256
paraparézou6192950012157105138186243292324374417472527
typu1169295001213383140196
613872950012152
(SPG6),1461295001212875127192244270288
vzácnou1772295001214893142187243298353
formou2147295001212985117201256312
HSP24812950012165114167
způsobenou26702950012143100155194250307358413468524
mutací32162950012184138171220265288
v35262950012149
genu35962950012156106162216
NIPA1,3403090012163871381902325663090012121
u6053090012155
kterého681309001214782132164214270325
došlo10243090012156111150173228
k12703090012147
fenotypové1338309001212979135190223272330386433482
konverzi18383090012147100156202251284328352
do22083090012156111
ALS.23373090012161108158179
Podobná25343090012153106163218275331379
konverze29313090012146100156202251284328378
byla33273090012157103127175
vzácně3520309001214893143187242293
popsána3403230012157113170209258313361
i7193230012123
u7633230012155
jiných840323001212447102147191246
typů1104323001213383141196
HSP,13183230012165114166175
jako1511323001212573119173
jsou1702323001212463118174
SPG518943230012149101165216
a21283230012148
SPG18.21973230012149102166212258279
Tento2494323001215094149182236
případ2748323001215789113169218275
naznačuje,30413230012155103146202250294349373423443
že3502323001214292
mezi36123230012183134177201
těmito340337001213381163186218271
dvěma6283370012156104152234281
onemocněními9263370012155109159241295340394444499521603626
může15693370012182136178227
existovat1813337001215096119157191244290338369
určité2199337001215587130152185233
patofyziologické24493370012156104136189218268312335389412466522545589634682
propojení,3148337001215689142199253277326381403423
jehož3588337001212474129183224
mechanismy3403510012183134180235283338361400483529
však890351001214887136183
zůstávají1094351001214398137171220266315338362
nejasné14773510012155106130178217272322
a18203510012149
vyžadují1890351001214899144193250305328352
další22633510012156104128166190
zkoumání.2474351001214390143199282330385408429
Klíčová340368001246088114158214264316
slova:671368001244270126177228252
hereditární9393680012154103135183238260292339370424446
spastické1401368001213994141178211233276321368
paraparézy,17853680012156103134181236283314362404452467
SPG6,2268368001214999162212231
gen25153680012155104158
NIPA1,268936800121628513418522629083680012120
amyotrofická29443680012147128172225256287340368393436481529
laterální3488368001212470101149180227249303325
skleróza,340382001214086111162194249291341362
fenotypová723382001212979135190223273331387434482
konverze,12263820012147101157203252285330380400
neurodegenerativní16473820012155106161193248305356412463518569602650683706754810833
onemocnění.25023820012154110161244299345400450506529550
Hereditary3404100012469123162215276304341395433488
spastic8494100012443103157201238266312
paraplegia11814100012460113152205265293347406434488
type1689410001243791152206
619154100012456
(SPG6)1991410001243183142210267296
with3404240012476104141201
phenotypic5614240012460120173233291328383444472517
conversion10994240012445102162213265304348376435494
to1613424001243795
ALS17284240012466117172
Hereditary3404410012165116149199257280313362395446
spastic814441001214096145185219242287
paraplegias11294410012157106139187244268319376399447487
(HSP)1644441001212893142195220
are1893441001214881131
a20524410012148
group2122441001215689144199256
of2407441001215584
genetic25194410012156107163213247270315
disorders2862441001215780119175208264315348388
causing3279441001214594148188211266323
central3630441001214594150340455001213467116140
motor5104550012184140174229263
neuron8024550012156108164197253310
degeneration,11414550012157108166218274326360409442466522579600
while17704550012175132156180231
amyotrophic20304550012149134180235269302358416473497543
lateral2602455001212473106156190240264
sclerosis2895455001214086110161195250291314354
(ALS)3278455001212990138190218
affects3525455001214978112163210246287
both3404690012157113145201
central563469001214594150182214263286
and8724690012148103160
peripheral10544690012157108141165222278328361409433
motor15094690012184139172226259
neurons,17904690012156106161194248304343364
progressing2177469001215790144201233283323362385440496
more26954690012184139172222
rapidly2939469001213381138162218242289
with3251469001217397130185
a34594690012148
poorer35284690012157113169202252284
prognosis.340483001215790144201256312351374413434
In796483001212479
this898483001213388111150
study,1070483001214074128185233249
we13414830012173123
present1486483001215790140179230285318
a18264830012148
case1895483001214594133183
of2100483001215584
spastic2207483001213996144183217240285
paraplegia25144830012157106138187244268318375398446
