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Approach to a Patient with Ataxia
This document provides an overview of approach to a patient presenting with ataxia. It begins with defining ataxia and describing the anatomy and physiology of the cerebellum. It then discusses differentiating cerebellar ataxia from other causes. The document classifies ataxias as hereditary or acquired and further subclassifies each. Within hereditary ataxias, it describes several specific conditions like Friedreich's ataxia and autosomal dominant ataxias. Within acquired ataxias, it briefly discusses acute cerebellar ataxia and ataxia-telangectasia. Treatment approaches are also mentioned.
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Approach to a Patient with Ataxia
- 1. Approach to aPatient with Ataxia Dr. Aminur Rahman FCPS (Med), MD(Neuro) ,FINR (Switzerland), Member ACP (USA) Member AAN (USA) Fellow Interventional Neuroradiology (Thailand) Assistant Professor Department of Neurology Sir Salimullah Medical College
- 2. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion
- 3. Definition Ataxia (Gk.A Taxis = Order; means lack of order) Ataxia denotes a syndrome of imbalance and incoordination involving gait, limbs, and speech and usually results from the disorder of the cerebellum or its connections It is characterized by dyssynergia, dysmetria, dysdiadochokinesia (Joseph Babinski). It is a disorder of rate, range, direction and force of movements (Gordon Holmes).
- 5. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
- 6. Cerebellum hasbeen recognised as a distinct division of the brain since Herophilus (335-280 BC) and Galen (131-200 AD) Angevine et al., (1961) listed 24 different nomenclatures, terminology used by Larsell (1972) is used commonly at present. It has a volume of about 144 cm3 and weighs 150g (~10% of brain weight), but its surface area is about 40% that of the cerebellar cortex.
- 7. Dorsal view ofthe cerebellum
- 8. Cerebellar function/Ataxia • Vestibulocerebellum(flocculonodular lobe)- Balance, reflexive head/eye movements • Spinocerebellum (vermis, paravermis)- Posture and limb movements • Cerebrocerebellum - Movement planning and motor learning
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- 10. Vestibulocerellum – (Archicerebellum) •Abnormal gate Abasia - wide based, lurching, staggering Alcohol impairs cerebellum • Titubations – Trunk/head tremor - Vermis lesions • Tandem gait Fall or deviate toward lesion - Hemisphere lesions
- 11. Vestibulocerellum – (Archicerebellum) •Ocular dysmetria – Saccades over/undershoot target – Jerky saccadic movements during smooth pursuit • Nystagmus with peripheral gaze – Slow toward primary, fast toward target – Horizontal or vertical – May change direction – Does not extinguish with fixation • Impaired suppression of VOR
- 12. Spinocerebellum - Paleocerebellum •Dysmetria – Over/undershoot, past-pointing • Dysrhythmia/Asynergia – Decomposition of complex movements • Dysdiadochokinesis – Impaired rate/regularity of alternating movements • Tremor – Intention/action- during movement toward target • Impaired check/excessive rebound
- 13. Cerebrocerebellum - Neocerebellum •Speech -Articulation and prosody – Scanning or explosive Irregular fluctuations rate and volume - Dysarthria Slurred Speech – extreme = mutism • Limb ataxia • Hypotonia • Intention tremor • Cognitive affective syndrome
- 14. Development of cerebellum Vestibular proprioceptors provide information about the movement of head and its position. Having no limbs, primitive animals have only the flocculonodular lobe which coordinates the axial muscles that position the eyes, head and trunk All higher animals having limbs have the anterior lobe to coordinate proprioceptive input from limbs and trunk. Emergence of vertical bipedal from the quadripedal posture places particular demands on gait coordination The third and newest cerebral lobe (posterior lobe) expands in equal measure with the cerebrum, motor cortex, pyramidal tract, basis pontis and inferior olivary nuclei
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- 20. Generalizations about Cerebellardiseases Lesions Manifestations Lateralized Ipsilateral signs and symptoms Generalised Bilateral symmetrical symtomatology Acute Severe abnormalities at onset, remarkable recovery with time Chronic Gradual progressive decline Vestibulo cerebellar Disequilibrium and an ataxic gait Vermis Truncal and gait ataxia Cerebellar hemispheres Appendicular ataxia
- 21. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
