Documents.mx Ataxia 558495943784e

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APPROACH TO ATAXIA

Dr. Deep Chandh Raja.S



SYNOPSIS

Important concepts in AtaxiaATAXIA MIMIC!RS

Tests o" Cere#e$$ar d%s"&nction

Step'(ise approach to Cere#e$$arAtaxias

S&mmar%

A)*ORITHM "or cere#e$$ar ataxias



+In Simp$e Terms,-

• ATAXIA' A#sence o" ORD!R- /Greek Word0

•

In Ne&ro$o1ica$ Terms'Incoordination o" mo2ement-

•

A major "eat&re o" a disease or j&st one o"the 2ario&s c$inica$ "eat&res o" a disease



De3nition• Ataxia is the ina#i$it% to ma4e smooth5

acc&rate and coordinated mo2ements

• Arises "rom disorders o"6

77Cere#e$$&m77Sensor% path(a%s /Sensor% Ataxia077Posterior co$&mns5 dorsa$ root 1an1$ia5

periphera$ ner2es

778ronta$ $o#e $esions77!xtra p%ramida$ s%stem

779esti#&$ar s%stem



Tests to di:erentiate 9ario&ss%stems in Ataxia' The Ataxia

Mimic4ers-



Cere#e$$arAtaxia

Cortica$ Ataxia

M%opath%

)a#r%nthineAtaxia

Sensor% Ataxia

/Posterior Co$&mn0 Tha$amic Ataxia

Sensor% Ataxia/Periphera$

Ne&ropah%00



S!NSORY ATAXIA

Dist&r#ances in the sensor% inp&t to thecere#e$$&m-

• Tests o" proprioception' ;oint sense5 passi2

mo2ementThe correcti2e e:ects o" the 9is&a$ s%stem

•C$assica$ Sensor% Ataxic *ait

•Rom#er1<s si1n

•)oss o" tendon re=exes

•

8eat&res o" Periphera$ ne&ropath%





• Caveats

8riederic4<s ataxia5 M&$tip$e sc$erosis,• O2er$ap o" c$inica$ "eat&res to #e

expected in c$inica$ practice



M&sc$e (ea4ness

• In the Mi$$er'8isher s%ndrome5 (hich isconsidered to #e a 2ariant o" ac&te *&i$$ain'>arr? po$%ne&ropath%

•

The se2ere ataxia and intention tremor arepres&ma#$% a res&$t o" a hi1h$% se$ecti2eperiphera$ disorder o" spinocere#e$$ar ner2e3#ers

•

Simp$e tests o" m&sc$e po(er- can he$pdetect m&sc$e (ea4ness in 2ario&s m&sc$e1ro&ps

• CAVEAT- $ead poisonin1



)a#r%nthine Disorders

• Inp&t to cere#e$$&m

• Di@@iness5 $i1ht headedness5 perception

o" mo2ement-5 rotator% n%sta1m&s• In"ections5 neop$asms5 2asc&$ar ca&ses

CAVEAT: in2o$2ement o" =occ&$onod&$ar$o#e o" cere#e$$&m5 paraneop$astic and

$atera$ med&$$ar% s%ndromes /$atera$med&$$a and in"erior $o#e o" cere#e$$&m0



Cortica$ Ataxias

8RONTA) )O>! ATAXIA re"ers to dist&r#ed coordinationd&e to d%s"&nction o" the contra$atera$ "ronta$ $o#e

'Res&$ts "rom disease in2o$2in1 the"rontopontocere#e$$ar 3#ers en ro&te to s%napse in thepontine n&c$ei.

• h%perre=exia5 increased tone and Re$ease re=exes

A $esion o" the SBP!RIOR PARI!TA) )O>B)!- /areas and o" >rodmann0 ma% rarely res&$t in ataxia o" thecontra$atera$ $im#s



Tha$amicAtaxias

' transient ataxia a:ectin1 contra$atera$

$im#s a"ter $esion o" anterior tha$am&s

' ma% see associated motor /p%ramida$tract0 si1ns "rom in2o$2ement o" interna$caps&$e

' a$so can res&$t in asterixis in

contra$atera$ $im#s /hemiasterixis0



>!FAR! O8 !XTR!M!)Y ANXIOBSPATI!NTSGGG



C!R!>!))AR

ATAXIAS

ATAXIA IS TH! MOST IMPORTANT

8!ATBR! AMIDST OTH!R C)INICA)SI*NS O8 C!R!>!))AR DYS8BNCTION-



N!O C!R!>!))BM

8)OCCB)ONODB)AR )O>!

