ATAXIA

Sukhman Riar
 WHAT IS ATAXIA?

• Clumsy and uncoordinated voluntary movements of limbs,

trunk and cranial muscles
• Pathology related to cerebellum and its connection, or
proprioceptive sensory pathways
• Divided into:
• Acute (72hr)
• Subacute (wks to mths)
• Chronic or episodic (mths to yrs)
• May accompany slurred speech, diplopia, oscillopsia (unstable
vision), or tremor due to involvement of cerebellum
 ANATOMY OF ATAXIA

• Usually due to cerebellar disturbances

• Spinocerebellum - anterior lobe and vermis
• involves limbs and trunk  postural stability
• Pontocerebellum – posterior lobe
• Involves arms  fine motor movements
• Vestibuocerebellum – flocculonodular lobe
• involves face  equilibrium and eye movements
• Sensory ataxia – impairment in somatosensory nerves causing poor
sensory feedback
• Postural instability and lack of coordination when visual input
removed
 COMMON CAUSES OF ATAXIA

Acute – drug/toxin ingestion, trauma, infections (acute post-infectious cerebellitis),

tumours

Subacute – CNS tumours, psychogenic, seizure disorder, medication induced,

inflammatory (GBS), ADEM

Chronic – gluten insensitivity, CNS tumours, hydrocephalus, congenital

malformation, hereditary ataxia, metabolic disorders, genetic disease, psychogenic
 FEATURES OF HISTORY

• Clarify progression and onset ataxia – duration, prev episodes, triggers, alleviating factors
• Body parts affected - trunk, limbs, eyes, mouth
• Presence of assoc sx:
• Headache – brain tumour, hydrocephalus
• Vomiting – tumour, trauma, cerebellar stroke, vertigo, basilar migraine
• Nystagmus – neuroblastoma, cerebellar lesion, labyrinthitis, trauma
• Seizures – trauma, tumour, seizure disorder, CNS infections
• Confusion, low GCS – ADEM, drug intoxication, vascular abnormality, infection, non-convulsive SE
• Antecedent hx:
• Similar episodes in past/fam hx – Genetic ataxia, episodic ataxia
• Recent immunization – ADEM, GBS, transverse myelitis, post infectious cerebellitis
• Recent illness with fever, rash, altered sensorium – meningoencephalitis, cerebellitis, TB, cerebellar abscess, systemic infection
• Unsteadiness/fall over last few hours to days – drug intoxication, trauma, tumour
 Cerebellar ataxia Sensory ataxia

Gait Broad-based, staggering Stamping, high-stepping

Intention tremor Present Only on closed eyes

Eye movements Nystagmus, disconjugate Usually normal

saccades

Psuedoathetosis Absent Usually present

Dysmetria Present Significant with eyes closed

E X A MI N AT I O N
Dysarthria Scanning speech Absent FINDINGS
Deep tendon reflex Absent/present Normal/pendualr

Proprioception Intact Impaired

Romberg’s test Negative Positive

Rebound phenomenon Present Absent

Hypotonia Present Absent

 ACUTE ATAXIA

Aetiology Examples Salient features Management

Toxic ingestion Benzodiazepines, anti- Altered mental status or drowsiness Ix: Urine and blood toxicology
seizures, essential oils, Common in 1-4yr old screen, FBC, LFTs
alcohol Prominent gait ataxia Anti-dote, symptomatic relief
Focal neurological deficits

Post-infectious Post-infectious cerebellar Prodromal illness 5-10d before illness Benign, self-limited
ataxia Gait impairment Supportive care
Child appears well
Nil fever or neuro sx

Trauma/vascular PCA stroke, Hx of head/neck trauma Ix: Magnetic resonance

vertebrobasilar dissection, Hypercoagulable risk factors angiography, catheter carotid
vasculitis, cerebellar Headache, severe vomitting angiography, CT
VTE, haemorrhage Maximal neuro decifit at onset Monitor in ICU, neurology and/or
neurosurgeon consult
 SUBACUTE ATAXIA

Aetiology Examples Salient features Management

Conversion Distractible neuro exam Mental health team involvement

disorder/ Astasia-abasia gait with functional neurorehabilitation
psychogenic

Post-infectious/ ADEM, meningitis, Mental status change Ix: Viral titre, CSF analysis,
inflammatory encephalitis, GBS Multifocal neurological deficits lumbar puncture, MRI
Preceding illness IV steroids, IV immunoglobulins,
plasma exchange, IV abx

Paraneoplastic Neuroblastoma, Posterior fossa commonly affected in Ix: Urine HVA,

meningioma, ependyomas children
Raised ICP, headaches, N&V, nerve
palsy, papilloedema, irritability
Tumour resection and mx under
oncology, IV steroids, IV
immunoglobulin,
immunomodulatory agents (eg.
rituximab)
 CHRONIC ATAXIA
Aetiology Examples
Metabolic Amino acid disorders,
mitochondrial disease,
urea cycle defects
Episodic Basilar migraine, BPPV
ataxia/migraine
Inherited ataxias Autosomal recessive
(Freidreich’s ataxia, ataxia
telangiectasia), autosomal
dominant (spinocerebellar
ataxias)
Salient features
Intercurrent illness eg. hypoglyacemia,
hyponaterimia, hypocalcemia
Episodic ataxia have 8 types
Vertigo, nystagmus, N&V, headache
Child normal b/w attacks
Regressive course of illness
Absent reflexes, illness
Management
Ix: FBC, UECs, serum amino acids,
urine organic acids, lactate genetic
testing
Carb restriction, thiamine
supplementation,
Ix: specific gene sequancing, nerve
conduction studies, EMG,
immunoglobulin levels
Ix: Urine HVA,
Tumour resection and mx under
oncology, IV steroids, IV
immunoglobulin,
immunomodulatory agents (eg.
rituximab)
 HEREDITARY ATAXIA

Friedreich's ataxia
• Most common autosomal recessive ataxia
• Affects FXN gene on chr 9
• Presents in adolescence (10-15yr)
• Progressive ataxia of all limbs, cerebellar dysarthria, hearing and vision
loss but cognition preserved
• Assoc w. kyphoscoliosis, high arched palate
• S/S: gait ataxia, intention tremors, spastic paralysis, dysarthria,
nystagmus, urinary incontinence
• Ix: trinucleotide repeat expansion, ECG, nerve conduction studies
(absent/reduced), MRI spinal cord and brain (cervical spine atrophy)
• Mx: genetic counselling, physio, speech and language therapy
 HEREDITARY ATAXIA

Ataxia telangiectasia
• Autosomal recessive neurodegenerative disease
• Affects ATM gene on chr 11
• Begins in early childhood (1-5yr)
• Progressive deterioration of all developmental domains
• Assoc w. immunodeficiency and malignancy
• S/S: ataxia, telangiectasia (eyes, skin, face, neck), recurrent
infections, nystagmus, dysarthria
• Ix: high alpha-fetoprotein, low immunoglobulins IgA, IgG, IgE,
non-specific cerebral atrophy on MRI
• Mx: regular cancer screening, immunoglobulins injections, abx