- 22. Differentiation of sensoryand cerebellar ataxia Sensory ataxia is due to severe sensory neuropathy, ganglinopathy or lesions of the posterior column of the spinal cord. e.g. Sjogren’s syndrome, cisplatin, CCNU, Para-neoplastic disorders, SACD, Tabes dorsalis. Cerebellar ataxia Sensory ataxia Scanning speech Normal speech Nystagmus and other ocular signs Absent Sensory exam normal, Romberg test negative Sensory loss, Romberg’s test positive Pendular reflexes Hypo to areflexia Reeling, ataxic gait Stamping gait
- 23. Differentiation of vestibularand cerebellar ataxia Vestibular ataxia is due to lesion of vestibular pathways resulting in impairment & imbalance of vestibular inputs. e.g. vestibular, neuronitis, streptomycin toxicity. Cerebellar ataxia Vestibular disorders Sense of imbalance Vertigo and associated tinnitus and hearing loss Past pointing is in the ipsilateral limb and in the direction of the lesion Present in both the limbs and in the direction of the lesion Gaze evoked nystagmus Direction of the nystagmus in away from the lesion Scanning speech, intention tremors, dysdiadochokinesia, rebound phenomena, hypotonia and pendular reflexes Absent
- 24. Differentiation between cerebellar andfrontal lobe disorder Frontal lobe ataxia (Brun’s ataxia) is due to involvement of subcortical small vessels, Binswanger’s disease, multi infarct state or NPH. Cerebellar Frontal Lobes Base of support Wide based Wide based Velocity Variable Very slow Stride Irregular, lurching Short, shuffling Heal to shin Abnormal Normal Initiation Normal Hesitant Turns Unsteady Hesitant, Multistep Postural instability * **** Falls Late events Frequent
- 25. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
- 27. Classification & causes Acute (<72 hours duration, previously well ) Episodic (recurrent ataxia) Chronic Post infectious* Toxins* Tumours* Trauma Metabolic Infections Vascular (Stroke) Immune inc ADEM Conversion disorder Toxin ingestion Basilar artery migraine Seizure disorder Metabolic Brain tumours Hydrocephalus Metabolic Nutritional Congenital malformations Hereditary ataxias *Most common causes
- 28. Individual with progressive ataxia NegativeFHAutosomal recessive or uncertain inheritance Autosomal dominant inheritance Exclude secondary causes >25 years old <25 years old ARCAs, X-linked and mitochondrial inherited Consider ADCAs Test for: FRDA (GAA); AT (α-fetoprotein); AVED (vit. E level); Refsum’s (phytanic acid); Wilson’s Harding’s classification Negative ADCA I (ataxia + CNS signs) SCA 1, 2, 3, 4, 8, 12, 17, and FGF 14 ADCA II (cerebellar syndrome + pigmentary maculopathy) SCA 7 ADCA III (“pure” cerebellar syndrome) SCA 5, 6, 10, 11, 14, 15, and 22 Test for other recessive ataxias
- 29. Objectives Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
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- 31. Diagnosis of hereditaryataxia Insidious onset, symmetrical, and progressive Age at onset Early onset ataxia (age at onset below 25 years) is more likely to be consistent with autosomal recessive inheritance Exceptions Friedreich’s ataxia, Tay Sachs disease Late onset ataxia (age at onset over 25 years) is usual for those ataxias with dominant inheritance. Exceptions, SCA7, DRPLA, EA-1, EA-2 Family history: - Direct questioning of patient and relatives. - H/o consanguinity - Pedigree charting - Negative family history does not exclude the diagnosis
- 32. Causes Of negativeF/H May be seen in - Adoption - Genetic non paternity - Anticipation - De novo mutation - Small family size - In X-linked inheritance only males are affected. - In mitochondrial disorders matrilineal mode of inheritance may be apparent although penetrance is variable
- 33. Freidrich Ataxia • AR •Most common hereditary ataxia – 1:50,000 Caucasian • Frataxin gene – 9q13 – trinculeotide repeat • Affects brain, heart, pancreas. Slow onset and progressive. • Onset before age 25 (often by age 5), ataxia of all 4 limbs, cerebellar dysarthria, absence of LE reflexes, pyramidal signs (weakness, extensor planters), optic atrophy, brainstem
- 34. Clinical features ofFriedreich’s Ataxia Autosomal recessive inheritance Onset before 25 years Progressive limb and gait ataxia Absent DTR in legs Electrophysiological evidence of axonal sensory neuropathy Dysarthria* Areflexia in all four limbs* Early loss of position/vibration without pain/temperature loss* Extensor plantar responses* Pyramidal weakness of the legs* *Develop within 5 years of onset of disease
- 35. Freidrich Ataxia • Involvement(swallowing dysfunction), • Sensineuronal hearing loss • Cardiomyopathy – 66% of patients – hypertrophic – main cause of death is arrhythmia and heart failure • Diabetes mellitus – 33% of patients
- 36. Autosomal dominant ataxias Heterogenous group of disorders with onset after 25 years 25 different genetic loci have been identified (SCA1 to SCA2) Have diverse associated neurological features (retinopathy, optic atrophy, extra pyramidal or pyramidal signs, peripheral neuropathy, cognitive impairment, or epilepsy) Most common forms-SCA1, SCA2 and SCA.
