APPROACH TO ATAXIA

Dr. Deep Chandh Raja.S

SYNOPSIS
Important concepts in Ataxia
ATAXIA MIMICKERS
Tests of Cerebellar dysfunction
Step-wise approach to Cerebellar
Ataxias
Summary
ALGORITHM for cerebellar ataxias

In Simple Terms
ATAXIA- Absence of ORDER (Greek Word)
In Neurological TermsIncoordination of movement
A major feature of a disease or just one of
the various clinical features of a disease

Definition
Ataxia is the inability to make smooth,
accurate and coordinated movements
Arises from disorders of:
Cerebellum
Sensory pathways (Sensory Ataxia)
Posterior columns, dorsal root ganglia,
peripheral nerves
Frontal lobe lesions
Extra pyramidal system
Vestibular system

Tests to differentiate Various

systems in Ataxia- The Ataxia
Mimickers

Sensory Ataxia
(Posterior Column)

Labrynthine
Ataxia

Myopathy

Thalamic Ataxia

Cerebellar
Ataxia

Cortical Ataxia

Sensory Ataxia
(Peripheral
Neuropahy))

SENSORY ATAXIA

Disturbances in the sensory input to the

cerebellum
Tests of proprioception- Joint sense, passive
movement
The corrective effects of the Visual system
Classical Sensory Ataxic Gait
Rombergs sign
Loss of tendon reflexes
Features of Peripheral neuropathy

 Caveats
Friedericks ataxia, Multiple sclerosis
Overlap of clinical features to be
expected in clinical practice

Muscle weakness
In the Miller-Fisher syndrome, which is
considered to be a variant of acute GuillainBarr polyneuropathy
The severe ataxia and intention tremor are
presumably a result of a highly selective
peripheral disorder of spinocerebellar nerve
fibers
Simple tests of muscle power can help
detect muscle weakness in various muscle
groups
CAVEAT- lead poisoning

Labrynthine Disorders
Input to cerebellum
Dizziness, light headedness, perception
of movement, rotatory nystagmus
Infections, neoplasms, vascular causes
CAVEAT: involvement of flocculonodular
lobe of cerebellum, paraneoplastic and
lateral medullary syndromes (lateral
medulla and inferior lobe of cerebellum)

Cortical Ataxias
FRONTAL LOBE ATAXIA refers to disturbed coordination
due to dysfunction of the contralateral frontal lobe;
-Results from disease involving the
frontopontocerebellar fibers en route to synapse in the
pontine nuclei.
hyperreflexia, increased tone and Release reflexes
A lesion of the SUPERIOR PARIETAL LOBULE (areas 5
and 7 of Brodmann) may rarely result in ataxia of the
contralateral limbs

Thalamic
Ataxias
- transient ataxia affecting contralateral
limbs after lesion of anterior thalamus
- may see associated motor (pyramidal
tract) signs from involvement of internal
capsule
- also can result inasterixisin
contralateral limbs (hemiasterixis)

BEWARE OF EXTREMELY ANXIOUS

PATIENTS!!!

CEREBELLAR
ATAXIAS
ATAXIA IS THE MOST IMPORTANT
FEATURE AMIDST OTHER CLINICAL
SIGNS OF CEREBELLAR DYSFUNCTION

NEO CEREBELLUM

SPINO
CEREBELLUM

FLOCCULONODUL
AR LOBE

TESTS OF CEREBELLAR
DYSFUNCTION

ATAXIA
errors in the RATE, RANGE, FORCE &
DIRECTION of movement
GAIT ATAXIA
TRUNCAL ATAXIA
LIMB ATAXIA

CLASSIC FEATURES AND

TESTS
Dyssynergia: results in jerky decomposed
movements (heel-knee-shin test)
Dysmetria: due to delayed activation of
antagonists
- often correction to target by series of
jerky corrections (finger nose test)
- may lead tointention tremorin limbs
with finger-to-nose or foot-to-target testing
as rhythmic oscillation emerges close to
target
Dysdiadochokinesis: irregularities of
force, speed, and rhythm

Other features

Hypotonia: decrease in resistance to passive

movement of muscles related to depression of gamma
motor neuron activity (usually seen transiently in
acute phase of cerebellar lesions), pendullar knee jerk
Rebound phenomenon: related to poor tone and
weak check response, so when tap or displace limb,
wider range of movement in return to static position,
incl.Holmes phenomenonwhen suddenly release
flexed arm held against resistance - unable to stop
flexion and arm strike self (delay in activation of
antagonist triceps muscle)
Dysarthria: oftenscanningtype with irregularities in
tone, with words broken into syllables; often slow with
occasional rapid portions ("explosive speech")

Other features
Ocular Motor Abnormalities:
- usually if vestibular connections or flocculonodular
lobe affected
- pursuit movements no longer smooth, but saccadic
- may over- or under-shoot target with attempts at
fixation (ocular dysmetria)
- in primary position may see saccadic intrusions (such
asmacro square-wave jerks) or primary nystagmus
(incl. vertical, esp up-beat nystagmus) or periodic
alternating nystagmus
-rebound nystagmus can occur with contralateralbeating nystagmus on return of eyes to primary
position after eccentric gaze evoked nystagmus to one
side
Writing abnormalities
Positional projectile vomiting (posterior fossa
lesions)

APPROACH TO CEREBELLAR
ATAXIA
IN ADULTS

THE FOUR QUESTIONS????

