嬝堔弅惈懁嶕峝壔徢乮ALS乯偵偮偄偰

嬝堔弅惈懁嶕峝壔徢 (amyotrophic lateral sclerosis, ALS, Gehrig昦)

丂丂嬝堔弅惈懁嶕峝壔徢偼丄忋埵丒壓埵塣摦僯儏乕儘儞傪宯摑揑偵偍偐偡曄惈幘姵偱丄
丂戝擼旂幙塣摦椞栰Betz嵶朎丆悕懱楬丄壓晹擼姴偺塣摦惈擼恄宱妀媦傃愐悜慜妏嵶
丂朎偺挊柧側曄惈扙棊傪摿挜偲偡傞丅40乣50嵨戙偺敪徢偑懡偄偑丄10嵨戙偐傜80嵨戙
丂偵傢偨傝丄抝惈偵傗傗懡偄乮抝惈丗彈惈丂1.1乣3.0丗1)丅
丂丂戝晹暘偼屖敪椺偱丄5乣10亾偵壠懓惈敪徢偑擣傔傜傟傞丅暯嬒滊昦婜娫偑3乣5擭偲
丂梊屻偼堦斒偵晄椙偲偝傟傞丅桳昦棪偼悽奅偺奺抧堟偲傕傎傏摨堦偱丄恖岥10枩恖摉
丂偨傝0.8乣6.4/10枩恖丄擭娫敪昦棪0.4乣2.6/10枩恖偱偁傞丅
丂丂偟偐偟Guam搰偲擔杮偺婭埳敿搰丄West New Guinea偵偼丄桳昦棪偑懠抧堟偺10悢
丂攞乣100攞偲嬌傔偰崅偄懡敪抧堟偑擣傔傜傟偰偄傞丅


堚揱惈嬝堔弅惈懁嶕峝壔徢

丂丂ALS偺5乣10亾偵忢愼怓懱桪惈堚揱傪帵偡壠懓惈ALS偑偁傝丄昦棟妛揑偵2宆偵暘
丂椶偝傟傞丅
丂丂丒屒敪惈ALS偲摨條偺昦棟強尒傪偟傔偡傕偺丅
丂丂丒屻嶕宆ALS丗愐悜慜妏丄懁嶕偵壛偊丄屻嶕偺middle root zone偵曄惈傪擣傔傞丅
丂丂丂屻嶕宆壠懓惈ALS偺20亾偵墬偄偰戞21愼怓懱挿榬忋偺Cu/Zn 丂superoxide
丂丂丂dismutase (SOD 1)偵悢懡偔偺儈僗僙儞僗曄堎偑摨掕偝傟偨丅


Kugelberg-Welander昦

丂丂忢愼怓懱楎惈堚揱惈幘姵偱丄捠忢敪徢擭楊偼2乣17嵨埵丄拞擭敪徢傕偁傞丅
丂巿懷宆嬝僕僗僩儘僼傿乕椶帡偺徢忬懄偪嬤埵嬝桪埵偺嬝椡掅壓丄嬝堔弅傪帵偡偑丄
丂壓埵塣摦僯儏乕儘儞偺慖戰揑曄惈偑擣傔傜傟傞丅


Werdnig-Hoffmann昦

丂丂擕帣敪徢偺KW昦偲峫偊傜傟偰偄傞丅floppy infant丅戞5愼怓懱挿榬偺Kugelberg-
丂Welander昦偲摨堦堚揱巕偵堎側傞堚揱巕堎忢偺惗偠偨傕偺丅