- 37. Bedside differentiation ofSCAs Large study n=526 patients (17 centres) with SCA 1,2, 3 or 6: - Pyramidal signs (67%) and brainstem oculomotor sign (74%) were most frequent in SCA 1 - PN involvement was most frequent in SCA 2 (68%) - 24% of patients with SCA3 had dystonia A decrease in visual (83%) and auditory (24%) acuity was the predominant sign in SCA7 No clinician can accurately distinguish between different polyglutamine expansion SCAs; but this form of SCA can be distinguished from other SCA types David G, et al., Human Med Genet 1998; 7: 165-70 Maschke M, et al., Mov Disord 2005; 20: 1405-12 Schmitz-Hubsch T, et al., Neurology 2008; 71: 982-9
- 38. Clues to theSCAs Clinical Features Genetic Forms Age at onset Young adult: SCA 1, 2, 3, 21 Older adult: SCA 6 Childhood onset: SCA 7, 13, DRPLA Upper motor neuron SCA 1, 3, 7, 12 signs Some in SCA 6, 8 Rare in SCA 2 Slow saccades Early, prominent: SCA 2, 7, 12 Late: SCA 1, 3 Rare: SCA 6 Extra-pyramidal signs Early chorea: DRPLA Akinetic-rigid, Parkinson: SCA 2, 3, 21 Generalized areflexia SCA 2, 4, 19, 21 Late: SCA 3 Rare: SCA 1 Visual loss SCA 7 Dementia Prominent: SCA 17, DRPLA Early: SCA 2, 7 Otherwise: rare Myoclonus SCA 2, 14 Tremor SCA 12, 16, 19 Seizures SCA 10
- 39. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
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- 41. Acute Cerebellar Ataxia •Age 2-5 year • Preceded by febrile illness – 4 days to 3 weeks • Symptoms – acute, maximal at onset – gait disturbance is most common, can also have motor symptoms/fine tremor, dysarthria, 50% have nystagmus – Some with vomiting and headache in older children – Should NOT have fever, meningismus, seizure, AMS, focal neurologic signs, insidious onset
- 42. Acute Cerebellar Ataxia •Differential Diagnoses – • Toxic/metabolic, • Infectious—meningitis, encephalitis, ADEM, labrynthitis, • Structural, • Metabolic, • Neurodegenerative, • Episodic ataxic syndrome.
- 43. Acute Cerebellar Ataxia •Work-up: CSF if fever, meningitic signs, AMS; imaging if trauma, ICP signs, posterior fossa signs, asymmetric focal findings, ADEM • Usually resolves within 2-3 weeks; if worsening or relapse than reconsider diagnosis • Treatment – sometimes steroids, IVIG in severe/refractory cases • 10% will have some long-term effects, but most recover completely – older age and EBV associated with worse prognosis.