Mode of ONSET ?
PROGRESSION ?

HISTORY

EXAMINATIO
Focal /Symmetric involvement ? N
Localisation of the cerebellar lesion ?

MODE OF ONSET
ACUTE- hours to days
SUB ACUTE- days to weeks
CHRONIC- months to years

ACUTE ONSET ATAXIA

INTOXICATION: alcohol , lithium ,
phenytoin , barbiturates
POST INFECTIOUS: Acute Viral
Cerebellitis, VZV
VASCULAR: Infarction (AICA, PICA
syndromes), Haemorrhage, Subdural
hematoma

SUB ACUTE ATAXIA

INTOXICATION:

Mercury, Solvents, Glue

NUTRITIONAL:

B1 and B12 deficiency

INFECTION:

HIV

DEMYELINATING: Multiple Sclerosis

NEOPLASTIC:

Glioma, Metastases

CHRONIC ATAXIA
AUTOIMMUNE CAUSES : Paraneoplastic
syndromes, Gluten hypersensitivity, Anti GAD
abs.
HYPOTHYROIDISM
INFECTIONS: Syphilis (Tabes Dorasalis)
CONGENITAL LESIONS: Arnold-Chiari and Dandy
Walker Syndromes
INHERITED ATAXIAS:
AD,AR,XR,XD,Mitochondrial

PROGRESSION
Progressive
Static
Intermittent symptoms
Reversible Ataxias

PROGRESSIVE ATAXIA
CLASSIFICATIONS OF GREENFIELD AND OF
HARDING
into three main groups:
(1) the spinocerebellar ataxias, with unmistakable
involvement of the spinal cord (Romberg sign,
sensory loss, diminished tendon reflexes, Babinski
signs);
(2) the pure cerebellar ataxias, with no other
associated neurologic disorders; and
(3) the complicated cerebellar ataxias, with a
variety of pyramidal, extrapyramidal, retinal, optic
nerve, oculomotor, auditory, peripheral nerve, and
cerebrocortical accompaniments including what is
now referred to as multiple system atrophy

STATIC ATAXIAS
Vascular causes

REVERSIBLE ATAXIAS

Infectious causes post viral

Thyroid
Drugs
Toxins
INTERMITTENT

SYMPTOMS

Episodic Ataxias (Inherited etiology)

FOCAL / SYMMETRIC
ATAXIAS
Cerebellar symptoms on same side of
lesion, or
Bilateral symptoms
FOCAL ATAXIAS
Vascular causes, Multiple Sclerosis,
Cerebellar abscess, cerebellar glioma,
PML (HIV), Congenital causes
SYMMETRIC ATAXIAS
Intoxication, Nutritional, Post inhectious,
Hypothyroid, Autoimmune causes

LOCATION OF LESION
CEREBELLAR HEMISPHERIC SYNDROME
Ipsilateral head & Body cerebellar signs
Infarct, Neoplasm, Abscess, Demyelination
ROSTRAL VERMIS SYNDROMEgait and
Trunk Ataxia Alcoholism, B1 deficiency
CAUDAL VERMIS SYNDROME
Disequilibrium, Trunk
ataxiaMedullobalstomas
PANCEREBELLAR SYNDROME Bilateral
signs Toxins, metabolic, Infections,
Autoimmune, Inherited
CEREBELLAR PEDUNCLES Dramatic
cerebellar symptoms

PICA
(Lateral medullary-Wallenberg
Syndrome)

AICA
(Lateral Inferior Pontine
Syndrome)

Vestibular N. i/l vertigo, nystagmus

Cochear n. i/l deafness
7th Cranial Nerve i/l facial palsy
Cerebellum i/l Ataxia
5th cranial nerve i/l hemisensory
loss of face
Spinothalamic Tract C/L
hemisensory loss

THE NEXT STEP RULE OUT

ACQUIRED
ATAXIAS

INHERITED
ATAXIAS

SPORADIC or
IDIOPATHIC
ATAXIAS

ACQUIRED ATAXIAS
First rule out the Structural causes
(MRI Brain/ CT head)
-CVJ anomalies
-Posterior fossa tumors
-Demyelinating diseases
-Hypoxic encephalopathies
-Vascular causes- infarct, haemorrhage