懡敪抧ALS

丂丂屒敪惈ALS偲摨條偺昦棟強尒偵壛偊丄戝擼旂幙丄懁摢梩奀攏夞側偳峀斈偵恄宱尨
丂慄堐曄壔偑弌尰偡傞丅


Kennedy-Alter-Sung徢岓孮乮Bulbospinal muscular atrophy, BSMA乯

丂丂敽惈楎惈堚揱偱丄敪徢擭楊偼10乣20嵨戙丄嬝堔弅偺暘晍偼丄愩丄峔壒嬝側偳媴嬝
丂偲巐巿嬝埵嬝偑偍偐偝傟傞丅懠偵庤巜巔惃怳愴丄彈惈壔擕朳丄晄擠摍傪敽偆偙偲偑偁
丂傞丅傗傗恑峴偑抶偄偑丄曕峴晄擻偵側傞偙偲傕偁傞丅寣惔 CK偼寉搙忋徃丅
丂丂X 愼怓懱挿榬偵偁傞傾儞僪儘僕僃儞庴梕懱堚揱巕偺戞1僄僋僜儞偺堦晹偵CAG
丂(cytocine,adenine,guanine)偺孞傝曉偟攝楍偑偁傞丅
丂丂懳徠偱偼儕僺乕僩悢偼21屄偵懳偟丄敪徢幰偱偼40乣52嵨戙偵憹壛丅
丂丂彈惈曐場幰偱偼惓忢偲堎忢偺heterozygote偵側偭偰偄傞丅


ALS偺昦棟

丂丂屖敪惈ALS偺昦棟妛揑摿挜偼丄戝擼旂幙塣摦椞栰丄悕懱楬丄擼恄宱塣摦妀丄愐悜
丂慜妏恄宱嵶朎偺慖戰揑側曄惈扙棊媦傃gliosis偱偁傝丄愐悜慜妏媦傃擼姴晹愩壓恄宱
丂妀側偳偺巆懚恄宱嵶朎朎懱撪偵Bunina body丄ubiquitin梲惈晻擖懱丄歯嬧惈晻擖懱摍
丂傪擣傔傞丅摦娽恄宱丄妸幵恄宱丄奜揮恄宱妀丄愬悜Onuf妀偼堦斒揑偵忈奞偝傟側偄
丂偑丄Bunina body丄conglomerate inclusion乮neurofilament偺嵶朎撪堎忢拁愊乯丄偁傞偄
丂偼ubiquitin梲惈晻擖懱乮Lewy body-like inclusion乯偑摦娽恄宱妀傗Onuf妀偵尒傜傟偨
丂椺偑曬崘偝傟偰偄傞乮Tomonaga 1980, Kihira et al.1997乯丅椪彴宱夁偺憗偄徢椺偱丄
丂愐悜慜妏偵spheroid懄偪嬤埵幉嶕撪偵恄宱嵶慇堐乮neurofilament乯偑堎忢偵拁愊偡傞
丂曄壔偑懡敪偟丄neurofilament偼恄宱嵶朎偵傕堎忢拁愊偟丄chromatolytic change傪
丂帵偡丅ALS愐悜慜妏偱偼宍懺揑曄壔偑尒傜傟側偄堦尒惓忢偵尒偊傞嵶朎偱傕丄慻怐
丂寁應揑偵偼妀丄妀彫懱偺僒僀僘偺弅彫偑擣傔傜傟丄宱夁偲偲傕偵嵶朎懱偺堔弅偑挊
丂柧偲側傞乮Kihira et al.1998乯丅

丂丂丂丂丂恾 丗 俙俴俽姵幰偺愐悜慜妏偵偍偄偰挊偟偄恄宱嵶朎偺扙棊偲
丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂丂僌儕僆乕僔僗傪擣傔傞丅


懡敪抧ALS偺椪彴揑丒昦棟妛揑摿挜

丂丂Guam搰丆婭埳敿搰偺懡敪抧ALS偼堦斒揑偵偼壠懓撪敪徢偑懡偔丄惗懚婜娫偑懠抧
丂堟傛傝挿偔丄抯曫側偳偺惛恄徢忬傪崌暪偡傞昿搙偑崅偄丅偝傜偵摨偠抧堟丄摨偠壠宯撪
丂偵Parkinson 抯曫徢岓孮丄惛恄徢忬傪帵偡椺偑崅昿搙偵傒傜傟傞偙偲偑摿挜偱偁傞丅
丂丂偨偩偟徻弎偡傞偲婭埳敿搰屆嵗愳抧嬫偲曚尨抧嬫偱偼傗傗椪彴揑丒昦棟妛揑摿挜
丂偑堎側傞丅
丂丂昦棟妛揑偵偼丄屖敪惈ALS偲摨條忋埵丒壓埵塣摦僯儏乕儘儞忈奞傪擣傔丄偙傟偵壛
丂偊懡敪抧ALS偱偼Alzheimer 恄宱尨慇堐曄壔乮NFT)傪奀攏偺Ammon妏丄戝擼旂幙丄
丂戝擼婎掙妀丄擼姴晹偵峀斈偵擣傔傞丅梓棻嬻朎曄惈偼懡敪抧ALS偺奀攏偵偍偄偰擣
丂傔傜傟傞偑榁恖斄偑擣傔傜傟側偄偙偲偑Alzheimer昦偲偼堎側傞丅NFT偺弌尰偺掱搙偼
丂Guam ALS/PD偱傕偭偲傕懡偔丄妺尨傜偺曚尨抧嬫偺Kii ALS/PD偱傕嬌傔偰懡偄丅屆嵗
丂愳抧嬫Kii ALS偱偼偙傟傜偺椺傎偳懡偔偼側偄丅