SPINOC!R!>!))BM









T!STS O8 C!R!>!))ARDYS8BNCTION



ATAXIA

errors in the RATE, RANGE, FORCE !"RECT"ON o# movement$

•*AIT ATAXIA

• TRBNCA) ATAXIA

•)IM> ATAXIA



C)ASSIC 8!ATBR!S AND T!STS

Dyssynergia6 res&$ts in jer4% de%om&osedmo2ements 'heel-knee-shin test(

Dysmetria6 d&e to de$a%ed acti2ation o"anta1onists

•' o"ten correction to tar1et #% series o" jer4% corrections /)n*er nose test(

•' ma% $ead to intention tremor in $im#s(ith 3n1er'to'nose or "oot'to'tar1et testin1as rh%thmic osci$$ation emer1es c$ose totar1et

Dysdiadochokinesis6 irre1&$arities o"

"orce5 speed5 and rh%thm



Other "eat&resHypotonia6 decrease in resistance to passi2e

mo2ement o" m&sc$es re$ated to de&ression o# *ammamotor ne+ron a%tivity /&s&a$$% seen transient$% inac&te phase o" cere#e$$ar $esions05 pend&$$ar 4nee jer4

Rebound phenomenon6 re$ated to poor tone and

(ea4 chec4 response5 so (hen tap or disp$ace $im#5(ider ran1e o" mo2ement in ret&rn to static position5inc$. olmes &henomenon (hen s&dden$% re$ease=exed arm he$d a1ainst resistance ' &na#$e to stop=exion and arm stri4e se$" 'delay in a%tivation o#

anta*onist tri%e&s m+s%le(Dysarthria6 o"ten s%annin* t%pe (ith irre1&$arities intone5 (ith (ords #ro4en into s%$$a#$es o"ten s$o( (ithoccasiona$ rapid portions /exp$osi2e speech0



Other "eat&resOcular Motor Abnormalities6' &s&a$$% i" 2esti#&$ar connections or =occ&$onod&$ar$o#e a:ected' p&rs&it mo2ements no lon*er smooth5 #&t saccadic' ma% o2er' or &nder'shoot tar1et (ith attempts at3xation /oc&$ar d%smetria0' in primar% position ma% see saccadic intr&sions /s&chas ma%ro s+are-.ave /erks0 or primar% n%sta1m&s/inc$. 2ertica$5 esp &p'#eat n%sta1m&s0 or periodica$ternatin1 n%sta1m&s're#o&nd n%sta1m&s can occ&r (ith contra$atera$'

#eatin1 n%sta1m&s on ret&rn o" e%es to primar%position a"ter eccentric 1a@e e2o4ed n%sta1m&s to onesideWriting abnormalitiesPositional projectile vomiting /posterior "ossa

$esions0

APPROACH TO C!R!>!))AR



APPROACH TO C!R!>!))ARATAXIA

IN ADB)TS



TH! 8OBR- B!STIONSJJJJ

• Mode o" ONS!T J

• PRO*R!SSION J

• 8oca$ KS%mmetric in2o$2ement J

• )oca$isation o" the cere#e$$ar $esion J

HISTORY

!XAMINATION



MOD! O8 ONS!T

• ACBT!' ho&rs to da%s

•

SB> ACBT!' da%s to (ee4s

• CHRONIC' months to %ears



ACBT! ONS!T ATAXIA

• "NTO0"CAT"ON: a$coho$ 5 $ithi&m 5phen%toin 5 #ar#it&rates

• 1O2T "NFECT"O32: Ac&te 9ira$Cere#e$$itis5 9L9

• VA2C34AR: In"arction /AICA5 PICAs%ndromes05 Haemorrha1e5 S&#d&ra$hematoma



SB> ACBT! ATAXIA

• "NTO0"CAT"ON: Merc&r%5 So$2ents5 *$&e

• N3TR"T"ONA4: > and > de3cienc%

• "NFECT"ON: HI9

• !E56E4"NAT"NG: M&$tip$e Sc$erosis

• NEO14A2T"C: *$ioma5 Metastases



CHRONIC ATAXIA

• A3TO"553NE CA32E2 : Paraneop$astics%ndromes5 *$&ten h%persensiti2it%5 Anti *ADa#s.