Acquired Causes
HYPOTHYROIDISM- Mild gait ataxia
PLUS Systems of hypothyroidism

ALCOHOLISM
Vermian Atrophy

TOXINS
Cancer chemotherapeutics 5 FU,
Cytarabine
Metals Bismuth, Mercury (parasthesiass,
restricted visual defects), Lead
SolventsPaint thinners , toluene
(Cognitive defects PLUS pyramidal tract
signs)
AnticonvulsantsPhenytoin (purkinje cell
loss)avoid in epileptics with ataxia

INFECTIONS
VZV in children
EBV in children
Bickerstaffs encephalitis (brain
stemophthalmoplegia,ataxia,lower c.n
palsies)
HIV ( Lymphomas, PML, Infections,
Toxoplasmosis)
CJD (17% classic CJD, Ataxic variant of
CJD)
Syphilis (Tabes Dorsalis)
Whipples disease

AUTOIMMUNE CAUSES
PARANEOPLASTIC SYNDROMES
ANTI Hu abs. Small Cell Cancer Lung
(extrapyramidal signs)
ANTI Yo abs. Ovarian cancer
ANTI Ri abs. Breast cancer (opsoclonus
saccadomania, Trunk ataxia)
ANTI Tr abs. Hodgkins lymphoma
(hearing loss)

AUTOIMMUNE CAUSES
GLUTEN SENSITIVITY - Anti Gliadin
abs.
(ataxia, brisk reflexes, peripheral
neuropathies)
ANTI GAD abs. Diabetes,
hypothyroidism, peripheral
neuropathySTIFF PERSON syndrome

NUTRITIONAL CAUSES
FAT MALABSORPTION- Vit. E
deficiency

Vit. B12 , B1 deficiencies

INHERITED ATAXIAS

AD
AR
MITOCHONDRIAL DISTURBANCES
X LINKED RECESSIVE
X LINKED DOMINANT

INHERITED ATAXIAS

INHERITED ATAXIAS

AUTOSOMAL DOMINANT

AUTOSOMAL DOMINANT
SPINO CEREBELLAR ATAXIAS
(Types131)-previously
olivopontocerebellar atrophies

DentatoRubroPallidoLuysian Atrophy

EPISODIC ATAXIAS (Types 17)

SCA SALIENT FEATURES

3-5th decade of life ONSET, loss of
ambulation over 10-15 yrs. from onset
Phenomena called ANTICIPATION and
PENETRANCE differs from each
SCAresponsible for various ages of
presentation and variable phenotypic
expression
CAG repeat expansion in most of them

AD ATAXIAS SALIENT
FEATURES

UMN SIGNS SCA 1, SCA7, SCA 8

OLDER AGESCA 6
MENTAL RETARDATIONSCA 13
VISUAL LOSSSCA 7
CHOREA, MYOCLONUSDRPLA
SEIZURES SCA 10
AREFLEXIASCA 2
INTEREPISODIC NYSTAGMUSEA 2
INTEREPISODIC MYOKYMIA EA1
NO FAMILY h/o SCA 6

MJD

SCA 2

SCA 7

SCA 5

AUTOSOMAL RECESSIVE
ATAXIAS

AUTOSOMAL RECESSIVE
ATAXIAS

FRIEDERICKS ATAXIA
ATAXIA TELANGIECTASIA
ATAXIA WITH ISOLATED VIT.E DEFICIENCY
ABETALIPOPROTEINEMIA
ENZYME DEFICIENCIES (Maple Syrup
urine disease, Urea cycle defects,
Sialidosis, Adrenoleucodystrophy,Organic
aciduria, Pyruvate dehydogenase def.)

Friedericks ataxia
Unstable expansion of GAA
repeatsFRATAXIN proteiniron
accumulation in
mitochondrianito.injuryneuronal injury
DORSAL GANGLION CELLS- absent reflexes
DORSAL COLUMN DEGENERATIONdec.post.column senses
SPINOCEREBELLAR TRACT-gait atxia,
dysarthria
CORTICOSPINAL TRACT- Babinski Positive
OTHER SIGNS- dysphagia,optic atrophy, spinal
and foot deformities, diabetes (10%), cardiac
defects (50%)

Friedericks ataxia

Friedericks ataxia
NATURAL HISTORY:
-onset <25 yrs. At ADOLESCENCE
-loss of ambulation 15 yrs. Since onset
-Death usualyy due to cardiac
complications
VARIANTS:
-FA with Retained reflexes
-Late onset FA

