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Ataxia definitionAtaxia definition path physiologypath physiology CausesCauses History & examinationHistory & examination InvestigationsInvestigations Overview on the most common causesOverview on the most common causes

Defention: derived from greek word meaning Defention: derived from greek word meaning irregularityirregularity

The coordination of movement depend on:The coordination of movement depend on: Cerebellum & its connectionCerebellum & its connection….cerebellar ….cerebellar

ataxia( ataxia gait, limb ataxia( ataxia gait, limb incoordination,tremer,dysarthria, nystagmus)incoordination,tremer,dysarthria, nystagmus)

Sensory feed backSensory feed back….sensory ataxia (ataxia of gait ….sensory ataxia (ataxia of gait &limb at dark,loss of proicption,+ve romberg test)&limb at dark,loss of proicption,+ve romberg test)

cerebellumcerebellum

VestibulocerebellumVestibulocerebellum”” Input: vestibular ,visual pathInput: vestibular ,visual path Out put:feed back to the vestibular nuclieOut put:feed back to the vestibular nuclie Lesion :disturbe equlibrum,wide base Lesion :disturbe equlibrum,wide base

gait ,nystagmusgait ,nystagmus Spinocerebellum:Spinocerebellum: Input ;somatosensory via the spinal cordInput ;somatosensory via the spinal cord Output: brain stem reticular ,lateral vestibular Output: brain stem reticular ,lateral vestibular

nuclienuclie Lesion :vermis truncal ataxia, lateral limb ataxiaLesion :vermis truncal ataxia, lateral limb ataxia

cerebellumcerebellum

Cerebrocerenellum:Cerebrocerenellum: Input:cortico pontineInput:cortico pontine Output:feedback dentate,thalamus..cortex Output:feedback dentate,thalamus..cortex

motor,premotormotor,premotor Lesion:impair complex voulntry movement, Lesion:impair complex voulntry movement,

smooth &persizesmooth &persize

contcont

Clinical assessment is complicated by the Clinical assessment is complicated by the fact that few ataxic patient have pure fact that few ataxic patient have pure cerebeller disease, additional pathology is cerebeller disease, additional pathology is often present, brain stem,spinal cord,..often present, brain stem,spinal cord,..

Ataxia also may be due to weaknessAtaxia also may be due to weakness

Ataxia causesAtaxia causes

Acquired:Acquired: Hereditary:Hereditary:

known metabolic defect known metabolic defect

not known metabolic defectnot known metabolic defect

Acquired causesAcquired causes

InfectionInfection: posterior fosse abscess, cerebellitis: posterior fosse abscess, cerebellitis VascularVascular:Hge, infarction, TIA :Hge, infarction, TIA DemyelinatingDemyelinating: MS, Sensory PN( miller fisher): MS, Sensory PN( miller fisher) MalignancyMalignancy: tumor : tumor Toxin &drugToxin &drug: INH, lithium,cyclosporin,cystosine : INH, lithium,cyclosporin,cystosine

arabiniside, phyntoin, procainamidearabiniside, phyntoin, procainamide ParaneoplasticParaneoplastic MetabolicMetabolic: vit E deficiency , hypothyroidism: vit E deficiency , hypothyroidism

hereditaryhereditary

Known metabolic defKnown metabolic def

DNA repair defectDNA repair defect

Unknown etiologyUnknown etiology

Hereditary known metabolic defectHereditary known metabolic defect

IntermittentIntermittent ProgressiveProgressive

Hereditary causesHereditary causes

Ataxia is prominent featureAtaxia is prominent feature Intermittent:Intermittent: Hyperammonimea,aminoacidurea,disorder of pyrvate Hyperammonimea,aminoacidurea,disorder of pyrvate

&lactate&lactate Progreesive:Progreesive: AbetalipprotenimeaAbetalipprotenimea Leukodystrophy:metachromaticLeukodystrophy:metachromatic Mitochondrial encephalomyopathyMitochondrial encephalomyopathy Wilson diseaseWilson disease SialdosisSialdosis Other:hexamindase def,sphyngomylin storage dis, ceroid Other:hexamindase def,sphyngomylin storage dis, ceroid

lipfuscinosis,cholstrenolosis……lipfuscinosis,cholstrenolosis……

Defect DNA repairDefect DNA repair

ataxia telengctasiaataxia telengctasia Xerderma pigmentosaXerderma pigmentosa Cocakayne syndromeCocakayne syndrome