• 61OT6RO"!"25

• "NFECT"ON2: S%phi$is /Ta#es Dorasa$is0

• CONGEN"TA4 4E2"ON2: Arno$d'Chiari and Dand%Fa$4er S%ndromes

• "NER"TE! ATA0"A2:

AD5AR5XR5XD5Mitochondria$



PRO*R!SSION

• Pro1ressi2e

•

Static

• Intermittent s%mptoms

• Re2ersi#$e Ataxias



PRO*R!SSI9! ATAXIA

C)ASSI8ICATIONS O8 *R!!N8I!)D AND O8HARDIN*

into three main 1ro&ps6

/0 the spinocere#e$$ar ataxias5 (ith &nmista4a#$e

in2o$2ement o" the spina$ cord /Rom#er1 si1n5sensor% $oss5 diminished tendon re=exes5 >a#ins4isi1ns0

/0 the p&re cere#e$$ar ataxias5 (ith no otherassociated ne&ro$o1ic disorders and

/0 the comp$icated cere#e$$ar ataxias5 (ith a2ariet% o" p%ramida$5 extrap%ramida$5 retina$5 opticner2e5 oc&$omotor5 a&ditor%5 periphera$ ner2e5 andcere#rocortica$ accompaniments inc$&din1 (hat is

no( re"erred to as m&$tip$e s%stem atroph%



STATIC ATAXIAS•

9asc&$ar ca&sesR!9!RSI>)! ATAXIAS

• In"ectio&s ca&ses 7 post 2ira$

• Th%roid• Dr&1s

• Toxins INT!RMITT!NT

SYMPTOMS• !pisodic Ataxias /Inherited etio$o1%0



8OCA) K SYMM!TRICATAXIAS

• Cere#e$$ar s%mptoms on same side o"$esion5 or

• >i$atera$ s%mptoms

FOCA4 ATA0"A29asc&$ar ca&ses5 M&$tip$e Sc$erosis5

Cere#e$$ar a#scess5 cere#e$$ar 1$ioma5PM) /HI905 Con1enita$ ca&ses

2655ETR"C ATA0"A2

Intoxication5 N&tritiona$5 Post inhectio&s5H%poth%roid5 A&toimm&ne ca&ses



)OCATION O8 )!SION•

C!R!>!))AR H!MISPH!RIC SYNDROM! Ipsi$atera$ head >od% cere#e$$ar si1ns In"arct5 Neop$asm5 A#scess5 Dem%e$ination

• ROSTRA) 9!RMIS SYNDROM!1ait and Tr&n4 Ataxia A$coho$ism5 > de3cienc%

• CABDA) 9!RMIS SYNDROM! DiseQ&i$i#ri&m5 Tr&n4ataxiaMed&$$o#a$stomas

• PANC!R!>!))AR SYNDROM! >i$atera$

si1ns Toxins5 meta#o$ic5 In"ections5A&toimm&ne5 Inherited

• C!R!>!))AR P!DBNC)!S Dramaticcere#e$$ar s%mptoms





/)atera$ med&$$ar%'Fa$$en#er1

S%ndrome0

AICA



AICA/)atera$ In"erior Pontine

S%ndrome0• 9esti#&$ar N. iK$ 2erti1o5 n%sta1m&s

• Cochear n. iK$ dea"ness

•

th

Crania$ Ner2e

iK$ "acia$ pa$s%• Cere#e$$&m iK$ Ataxia

• th crania$ ner2e iK$ hemisensor%

$oss o" "ace• Spinotha$amic Tract CK)