昦場

丂丂ALS偺尨場傗敪昦儊僇僯僘儉偼側偍晄柧偱偁傞偑丆壖愢偲偟偰僼儕乕儔僕僇儖偵傛傞
丂嵶朎忈奞丄superoxide dismutase 堚揱巕堎忢丄嫽暠惈傾儈僲巁偱偁傞僌儖僞儈儞巁偵傛
丂傞嵶朎忈奞丄Ca僀僆儞偺嵶朎撪棳擖偵傛傞嵶朎巰丄neurofilament堎忢愢丄堦巁壔拏
丂慺乮NO)偺嵶朎忈奞愢側偳偑拲栚偝傟偰偄傞丅懡敪抧ALS 偱偼偙傟傜埲奜偵摿偵娐嫬
丂梫場丄拞撆丄庬摿堎惈側偳偑専摙偝傟偰偄傞丅


埲忋傪傑偲傔傞偲嬝堔弅惈懁嶕峝壔徢偲偼

丂仈慖戰揑偵塣摦僯儏乕儘儞偑恑峴惈偵忈奞偝傟傞尨場晄柧偺幘姵偱偁傝

丂仈忋埵塣摦僯儏乕儘儞乮悕懱楬乯丄壓埵塣摦僯儏乕儘儞乮愐悜慜妀嵶朎丄擼恄宱塣摦妀
丂丂 嵶朎乯偑偲傕偵怤偝傟傞丅

丂塽妛丗恖岥10枩恖摉偨傝1.9乣6.5悽奅奺抧偱傕傎傏摨條丅偨偩偟埲壓偺懡敪抧堟偑
丂丂丂丂丂偁傞丅
丂丂丂1乯儅儕傾僫孮搰僌傾儉
丂丂丂2乯婭埳敿搰撿晹丟屆嵗愳挰丄嶰廳導搉夛孲撿惃挰曚尨
丂丂丂3乯惣僯儏乕僊僯傾丄僌儖乕僩傾僀儔儞僪


楌巎

丂丂Charcot & Joffroy乮1869擭乯偑ALS偺幘姵扨埵傪妋棫丅偡側傢偪椪彴丒昦棟妛揑
丂娤揰偐傜愐悜慜妏偲懁嶕偺椉曽偑忈奞偝傟傞偙偲偵傛偭偰嬝堔弅偑敪徢偟丄宱夁偺憗
丂偄徢椺孮傪堦偮偺幘姵扨埵偲偟偰妋棫丅