Hereditary ataxia with unknown Hereditary ataxia with unknown etiology(degenerative)etiology(degenerative)

AR early on set before 20yAR early on set before 20y Friedreichs ataxiaFriedreichs ataxia Early onset cerebellar ataxia with non fredreichsEarly onset cerebellar ataxia with non fredreichs Retained tendon reflexRetained tendon reflexHypogonadismHypogonadismMyclonusMyclonusChildhood defnessChildhood defnessCongintal defectCongintal defectoptic atrophy +_ MRoptic atrophy +_ MRCataract & MRCataract & MRPigmented retinopathyPigmented retinopathy Late onsetLate onset

Hereditary with unknown metabolic defecHereditary with unknown metabolic defecspinocerebllum degenerationspinocerebllum degeneration

AR: <20yAR: <20y

AD: >20yAD: >20y

Herdiatry ADHerdiatry AD

ADCA I: ataxia, opthalmoplasia,optic ADCA I: ataxia, opthalmoplasia,optic atrophy,dementia, extraprymidal(include atrophy,dementia, extraprymidal(include machado-joseph)machado-joseph)

ADCA II: ataxia with pigment ADCA II: ataxia with pigment maculopathy+_ opthalmoplasia or maculopathy+_ opthalmoplasia or extraprymidal signextraprymidal sign

ACDAIII: pure ataxiaACDAIII: pure ataxia Periodic dominant ataxiaPeriodic dominant ataxia

History &examHistory &exam

onsetonset Acute :vascular Acute :vascular

subacute: otherssubacute: others Course:Course: episodic( MS,drug,TIA, foramen magnum episodic( MS,drug,TIA, foramen magnum

compression, intermittent hydrocephalus colloid compression, intermittent hydrocephalus colloid cyst, inherited met, dominant periodic ataxiacyst, inherited met, dominant periodic ataxia

Progressive: inherited, tumor, paraneoplastic, Progressive: inherited, tumor, paraneoplastic, hydrocephalus, vit E deficiency ,ms, hereditary hydrocephalus, vit E deficiency ,ms, hereditary motor sensory neuropathymotor sensory neuropathy

c/pc/p

Opsclonus, ocular flatter: viral cerebellitis, Opsclonus, ocular flatter: viral cerebellitis, ParaneoplasticParaneoplastic

Extraprymidal: ataxia telngactasia,late onset Extraprymidal: ataxia telngactasia,late onset ataxia, wilson diseaseataxia, wilson disease

Myclonus:mitochondrial Myclonus:mitochondrial encephalopathy,sialidosisencephalopathy,sialidosis

C/PC/P

Hyporeflxia: Hyporeflxia: (loss of propiception):(loss of propiception):

FA,other inherited degenerative,vitE FA,other inherited degenerative,vitE def,hypothyrodism,alcholic,miller def,hypothyrodism,alcholic,miller fisher,leukodystrophy,PN,ataxia fisher,leukodystrophy,PN,ataxia telengctasia,xerderma pigmentosa, refsum telengctasia,xerderma pigmentosa, refsum diseasedisease

DefnessDefness: several inherited : several inherited ataxia,mitochodrial,refsum diseaseataxia,mitochodrial,refsum disease

c/pc/p

Dementia: hydrocephalus, some Dementia: hydrocephalus, some degenerativedegenerative

Optic atrophy: FA late,MS, inherit, alcholismOptic atrophy: FA late,MS, inherit, alcholism Retinopathy: mitochondrial encephalopathyRetinopathy: mitochondrial encephalopathy

