APPROACH TO ATAXIA

Dr Jithesh R
M6
Ataxia
 The loss of full control of body movements
 Greek word “ataxis” =“without order or
incoordination”
Ataxia
 Refers to a disturbance in the smooth performance
of voluntary motor acts causing muscular
incoordination or impaired balance.


 Cerebellar ataxia
 Sensory ataxia
 Vestibular ataxia
 Is regarded as “cerebellum sign par excellence “

 In absence of cerebellar modulating and inhibitory

influences, skilled movements originating in cerebral
motor cortex become inaccurate and poorly
controlled.
 May affect the limbs, trunk & gait.
 Symmetric and progressive
 Focal and ipsilateral
 Episodic/recurrent ataxia

 Acute
 Subacute
 Chronic
 Symmetric and progressive
Acute Sub acute Chronic
Intoxication :alcohol Intoxication :mercury Para neoplastic syndrome
lithium solvents ca breast
Phenytoin gasoline ca ovary ANTI YU
Barbiturates glue ca lung ANTI PQ gated
ca channel
Acute viral cerebellitis Fluro uracil Anti gliadin antibody syndrom
Post infection syndrome Paclitaxel Hypothyroidism
varicella Alcoholic –nutritional INHERITED DISEASES
polio virus vit B1 & B12 def Tabes dorsalis
cox sackie virus Lymes disease Phenytoin toxicity
EBV Poly radiculoneuropathy
Toxoplasmosis Miller fischer variant GBS
Baterial meningitis
hypoglycemia
hyponatremia
 Focal and ipsilateral

Acute Sub acute Chronic

Vascular Neoplastic Stable gliosis

infarction cerebellar glioma/mets Congenital lesion

hemorrhage Demyelinating Arnold chiari

SDH multiple sclerosis Dandy walker

malformation

Infectious: abscess AIDS related multi focal

Leuco encephalopathy
Episodic /recurrent ataxia

Channelopathies
EA1—EA7
Familial hemiplegic migraine
Basilar migraine
Epilepsy –post ictal
Hypoglycemia
Hyperammonemia
Maple syrup urine disease
Hartnup disease
Pyruvate decarboxylase def
Organic acid disorders
HISTORY
 Time of onset
 Pattern of onset
 Fever
 Personal history
 Sexual history
 Drug history
General examination
 Anemia –vit b12 def
 Short stature – mitochondrial disease,early CNS
insult, ataxia telengictasia
 Conjuctival telengiectasia
 Cutaneous telengectasia ataxia telengiectasia
 Pes cavus & scoliosis in friedreichs ataxia
 Skin lesions in post varicella
 Ulcers and charcots joints in Tabes dorsalis
 Organomegaly- alcohol-CLD
 Cardio vascular system –friedreichs ataxia
 Ca breast –mass lesion
 DM- Friedrich ataxia
 Papilloedema –raised ICT
 Syrinx in Arnold chiari Malformation
INHERITED ATAXIA
 AUTOSOMAL DOMINANT
 Spino cerebellar Ataxia 1-36
Dentatorubropallidoluysian atrophy
Episodic ataxia 1-7
 Genetic causes of ataxia:

1. Autosomal recessive :
 Friedrich ataxia
 Ataxia telengiectasia
 Abetalipo proteinemia
 Ataxia with Vit E deficiency(AVED)
3. Mitochondrial :
 MELAS(Mitochondrial encephalopathy,lactic

acidosis,stroke like syndrome)

 NARP(Neuropathy,ataxia,retinitis pigmentosa)

 MERRF(Myoclonic epilepsy with ragged red fibres)

Causes of sensory ataxia :

 Friedrich ataxia
 Sjogren syndrome
 DM
SPINO CEREBELLAR ATAXIA
 SCA 1
 olivopontocerebellar atrophy
 early or middle adult life
 progressive cerebellar ataxia of trunk and limbs
 impairment of equilibrium and gait
 slowness of voluntary movements,scanning speech,
nystagmus and oscillatory tremor of head and trunk
Cont.
 Extrapyramidal symp..rigidity,tremor can be seen
 Dementia