丂丂Duchenne乮1860擭乯Charcot 乮1870擭乯偑恑峴惈偺墑悜塣摦恄宱妀偺忈奞偵傛傞
丂峔壒丒殝壓忈奞傪掓偡傞徢椺孮傪恑峴惈媴杻醿偲偟偰暘椶丅

丂丂Dejerine 乮1883擭乯嬝堔弅惈懁嶕峝壔徢偲恑峴惈媴杻醿偑昦棟妛揑偵偼摨堦幘姵
丂偱偁傞偲帵偟偨丅


椪彴徢忬

丂丂1乯敪徢擭楊丗40乣50嵨戙偑敿暘傪愯傔傞丅抝惈丗彈惈丂1.1乣3.0 丗 1
丂丂2乯弶敪徢忬丗忋巿墦埵晹偺嬝堔弅偲嬝椡掅壓丄壓巿偺嬝堔弅丄峔壒丒殝壓忈奞
丂丂3乯椪彴宱夁丗愐悜慜妏忈奞仺巐巿嬝傗嬰姴嬝偺堔弅偲嬝椡掅壓丄慄堐懇澒弅
丂丂丂丂丂丂丂丂丂丂 擼恄宱塣摦妀忈奞仺峔壒丒殝壓忈奞丄愩堔弅丄慄堐懇澒弅
丂丂丂丂丂丂丂丂丂丂 悕懱楬忈奞仺巐巿偺醶惈杻醿丄銯斀幩槾恑丄昦揑斀幩梲惈
丂丂4乯堿惈挜岓丗嘆姶妎忈奞偑側偄
丂丂丂丂丂丂丂丂丂丂 嘇娽媴塣摦忈奞偑側偄
丂丂丂丂丂丂丂丂丂丂 嘊銷泖捈挵忈奞偑側偄(Onufrowicz妀偑曐偨傟傞乯
丂丂丂丂丂丂丂丂丂丂 嘋羼釋偑偱偒側偄


専嵏強尒

丂丂嬝揹恾丗埨惷帪偺fibrillation potential
丂丂丂丂丂丂丂 崅怳暆偺NMU偱neurogenic pattern
丂丂丂丂丂丂丂 椪彴揑偵惓忢偵尒偊傞嬝偵傕峀斖埻偵忋婰強尒偑弌尰偡傞応崌丄媦傃
丂 丂丂 丂丂丂 擼恄宱椞堟偵擣傔傜傟傞応崌恌抐壙抣偑崅偄

丂丂嬝惗専丗揟宆揑側恄宱尨惈堔弅強尒乮戝彫偺group atrophy傗嬝懇堔弅丄
丂丂丂丂丂丂丂 昗揑慄堐target fiber偺弌尰丄fiber type grouping)

丂丂悜丂 塼丗抈敀偑寉搙忋徃偡傞偙偲傕(100mg/dl埲壓偵偲偳傑傞)

丂丂寣惔CK丗捠忢偼惓忢丄婬偵寉搙忋徃


娪暿恌抐

丂丂1乯宍惈寊捙徢丄寊捙屻廲恱懷峝壔徢(OPLL)丗
丂丂丂丂丂丂ALS偲偺崌暪椺偵拲堄丄庤弍偱ALS徢忬偺憹埆椺偑懡偄丅
丂丂2乯寊悜晹庮釃丗
丂丂丂丂丂丂捠忢偼忋巿偺嬝堔弅偲杻醿丄壓巿偺醶惈懳杻醿傪惗偠傞丅偟偐偟捠忢偼
丂丂丂丂丂丂姶妎忈奞傪敽偄銷泖捈挵忈奞傕崅棪偵崌暪丅MRI丅
丂丂3乯栩榏丗曅懁側偄偟椉懁偺彫庤嬝堔弅偲帺敪捝丄姶妎撦杻偁傝丅
丂丂4乯摢奧丒寊捙堏峴晹偺堎忢丄戝屻摢岴偺庮釃丄Arnold-Chiari婏宍
丂丂5乯愐悜嬻摯徢
丂丂6乯庒擭惈堦懁忋巿嬝堔弅徢乮暯嶳宆乯丗
丂丂丂丂丂丂彫庤嬝丄慜榬偺枛徑晹偲嬤埵懁偺広懁晹偵尷嬊偟偨嬝堔弅
丂丂丂丂丂丂(segmental)偱慄堐懇澒弅傪敽偆偑旕恑峴惈丄10乣20戙偺抝惈偵懡偔丄庱偺
丂丂丂丂丂丂寖偟偄塣摦丄奜彎楌偺偁傞偙偲偑懡偄丅寊捙偺孅嬋埵偵偍偗傞寊悜埑敆偵傛
丂丂丂丂丂丂傞flexion myelopathy偱丄恌抐偼寊晹MRI偱丄摿偵neutral丄flexion埵側偳傪挷
丂丂丂丂丂丂傋傞昁梫偑偁傞丅
丂丂7乯擼寣娗忈奞偵傛傞壖惈媴杻醿丗
丂丂丂丂丂丂嶶嵼惈偺懡敪擼峓嵡偵傛傞傕偺丅峔壒丒殝壓忈奞挊柧丅愩堔弅偑側偄丅
丂丂8乯懡敪僯儏乕儘僷僠乕丗
丂丂丂丂丂丂捠忢偼姶妎忈奞傪敽偭偰偄傞丅枛徑恄宱巋寖揱摫懍搙掅壓丄恄宱惗専強尒丄
丂丂丂丂丂丂悜塼強尒丄婎慴幘姵側偳偑娪暿偺嶲峫偵側傞丅