Systemic manifestationSystemic manifestation

Hair loss: hypothyrodism.Hair loss: hypothyrodism. Skin: telengectasia conjactiva,nose,ears…Skin: telengectasia conjactiva,nose,ears…

ataxia Telengectasiaataxia Telengectasia Light sensitivity: xeroderma pigmentosaLight sensitivity: xeroderma pigmentosa Dry skin: Dry skin:

refsum, hypothyrodism, cockayan syndromerefsum, hypothyrodism, cockayan syndrome

systemic manifestationsystemic manifestation

Eye: kayser-fleisher ring(wilson)Eye: kayser-fleisher ring(wilson) catarct (mitochondrial encephalopathy)catarct (mitochondrial encephalopathy) retinal angioma :von hipple lindau retinal angioma :von hipple lindau Fever: abscess, cerebillitesFever: abscess, cerebillites Vomiting: stroke, tumor, metabolic Vomiting: stroke, tumor, metabolic Hepatomegaly: wilsonHepatomegaly: wilson Heart disease: cardiomyopathy FA, conduction Heart disease: cardiomyopathy FA, conduction

block.(.mitochondrial encephalopathy)block.(.mitochondrial encephalopathy)

otherother

Immune deficiency :ATImmune deficiency :AT Malnutrition: vit E def, alcholismMalnutrition: vit E def, alcholism Skeletal deformity: FA,other early onset Skeletal deformity: FA,other early onset

spinocerebeelum degeneration, hereditary spinocerebeelum degeneration, hereditary motor &sensory neuropathymotor &sensory neuropathy

Hypogonadism: mitochondrial, AT.Hypogonadism: mitochondrial, AT.

investigationinvestigation

R/O acquired causes :R/O acquired causes : CT brain, MRICT brain, MRI LPLP EMG,NCSEMG,NCS TFTTFT lipidlipid

Look for degenerative ataxiaLook for degenerative ataxiatesttestEarly onsetEarly onsetLate >20yLate >20y

lipidlipidhyporeflexhyporeflex

Vit EVit Ehyporeflexhyporeflex

MRI,CTbrainMRI,CTbrainYYyy

Alpha fetoAlpha fetoyynono

IgGIgGyynono

VLCFA,ACTHVLCFA,ACTHmalemale

ceroplasminceroplasminY Y

lactatelactateyyyy

geneticgenetic

FAFA

The most common of AR ataxia, 50% of heridatry ataxiaThe most common of AR ataxia, 50% of heridatry ataxia Gene map chr: 9q13,trinucletide repeared diseaseGene map chr: 9q13,trinucletide repeared disease PathologyPathology:: Spinal cord:Spinal cord: Postrior colum (loss of reflex) Postrior colum (loss of reflex)

Corticospinal tract(weakness ,upgowing toes)Corticospinal tract(weakness ,upgowing toes) Spinocerebeller:ataxia,dysarthriaSpinocerebeller:ataxia,dysarthria Loss of purkinge cell in cerebellum,pontine medulla,optic nLoss of purkinge cell in cerebellum,pontine medulla,optic n PNPN Mycardial muscle fiberMycardial muscle fiber

C/PC/P

Onset:< 25yOnset:< 25y Begin gait ataxia early, dysarthria laterBegin gait ataxia early, dysarthria later PN,sensory &cerebeller ataxiaPN,sensory &cerebeller ataxia WeaknessWeakness Optic atrophy 25%,defness 10%Optic atrophy 25%,defness 10% O/E: pescavus ,hammertoes,kyphlscliosisO/E: pescavus ,hammertoes,kyphlscliosis CardiomyopathyCardiomyopathy Dec or absent reflex, loss vibration, up going Dec or absent reflex, loss vibration, up going

toes,ataxia ,dysarthria, romberg +vetoes,ataxia ,dysarthria, romberg +ve

diagnosisdiagnosis

ClinicalClinical Lab:Lab: MRI brainMRI brain: early n,then cerebeller atrophy: early n,then cerebeller atrophy MRI spineMRI spine: may atrophy cervical part: may atrophy cervical part NCSNCS:sensory absent in LL, slow in UL:sensory absent in LL, slow in UL ECGECG:wide spread T wave ,VH:wide spread T wave ,VH ECHOECHO:symetrical cocentric VH:symetrical cocentric VH Gene studyGene study