type2982483001213383140192
631964830012151
(SPG6),3269483001212875128192244270288
a35794830012149
rare3649483001213381114163
form340497001212984117201
of564497001215584
HSP6724970012165114166
caused862497001214593148187238295
by11804970012157104
mutations13074970012183138171220253276331386425
in1756497001212378
the1858497001213388139
NIPA12020497001216387138191233
gene,22764970012156106162212232
that2532497001213388136168
progressed2724497001215790144201233283323362412470
to3217497001213387
ALS.33274970012162108159180
Similar3530497001215072155179202250282
phenotypic3405110012156111161215269301350407430474
conversions831511001214497151197245277317339393448486
have13345110012155102147196
also1547511001214770108162
been17265110012157106157211
reported1954511001213281137192224259308364
in2335511001212377
other2429511001215587141190222
HSP26685110012165113164
types,2849511001213382139189227248
such3114511001213992136190
as3321511001214886
SPG534245110012149100164214
and36555110012147102157
SPG18.3405250012149101165211257278
This6365250012149105128167
case821525001214593132182
suggests1021525001213993149205255294328368
that1407525001213388135168
there1592525001213388138171220
may18305250012183131176
be20245250012157107
a21495250012148
pathophysiological22185250012157105137192247304359404444467521545600656679724772795
link3031525001212446101148
between31965250012157108141216266316372
these3585525001213388138177228
two3405390012133109163
disorders,523539001215680119174207263313346387408
but9505390012157113146
its111653900121235697
mechanisms12335390012183133179234282337361400483522
remain1775539001213282166214237292
unclear20875390012155110155178229277309
and24165390012148104160
warrant25965390012174122154187236291324
further2939539001213085118154209259292
investigation.3251539001212379125174214247271326374407430485541562
Key3405560012462114166
words:5335560012477134173234279305
hereditary8675560012156107140190248272305354387438
spastic1334556001214097146185220243288
paraplegias,16515560012157106139188245270321378401450489511
SPG6,21905560012150103168220241
NIPA12460556001216488139192235
gene,27235560012156107163214234
amyotrophic29865560012149132179233266299354412469492537
lateral3552556001212472105155188237261
sclerosis,340570001214085108158191246285308347368
phenotypic7295700012157113163219274307357415438483
conversion,1233570001214599154201250283323346401457478
neurodegenerative17325700012155106161193248305356412463518569602650683706754803
disorders.2556570001215780119174207263314346387408
Úvod3406190014780142208279
Hereditární4806360010960108139186240262294340371423445
spastické952636001093790136173205227270314360
paraparézy1339636001095298129175228274305352393440
(HSP)1806636001092686132182206
tvoří340650001092974121149170
geneticky524650001095094143187216236276316361
a8996500010943
v9596500010943
o10196500010949
něco1085650001094993133180
menší12806500010973118167201221
míře1516650001097393124168
i16986500010921
klinicky173765000109416383131151191231276
heterogenní340664001094993123166195242292336385434454
skupinu808664001093576125175195244292
onemocnění1114664001094998142216264304352397445466
centrálního1594664001094083132160188231251300320370418
motorického3406780010975125155204234256296338383434483
neuronu.840678001095096146176225276325345
Projevují1201678001094877127148194237288309331
se1548678001093682
postupně16476780010951102137168218269320365
progredující340692001095283134186217263316367390411453475
spastickou841692001093689134171202224266309359410
paraparézou,1278692001095297128173225271301347388439490510
která1814692001094377122153198
vzniká340706001094384134155197241
degenerací597706001095196148193243289318362403424
axonů1037706001094386134184233
kortikospinální1286706001094391121153174216265300351373422466487537558
dráhy1860706001095080124340720001095091
a4507200010944
také513720001093074116161
zadních693720001093884135185206247297
provazců1009720001095181131173217257297347
míšních.1375720001097596134184205245295315
Onemocnění4807340010962113159234284326376421472493
poprvé9987340010951102154184230275
popsal12977340010952102154190234256
v15787340010943
roce1640734001093079121165
18801830734001094688135182
Adolph3407480010957109161184237289
Strümpell,656748001094676107159236290338361383403
detailněji1086748001095299131177199222273321343366
pak1479748001095298142
o16487480010951
osm1719748001095188166
let1911748001092270101
později3407620010952105144196243266288
Maurice6557620010974119170201224265311
Lorrain,993762001094394125157202224276295
proto1315762001095284134165216
je1558762001092269
také1654762001093076120165
známá18467620010939911363407760010977123
jako490776001092267112162