ATAXIA TELANGIECTASIA
OCULOMOTOR APRAXIA ,
TELANGIECATSIAS IN EYES, SKIN
Hematological malignancies
(defective DNA repairs)
Infections (Ig deficiencies)
Other features-peripheral
neuropathy, choreoathetosis

ATAXIA TELANGIECTASIA

Mitochondrial Inheritance
MERRF
MELAS
NARP

RP degeneration
Short stature, Endocrine deficiencies,

X linked ATAXIAS
X linked Dominant- Fragile X
syndrome
CGG repeats expansion

X linked ATAXIAS
X linked Recessive AtaxiasSideroblastic anemia with ataxia

SPORADIC or IDIOPATHIC
ATAXIAS

Unknown genetic defects after ruling

out acquired causes
Old age of onset
Presents with Dysautonomia
Orthostatic hypotension, erectile
dysfunction, Urinary incontinence

Investigations

MRI Brain and Upper cervical cord

CT Head
Vit. E, B12 levels
Total cholesterol levels, Thyroid hormones
NCV and EMG studies (to rule out other
systems involvement)
Toxicology screen (includes phenytoin
levels)
Serology screen (for autoantibodies)
CSF analysis
Genetic Analyses (GAA, CGG, CAG repeat
analyses)

TREATMENT
Reversible causes to be identified
and treated
Structural lesions to be considered
for surgery
Dietary modifications
IDEBENONE- in Friedericks Ataxia
RILUZOLE- in Friedericks Ataxia
ACETAZOLAMIDE- in Episodc Ataxia
GENETIC COUNSELLING

HISTORY SUMMARY
1. Duration: acute, subacute vs chronic
2. Rate of Progression: static vs progressive
3. Constant vsParoxysmal
4. Associated features:
- headache & vomiting suggesting mass lesion with
raised ICP
- previous neurological events (similar with ataxia - as in
episodic ataxias, or other as in multiple sclerosis or
vertebrobasilar TIAs)
5. Medical History:
- recent infection, Hx of malignancy or weight loss,
breast mass / tenderness, cough / hemoptysis
- drug use / intoxication, medications,alcohol, smoking,
environmental exposures
6.Family Historypositive or negative (in siblings or
cousins but not parents suggesting autosomal recessive
or parents and/or sibs suggesting autosomal dominant
inheritance

EXAMINATION SUMMARY
General examination:
- signs of primary neoplasm (with paraneoplastic or metastatic
ataxia), vascular disease (stroke), cardiac abnormality (Friedreick's)
or Kayser-Fleischer rings (Wilson's)
-short stature and cataracts with mitochondrial disease

Higher Mental Functions:

- confusion associated with ataxia in Wernicke's, drug or
environmental toxicity, prion diseases or any condition obstructing
4th ventricle leading to hydrocephalus with raised ICP

EXAMINATION SUMMARY
Cranial Nerves:
- ophthalmoplegia seen inWernicke's, brainstem
infarcts, demyelinating lesions, and
Miller-Fisher syndrome(MFS)
- nystagmus common in most vestibulocerebellar
(or pancerebellar) disorders but prominent if drug
toxicity (eg. phenytoin),Wernicke'sand multiple
sclerosis (also episodic ataxia-2)
- associated brainstem (cranial nerve) dysfunction
if concomitant involvement of brainstem or
compression of it by mass effect from cerebellum
- hearing loss or tinnitus with lesions of the
cerebellopontine angle (eg. vestibular schwannoma
or meningioma)

EXAMINATION SUMMARY
Motor:
- weakness associated with ataxia is uncommon but
can be seen ipsilaterally with infarcts (or other
lesions) of the basis pontis or internal capsule
(ataxic hemiparesissyndrome)
- also seen in MFS (with concomitant demyelinating
polyneuropathy), cord dysfunction (in paraneoplastic
syndromes or demyelinating multifocal disease)
- tremor associated either as intention tremor of
cerebellar origin or postural tremor in FXTAS (Fragile
X), multiple sclerosis, Wilson's disease
- myoclonus in prion disorders with cerebellar
involvement
-parkinsonismwith ataxia in multiple systems
atrophy (also dystonia and chorea if DRPLA)

SUMMARY
RULE OUT ATAXIA MIMICKERS
CONFIRM PREDOMINANT CEREBELLAR
INVOLVEMENT WITH RESPECTIVE
TESTS
ANSWER THE FOUR QUESTIONS
(Onset, progression, Symmetry,
Localisation of lesion)
RULE OUT ACQUIRED CAUSES
LARGE PEDIGREE CHART
GENETIC ANALYSES

ALGORITHM
IMAGING
(MRI,CT)

AD
SCA1,2
MJD
SCA6,7
SCA10,12
DRPLA
SCA17

PEDIGREE
CHART

ACQUIRE
D CAUSES

FA
AT
AVED
ABETALIPOPROTEINEM
IA