hemisensor% $oss



TH! N!XT ST!P ,RB)! OBT

ACBIR!DATAXIAS

INH!RIT!DATAXIAS

SPORADIC orIDIOPATHIC

ATAXIAS



ACBIR!D ATAXIAS

• 8irst r&$e o&t the Str&ct&ra$ ca&ses/MRI >rainK CT head0

'C9; anoma$ies

'Posterior "ossa t&mors

'Dem%e$inatin1 diseases

'H%poxic encepha$opathies'9asc&$ar ca&ses' in"arct5 haemorrha1e



AcQ&ired Ca&ses

• HYPOTHYROIDISM' Mi$d 1ait ataxiaP)BS S%stems o" h%poth%roidism



A)COHO)ISM

• 9ermian Atroph%



TOXINS

• Cancer chemotherape&tics 8B5C%tara#ine

• Meta$s >ism&th5 Merc&r% /parasthesiass5

restricted 2is&a$ de"ects05 )ead• So$2entsPaint thinners 5 to$&ene

/Co1niti2e de"ects P)BS p%ramida$ tractsi1ns0

• Anticon2&$santsPhen%toin /p&r4inje ce$$$oss0a2oid in epi$eptics (ith ataxia



IN8!CTIONS

• 9L9 in chi$dren

• !>9 in chi$dren

• >ic4ersta:<s encepha$itis /#rain

stemophtha$mop$e1ia5ataxia5$o(er c.npa$sies0

• HI9 / )%mphomas5 PM)5 In"ections5 Toxop$asmosis0

• C;D / c$assic C;D5 Ataxic 2ariant o"C;D0

• S%phi$is /Ta#es Dorsa$is0

•

Fhipp$e<s disease



ABTOIMMBN! CABS!S

PARAN!OP)ASTIC SYNDROM!S

•ANTI H& a#s. Sma$$ Ce$$ Cancer )&n1/extrap%ramida$ si1ns0

•ANTI Yo a#s. O2arian cancer

•ANTI Ri a#s. >reast cancer /opsoc$on&s7saccadomania5 Tr&n4 ataxia0

•ANTI Tr a#s. Hod14in<s $%mphoma/hearin1 $oss0



• *)BT!N S!NSITI9ITY ' Anti *$iadina#s.

/ataxia5 #ris4 re=exes5 periphera$

ne&ropathies0

• ANTI *AD a#s. 7 Dia#etes5

h%poth%roidism5 periphera$ne&ropath%STI88 P!RSON s%ndrome

ABTOIMMBN! CABS!S



NBTRITIONA) CABS!S

• 8AT MA)A>SORPTION' 9it. !de3cienc%

• 9it. > 5 > de3ciencies



INH!RIT!D ATAXIAS

• AD

• AR

•

MITOCHONDRIA) DISTBR>ANC!S• X )IN!D R!C!SSI9!

• X )IN!D DOMINANT



INH!RIT!D ATAXIAS



INH!RIT!D ATAXIAS



ABTOSOMA) DOMINANT



• SPINO C!R!>!))AR ATAXIAS/T%pes0'pre2io&s$%o$i2opontocere#e$$ar atrophies

• DentatoR&#roPa$$ido)&%sian Atroph%

• !PISODIC ATAXIAS /T%pes 0

ABTOSOMA) DOMINANT



SCA SA)I!NT 8!ATBR!S

• 'th decade o" $i"e ONS!T5 $oss o"am#&$ation o2er ' %rs. "rom onset

• Phenomena ca$$ed ANTICIPATION and

P!N!TRANC! di:ers "rom eachSCAresponsi#$e "or 2ario&s a1es o"presentation and 2aria#$e phenot%pic

expression• CA* repeat expansion in most o" them

AD ATAXIAS< SA)I!NT



• BMN SI*NS SCA 5 SCA5 SCA • O)D!R A*!SCA U

• M!NTA) R!TARDATIONSCA

•

9ISBA) )OSS

SCA • CHOR!A5 MYOC)ONBSDRP)A

• S!ILBR!S SCA

• AR!8)!XIASCA

•

INT!R!PISODIC NYSTA*MBS!A • INT!R!PISODIC MYOYMIA !A

• NO 8AMI)Y hKo SCA U

AD ATAXIAS SA)I!NT8!ATBR!S



SCA

SCA M;D

SCA



ABTOSOMA) R!C!SSI9!ATAXIAS

ABTOSOMA) R!C!SSI9!