丂丂丂丂Multifocal demyelinating motor neuropathy (multifocal motor neuropathy
丂丂丂丂with conduction block)丗椪彴憸偼ALS偵椶帡丅柶塽僌儘僽儕儞戝検椕朄側偳
丂丂丂丂丂丂帯椕偵斀墳偡傞丅

丂 丂丂丂Chronic inflammatory demyelinating polyneuropathy, CIDP丗
丂丂丂丂丂丂捠忢偼姶妎塣摦宆丅枛徑恄宱巋寖揱摫懍搙偺掅壓丄恄宱惗専偱枛徑恄宱
丂丂丂丂丂丂偺扙悜惈昦曄丅

丂丂丂 丂Charcot-Marie-Tooth昦丗忢愼怓懱桪惈堚揱丅戝戁晹壓3暘偺1埲壓偺媡僔儍儞
丂丂丂丂丂丂儁儞價儞宆嬝堔弅丅姶妎忈奞傪敽偆丅恄宱揱摫懍搙偺掅壓偡傞傕偺乮1宆乯偲掅
丂丂丂丂丂丂壓偟側偄傕偺乮2宆乯偑偁傝丄1宆偑懡偄丅

丂丂9乯懡敪嬝墛丗巐巿嬤埵嬝桪埵偺嬝堔弅偲嬝椡掅壓丅怺晹斀幩掅壓丅
丂丂丂丂丂丂丂丂丂丂寣惔CK抣忋徃丅墛徢斀墳丅
丂10乯廳徢嬝柍椡徢丗崅搙偺媴杻醿偑弌尰偡傞偺偱杮徢偺媴杻醿偲帡傞偑丄娽豳壓悅
丂丂丂丂丂丂丂丂丂丂丂丂丂 偲娽媴塣摦忈奞偑崅昿搙偵弌尰偟徢忬偺擔撪曄摦偑偁傞丄僥儞
丂丂丂丂丂丂丂丂丂丂丂丂丂 僔儘儞僥僗僩梲惈側偳偐傜娪暿丅


嬝堔弅惈懁嶕峝壔徢偺崌暪徢

丂丂媴杻醿丒壖惈媴杻醿偵傛傞殝壓忈奞偺偨傔丄岆殝惈攛墛傪惗偠傗偡偄丅嬝椡掅壓傗
丂屇媧嬝杻醿偺偨傔偵歕醾攔弌偑崲擄偱婥摴姶愼徢傗拏懅偑崅昿搙丅堦斒偵枬惈恄
丂宱幘姵偵懡偄羼釋偲擜楬姶愼徢偼旕忢偵彮側偄乮堿惈挜岓乯丅


嬝堔弅惈懁嶕峝壔徢偺宱夁偲梊屻

丂丂忢偵恑峴惈偱偁傞偑丄宱夁偼徢椺枅偵堎側傝丄敪徢偐傜巰朣傑偱偺婜娫偼丄悢儠寧
丂偐傜10擭傪墇偊傞傕偺傑偱偁傞丅


帯椕

丂丂1乯嫽暠惈傾儈僲巁壖愢偵婎偯偔儕儖僝乕儖宱岥搳梌
丂丂2乯屇媧忈奞偵懳偡傞帯椕乮旲儅僗僋丄婥娗愗奐丄恖岺屇媧婍乯
丂丂3乯殝壓忈奞偵懳偡傞帯椕乮宱旲塰梴丄PEG乯
丂丂4乯堄巙偺慳捠偵娭偡傞椕朄乮暥帤斦丄僐儞僺儏乕僞側偳乯
丂丂5乯揔搙側塣摦偵傛傞嬝椡曐帩偲娭愡峉弅偺梊杊
丂丂6乯偦偺懠丄姵幰偍傛傃壠懓傊偺昦柤崘抦偺栤戣丄嵼戭丒巤愝椕梴巟墖


暥專

丂丂1乯朙憅峃晇曇廤丗恄宱撪壢妛彂丆1996丆挬憅彂揦
丂丂2乯悈栰旤朚曇廤丗恄宱撪壢僴儞僪僽僢僋娪暿恌抐偲帯椕戞俀斉丆1999丆
丂丂丂丂丂丂丂丂丂丂丂丂丂 堛妛彂堾