- 44. Ataxia-telangectasia • AR; ATMgene; 11q22.3 • 1:20-100,000 • ATM gene involved in detecting DNA damage, plays role in cell cycle progression • Neurologic effects – Progressive cerebellar ataxia (earliest feature; children usual begin walking, then have problems with fluid walking); articulation problems – abnormal eye movements – oculmotor apraxia is earliest – Can also have dystonia, chorea, peripheral axonal neuropathy
- 45. Ataxia-telangectasia • Oculocutaneous telangectasias– oculobulbar, nose, face, ear, neck. Appear age 3-5 yo. Also can have cafe-au-lait macules. • Immune deficiency – recurrent sinopulmonary infections • Pulmonary disease – major cause of death – recurrent infections, interstitial lung disease, neuromuscular abnormalities (dysphagia, aspiration, respiratory muscle weakness) • Malignancy – 10-20% will develop cancer.
- 46. Opsoclonus-Myoclonus-Ataxia Syndrome • Dancing eyes– dancing feet • Mean age – 2 yr. • Opsoclonus – uncontrolled, frequent, conjugate, saccidic movement of eyes in all directions. • irritability, sleep problems • Auto-immune: Paraneoplastic – neuroblastoma (unknown Ab); parainfectious
- 47. Opsoclonus-Myoclonus-Ataxia Syndrome • Differential:other causes of myoclonus, ataxia; toxic/metabolic dz, structural • Work-up – Look for neuroblastoma – CAP MRI, VMA/HVA, MIBG scan. If no neuroblastoma, then MRI brain to look for structural, toxic/metabolic, med review, infections – viral (hep C, Lyme, EBV, HIV, coxsackie, rota, mycoplasma, GAS). • Tx - Treat movements with immunosuppression- steroids, IVIG, rituximab.
- 48. Classification of acquiredcerebellar ataxias Ataxias due to toxic reasons Alcoholic cerebellar degeneration (ACD) Ataxias due to other toxic reasons Immune-mediated ataxias Paraneoplastic cerebellar degeneration (PCD) Other immune-mediated ataxias Ataxias due to vitamin deficiency Ataxias due to other rare causes
- 49. Symmetrical acquired ataxias Acute - Drugs: phenytoin, phenobarbitone, lithium, Chemotherapeutic agents - Alcohol - Infectious: Acute viral cerebellitis, Post-infectious - Toxins: Toulene, glue, gasoline, methyl mercury Subacute - Alcohol, or Nutritional (B1, B12) - Paraneoplastic - Antigliadin or anti GAD antibody - Prion diseases Chronic - MSA-C - Hypothyroidism - Phenytoin toxicity
- 50. Asymmetrical acquired ataxias Acute - Vascular: Cerebellar infarction or hemorrhage, Subdural Haemotoma - Infectious: Abscess Subacute - Neoplastic : Glioma, metastates, lymphoma - Demyelination : MS - HIV related : Progressive multi-focal leuco-encephalopathy Chronic - Congenital lesions: Arnold Chiari malformation, Dandy Walker syndrome
- 51. Tumors that produceataxia Medulloblastoma Astrocytoma Ependymoma Hemangioblastoma Metastatic tumor Meningioma Cerebellopontine angle tumour: schwannoma
- 52. Sporadic ataxia Allacquired causes have been ruled out and there is no family history A genetic explanation for “sporadic” ataxia is obtained in 4- 22% SCA6 is the most common dominant mutation detected in between 6% and 13% of patients The frequency of the Freiedreich’s GAA expansion among cases of adult-onset is between 4 and 8%.