 MRI- cerebellar and brainstem atrophy

 histology: loss of purkinje cell,reduced number of
cells in molecular and granular layer
 Demyelination of middle cerebellar peduncle and
cerebellar hemisphere, loss of cells in pontine nuclei
and olives
Genetics
 SCA1 gene encodes ataxin 1
 CAG repeats more than 40 in encoding region in
mutant allele
SCA 2
 Age of onset 2-65 yrs
 Retinal degeneration, rigidity, dysarthria, mild
spasticity

 SCA2 gene ataxin 2

 CAG repeats 35-77 in mutant alleles
SCA 3 Machado Joseph Disease
 Most common AD ataxia
 Type 1-3
 Type1
 ALS-PARKINSONISM-DYSTONIA
 Spasticity of extremities , patellar ankle clonus ,
ophthalmoplegia ,pharyngeal weakness and
spasticity , broad based gait
 Type 2
 2nd -4rth decade
 Extrapyramidal rigidity , dystonia
 m/c form of MJD

 Type 3
 Ataxic amyotrophic type
 5th-7th decade
 Pancerebellar with dysarthria,gait and ataxia
 Peripheral neuropathy
 Loss of neuron and glial replacement in corpus
striatum
 Moderate loss of neuron in dentate nucleus of
cerebellum
 Purkinje cell loss and granule cell loss in cerebellar
cortex
 CAG repeats in MJD gene coding for ataxin 3
 60-84 repeats
DENTATORUBROPALLIDOLUYSIAN
ATROPHY
 Progressive ataxia,dystonia,choreo
athetosos,seizures and dementia
 CAG repeats 49 in atrophin gene chr 12p
EPISODIC ATAXIA
 EA1 –brief episode of ataxia with nystagmus lasts only
few minutes
 Startle,sudden change in posture and exercise induce
episodes
 Rx Acetazolamide or anticonvulsants

 EA 2
 Ataxia with nystagmus lasts for hours or days
 Stress,exercise,fatigue induce symptoms
 Rx Acetazolamide
AUTOSOMAL RECESSIVE
FRIEDRICH’S ATAXIA

 Most common form of inherited ataxia

 Can find along with genetically determine VitE deficiency

 Present before 25yrs of age with progressive staggering

gait, frequent falling & titubation
O/E :
 Nystagmus

 Loss of fast saccadic eye movement

 Truncal titubation

 Dysarthria

 Dysmetria

 Ataxia of trunk and limb movements

 Extensor plantar response with preserved reflexes

• Loss of vibratory & position sense
 Median age of death- 35yr
 Women had better prognosis than men

 Cardiac involvement occurs in 90% cases

-symmetric hypertrophic cardiomyopathy

-Murmurs ,conduction defect
 Moderate mental retardation in some patients
 20% patient had Diabetes mellitus
 Also had musculoskeletal abnormality- Pescavus,
scoliosis
 Primary site of pathology – spinal cord, dorsal root
ganglion & peripheral nerve
• Slight atrophy of cerebellum (+)
 Sclerosis & degeneration of spinocerebellar tract,
lateral corticospinal tract & posterior column

Genetic consideration
 Chr :9 is affected
 Mutant gene –frataxin
 GAA triplet
ATAXIA TELENGIECTASIA
 First decades
 Telengiectatic lesion a/w cerebellar dysfunction &
nystagmus
 Truncal & limb ataxia, dysarthria, extensor plantar,
myoclonic jerk, areflexia
 High incidence of recurrent pulmonary infections,
lymphatic & reticuloendothelial neoplasm, thymic
hypoplasia, Type 1 DM,lymphomas, Ca breast
 most striking neuropathology finding- loss of
purkinje, granule & basket cell in cerebellar cortex
and neurons in deep cerebellar nuclei
TREATMENT

 Mass lesion treated accordingly

 Paraneoplastic –underlying disorder
 Antigliadin antibody –gluten free diet
 Vitamin E therapy in AVED
 Treatment of infections in infection related ataxia
 Alcohol and phenytoin should be avoided in ataxia
of any cause
 Idebenone free radical scavenger improve
myocardial hypertrophy in friedreichs ataxia
 Acetazolamide in episodic ataxia
 Genetic counselling