• 8RI!D!RIC<S ATAXIA

• ATAXIA T!)AN*I!CTASIA

• ATAXIA FITH ISO)AT!D 9IT.! D!8ICI!NCY

• A>!TA)IPOPROT!IN!MIA

• !NLYM! D!8ICI!NCI!S /Map$e S%r&p&rine disease5 Brea c%c$e de"ects5

Sia$idosis5 Adreno$e&cod%stroph%5Or1anicacid&ria5 P%r&2ate deh%do1enase de".0

ABTOSOMA) R!C!SSI9!ATAXIAS



8riederic4<s ataxia•

Bnsta#$e expansion o" *AArepeats8RATAXIN proteinironacc&m&$ation inmitochondrianito.inj&r%ne&rona$ inj&r%

•

DORSA) *AN*)ION C!))S' a#sent re=exes• DORSA) CO)BMN D!*!N!RATION'

dec.post.co$&mn senses

• SPINOC!R!>!))AR TRACT'1ait atxia5

d%sarthria• CORTICOSPINA) TRACT' >a#ins4i Positi2e

• OTH!R SI*NS' d%spha1ia5optic atroph%5 spina$and "oot de"ormities5 dia#etes /05 cardiac

de"ects /0



8riederic4<s ataxia



• NAT3RA4 "2TOR6:

'onset V %rs. At ADO)!SC!NC!

'$oss o" am#&$ation %rs. Since onset

'Death &s&a$%% d&e to cardiaccomp$ications

• VAR"ANT2:

'8A (ith Retained re=exes

')ate onset 8A

8riederic4<s ataxia



ATAXIA T!)AN*I!CTASIA

• OCB)OMOTOR APRAXIA 5 T!)AN*I!CATSIAS IN !Y!S5 SIN

• Hemato$o1ica$ ma$i1nancies

/de"ecti2e DNA repairs0

• In"ections /I1 de3ciencies0

• Other "eat&res'periphera$ne&ropath%5 choreoathetosis



ATAXIA T!)AN*I!CTASIA



Mitochondria$ Inheritance

• M!RR8

• M!)AS

• NARP

•

RP de1eneration• Short stat&re5 !ndocrine de3ciencies5



X $in4ed ATAXIAS

• X $in4ed Dominant' 8ra1i$e Xs%ndrome

• C** repeats< expansion



• X $in4ed Recessi2e Ataxias'Sidero#$astic anemia (ith ataxia

X $in4ed ATAXIAS

SPORADIC IDIOPATHIC



SPORADIC or IDIOPATHICATAXIAS

• Bn4no(n 1enetic de"ects a"ter r&$in1o&t acQ&ired ca&ses

• O$d a1e o" onset

• Presents (ith D%sa&tonomia 7Orthostatic h%potension5 erecti$ed%s"&nction5 Brinar% incontinence



In2esti1ations

• MRI >rain and Bpper cer2ica$ cord• CT Head• 9it. !5 > $e2e$s•

Tota$ cho$estero$ $e2e$s5 Th%roid hormones• NC9 and !M* st&dies /to r&$e o&t other

s%stems< in2o$2ement0• Toxico$o1% screen /inc$&des phen%toin

$e2e$s0• Sero$o1% screen /"or a&toanti#odies0• CS8 ana$%sis• *enetic Ana$%ses /*AA5 C**5 CA* repeat

ana$%ses0



TR!ATM!NT•

Re2ersi#$e ca&ses to #e identi3edand treated

• Str&ct&ra$ $esions to #e considered

"or s&r1er%• Dietar% modi3cations

• ID!>!NON!' in 8riederic4<s Ataxia

• RI)BLO)!' in 8riederic4<s Ataxia• AC!TALO)AMID!' in !pisodc Ataxia

• *!N!TIC COBNS!))IN*



HISTORY SBMMARY. D&ration6 ac&te5 s&#ac&te 2s chronic

. Rate o" Pro1ression6 static 2s pro1ressi2e. Constant 2s ParoxysmalW. Associated "eat&res6' headache 2omitin1 s&11estin1 mass $esion (ithraised ICP

' pre2io&s ne&ro$o1ica$ e2ents /simi$ar (ith ataxia ' as inepisodic ataxias5 or other as in m&$tip$e sc$erosis or2erte#ro#asi$ar TIAs0. Medica$ Histor%6' recent in"ection5 Hx o" ma$i1nanc% or (ei1ht $oss5