- 53. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
- 54. Treatment Identify treatablecauses of ataxia No proven therapy for SCAs Some patients with parameoplastic cerebellar syndrome improve following removal of tumour and immunotherapy Preliminary evidence suggests that idebenone, a free radical scavenger improves myocardial hypertrophy Genetic counselling can reduce risk in future generations
- 55. Treatable causes ofataxia Hypothyroidism AVED Vitamin B12 deficiency Wilson’s Disease Ataxia with anti-gliadin antibodies and gluten senstive enteropathy Ataxia due to malabsorption syndromes Lyme’s disease Mitochondrial encephalomyopathies, aminoacidopathies, Leukodystrophies and urea cycle abnormalities
- 56. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
- 57. Conclusion Thorough historyand examination is required Age at onset and family history are most important Hereditary ataixas can be divided into early onset (<25 years) or late onset (> 25 years) Early onset ataxias are usually recessive, while late onset ataxias are usually dominant Friedreich’s ataxia is the most common recessive disorder while SCA2 is the most common dominant disorder. Contd…
- 58. No single physicalsign is specific for a single disorder Investigations should be performed in a logical order Treatable causes should be excluded Conclusion contd…
- 59. Objectives Definition Anatomy and Physiology Isit Cerebellar Ataxia Classification Hereditary Ataxias Acquired Ataxias Treatment Conclusion MCQs
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- 61. 1. A horizontalgaze evoked nystagmus in which the direction of the fast phase reverses with sustained lateral gaze or beats transiently in the opposite direction when the eyes return to primary position is called A. Periodic alternating nystagmus B. Seesaw nystagmus C. Rebound nystagmus D. Dysconjugate nystagmus
- 62. 1. A horizontalgaze evoked nystagmus in which the direction of the fast phase reverses with sustained lateral gaze or beats transiently in the opposite direction when the eyes return to primary position is called A. Periodic alternating nystagmus B. Seesaw nystagmus C. Rebound nystagmus D. Dysconjugate nystagmus
- 63. 2. The typicalsigns of cerebellar herniation include the following EXCEPT A. Stiff neck B. Alteration of consciousness C. Ptosis and pupillary abnormality D. Cardiac and respiratory abnormalities
- 64. 2. The typicalsigns of cerebellar herniation include the following EXCEPT A. Stiff neck B. Alteration of consciousness C. Ptosis and pupillary abnormality D. Cardiac and respiratory abnormalities
- 65. 3. Romberg’s signis positive in which type of lesion : A. Cerebellar B. Posterior column C. Hysterical D. Vestibular
- 66. 3. Romberg’s signis positive in which type of lesion : A. Cerebellar B. Posterior column C. Hysterical D. Vestibular
- 67. 4. Harding’s classificationof cerebellar ataxia is based upon : A. Mode of inheritance B. Site of involvement C. Chromosomal abnormality D. Metabolic abnormality
- 68. 4. Harding’s classificationof cerebellar ataxia is based upon : A. Mode of inheritance B. Site of involvement C. Chromosomal abnormality D. Metabolic abnormality
- 69. 5. Which statementis not true of Friedreich’s ataxia? A. Recessive inheritance B.Dysarthria C. Flexor plantar response D. Absent ankle jerk
- 70. 5. Which statementis not true of Friedreich’s ataxia? A. Recessive inheritance B.Dysarthria C. Flexor plantar response D. Absent ankle jerk
- 71. 6. Alcoholic cerebellardegeneration is characterized by : A. Gaze evoked nystagmus B. Limb ataxia C. Gait ataxia D. Action myoclonus
- 72. 6. Alcoholic cerebellardegeneration is characterized by : A. Gaze evoked nystagmus B. Limb ataxia C. Gait ataxia D. Action myoclonus
- 73. 7. Cerebellar ataxiacan result from intoxication with : A. Lead B. Mercury C. Manganese D. Gold
- 74. 7. Cerebellar ataxiacan result from intoxication with : A. Lead B. Mercury C. Manganese D. Gold
- 75. 8. Wadia’s typeof spinocerebellar degeneration is characterized by A. Limitation of downgaze B. Limitation of upgaze C. Slowing of saccadic movements D. Broken smooth pursuit
- 76. 8. Wadia’s typeof spinocerebellar degeneration is characterized by A. Limitation of downgaze B. Limitation of upgaze C. Slowing of saccadic movements D. Broken smooth pursuit
- 77. 9. Which ofthe following spinocerebellar ataxias (SCAs) has a similar ion channel, genetic and chromosomal abnormality as familial hemiplegic migraine A. SCA type 2 B. SCA type 4 C. SCA type 6 D. SCA type 8
- 78. 9. Which ofthe following spinocerebellar ataxias (SCAs) has a similar ion channel, genetic and chromosomal abnormality as familial hemiplegic migraine A. SCA type 2 B. SCA type 4 C. SCA type 6 D. SCA type 8
- 79. 10. A combinationof ipsilateral oculomotor palsy and ipsilateral cerebellar ataxia is seen in which of the brainstem syndromes A. Claude B. Nothnagel C. Weber D. Benedikt
- 80. 10. A combinationof ipsilateral oculomotor palsy and ipsilateral cerebellar ataxia is seen in which of the brainstem syndromes A. Claude B. Nothnagel C. Weber D. Benedikt
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