Strümpellův-Lorraineův679776001094676107159237290339362384436481511557608640671717739791839891937
syndrom.1643776001093682135188219271349369
Téměř2140622001094688166214244
o24116220010951
sto2483622001093769120
let2630622001092270102
později27596220010952105145198246269291
britská3077622001095384107139177222268
neuroložka3372622001095299151183234257309349394440
Anita21406360010955105126157201
Harding23586360010958102132183204254305
zavedla2680636001093883126170222244287
označení2984636001094987138181222266317338
HSP33396360010958103150
a35066360010943
rozdělila3568636001093079117169214214065000109214264107
ji2268650001092243
na2332650001095093
formu2446650001092676106182231
nekomplikovanou2698650001095096138187263314336357400448491535585635685
(též340465000109255498138
čistou)356265000109416197128177227250
a21406640010943
formu2202664001092675105180229
komplikovanou2446664001094291165216238259300349391434484533583
(Harding3045664001092582126155206226276326
et3387664001094575
al.,347766400109446583103
1983).3595664001094687133178201218
Toto2140678001094589119168
dělení2327678001095196118164214236
se2582678001093581
užívá2682678001095089110154198
dodnes.28996780010951101153203249285304
U22806920010960
forem2360692001092779110157235
nekomplikovaných2622692001095199143194272325348370414465509555607650691743
odpovídají33926920010950104157210254277330375398420
klinické214070600109426484133153193234277
potíže24327060010951100129149188232
čistě267970600109406094124168
spinálnímu2862706001093585106154197218266287360409
postižení32867060010950100134164185222267316336
a36377060010943
zůstávají36987060010938862140720001093668114158203225247
omezeny24147200010950128175216263315357
pouze27987200010952104156196243
na3067720001095196
dolní31907200010952103126177199
končetiny.3416720001094393145187233264286338380396
Pomalu2140734001094896172215237286
progreduje2447734001095282131183212257309359381426
spastická2894734001093687131167198219260302346
paraparéza,3261734001095296125169221265295340379424444
ke3726734001094286
které2140748001094173116145189
se2344748001093579
může24387480010974122159203
přidat2656748001095079100149192220
porucha2891748001095099128177217265307
mikce3213748001097494135174217
pramenící3444748001095180122196240289309348369
z21407620010939
neurogenního2199762001095197148179229281328379430452505556
močového27817620010976127169219262308359410
měchýře.32177620010977123165216258290335355
Horní35987620010959110141193214
končetiny2140776001094291141182227257278328370
postiženy25317760010951102137168189228273324365
obvykle29187760010949101144190233256301
nebývají,3241776001095095147189236280302323342
avšak3604776001094486122166208
DECLARATIONS:4070241008648871301662142563043393604124625014571241008514
Declaration406925500874987120141179207245272292334376
of445925500874166
originality:45392550087406888131151193231252272299338358
The406926600853473109
manuscript418926600855791130168195227249266306329
is452926600851644
original45842660085386178117133172205222
and481726600853472112
has49402660085387299
not50512660085387699
been516226600853975110149
published532226600854078118135151178217252292
or406927700853862
submitted414627700852867108167184208234269310
elsewhere.44712770085355381117169209246269305320
Ethical406929100873764107127160198219
principles43022910087427090132165185229249288319
compliance:463629100873172134177198218256298331369388
The406930200853678116
authors420630200853475100142183208238
attest44653020085356087124154179
that466530200852465101126
their481230200852465103121146
study49793020085295596138173
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approved531430200853477119144185220257300
by406931300854073
the41593130085236399
local42753130085165689124141
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Committee464931300854179139198215239265300337
and500231300853474114
is513331300851745
in519531300851656
compliance526731300853270130170188205239279311347
with40693240085537298140
human423732400854081143180221
studies44873240085285496139157195226
and474132400853577119
animal48893240085347695156193212
welfare512932400855391110133170196233
regulations53913240085236110414516420140693350085234080120148
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authors’44353350085347397136176200229244
institutions46993350085175684109126150189214231270310338
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well513933500855187105122
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Declaration491234600854785119136172196232257274315356
of528934600853961
Helsinki537034600854785103132150190225244
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