#reast mass K tenderness5 co&1h K hemopt%sis' dr&1 &se K intoxication5 medications5 alcohol5 smo4in15en2ironmenta$ expos&resU. amily History positi2e or ne1ati2e /in si#$in1s orco&sins #&t not parents s&11estin1 a&tosoma$ recessi2eor parents andKor si#s s&11estin1 a&tosoma$ dominantinheritance



!XAMINATION SBMMARY!eneral examination"

' si1ns o" primar% neop$asm /(ith paraneop$astic or metastaticataxia05 2asc&$ar disease /stro4e05 cardiac a#norma$it% /8riedreic4s0or a%ser'8$eischer rin1s /Fi$sons0

'short stat&re and cataracts (ith mitochondria$ disease

Higher Mental unctions6

' con"&sion associated (ith ataxia in Fernic4es5 dr&1 oren2ironmenta$ toxicit%5 prion diseases or an% condition o#str&ctin1Wth 2entric$e $eadin1 to h%drocepha$&s (ith raised ICP

http://www.uwo.ca/cns/resident/pocketbook/disorders/movement/frda.htm

http://www.uwo.ca/cns/resident/pocketbook/disorders/movement/frda.htm



#ranial $erves"' ophtha$mop$e1ia seen in Fernic4es5 #rainstemin"arcts5 dem%e$inatin1 $esions5 andMi$$er'8isher s%ndrome /M8S0' n%sta1m&s common in most 2esti#&$ocere#e$$ar/or pancere#e$$ar0 disorders #&t prominent i" dr&1toxicit% /e1. phen%toin05 Fernic4es and m&$tip$esc$erosis /a$so episodic ataxia'0' associated #rainstem /crania$ ner2e0 d%s"&nctioni" concomitant in2o$2ement o" #rainstem or

compression o" it #% mass e:ect "rom cere#e$$&m' hearin1 $oss or tinnit&s (ith $esions o" thecere#e$$opontine an1$e /e1. 2esti#&$ar sch(annomaor menin1ioma0

!XAMINATION SBMMARY

http://www.uwo.ca/cns/resident/pocketbook/disorders/cognitive/wernicke's.html

http://www.uwo.ca/cns/resident/pocketbook/disorders/neuromuscular/gbs.htm



http://www.uwo.ca/cns/resident/pocketbook/disorders/neuromuscular/gbs.htm




!XAMINATION SBMMARY

Motor"' (ea4ness associated (ith ataxia is &ncommon #&tcan #e seen ipsi$atera$$% (ith in"arcts /or other$esions0 o" the #asis pontis or interna$ caps&$e/ataxi% hemi&aresis s%ndrome0

' a$so seen in M8S /(ith concomitant dem%e$inatin1po$%ne&ropath%05 cord d%s"&nction /in paraneop$astics%ndromes or dem%e$inatin1 m&$ti"oca$ disease0' tremor associated either as intention tremor o"cere#e$$ar ori1in or post&ra$ tremor in 8XTAS /8ra1i$eX05 m&$tip$e sc$erosis5 Fi$sons disease

' m%oc$on&s in prion disorders (ith cere#e$$arin2o$2ement' par4insonism (ith ataxia in m&$tip$e s%stemsatroph% /a$so d%stonia and chorea i" DRP)A0

http://www.uwo.ca/cns/resident/pocketbook/approach/parkinsonism.html

http://www.uwo.ca/cns/resident/pocketbook/approach/parkinsonism.html



SBMMARY•

RB)! OBT ATAXIA MIMIC!RS-• CON8IRM PR!DOMINANT C!R!>!))AR

IN9O)9!M!NT FITH R!SP!CTI9! T!STS

• ANSF!R TH! 8OBR- B!STIONS

/Onset5 pro1ression5 S%mmetr%5)oca$isation o" $esion0

• RB)! OBT ACBIR!D CABS!S

• )AR*! P!DI*R!! CHART

• *!N!TIC ANA)YS!S

A)*ORITHM



A)*ORITHM

P!DI*R!!CHART

ACBIR!D CABS!S

AD

IMA*IN*/MRI5CT0

SCA5M;D

SCAU5

SCA5DRP)ASCA

8A

ATA9!D

A>!TA)IPOPROT!IN!MIA

