Algorithm For Diagnosis Of Ataxia

BYKhaled Osama Abo-sha3era

Lecturer Of NeurologyAssiut University

Course 1- Non progressive or Congenital2- Intermittent3- Acute / Subacute4- Chronic or Progressive

Steps for thinking

Age at onset 1- Early onset (before 25 years)2- Late onset (after 25 years)

Cause 1- Acquired2- Inherited

a- Autosomal Recessiveb- Autosomal Dominantc- X-linked

3- Idiopathic

AcquiredAtaxic CP

Ponto-C. hypoplasia(+ microcephaly)

Vermis & C. hypoplasia(+ ∆)

Vermis hypoplasia(+ learning disability)

COACH(C. hypoplasia,

oligophrinia, ataxia, coloboma, hepatic fibrosis)

Disequilibrium Synd.(hypoTh., cataract)

Marineesco-Sjogren(PN, myopathy, cataract, short, hypogonadism, ∆)

Joubert(hypoTh., abno. eye

mov., irreg. breathing)

Paine(+ microcephaly,

myoclonus, optic a., ∆)

Gillespic(hypoTh., partial

aniredia, fixed dilated)

Post. Fossa Malformation Cerebellar Syndrome

Genetic

1- Non progressive or Congenital

I (+ AHC)

II (+ Dystonia)

Intermittent hydrocephalus

Transient ischemic attack

Basilar Migraine

Drugs/Toxins

Foramen Magnum CompressionMultiple Sclerosis

Epilepsy

Acquired Hereditary

2- Intermittent

Benign Paroxysmal Vertigo

Disorders of AA metabolism

Disorders of Pyruvate & Lactate

Intermittent Metabolic Ataxia Episodic Ataxia (EA)

Acquired Hereditary

2- Intermittent

I (+ Myokymia) (Kinesigenic)

II (+ Nystagmus) (Nonkinesigenic)

III (+ Vertigo, Tinnitus)

IV (+ Vertigo, Diplopia, Oscilliopsia)

V (+ Vertigo)

Pyrovate dehydrogenase def.Pyrovate carboxilase def.Biotidinase def.

Hartnup diseaseOrnithin transcarbamylase def.Arginase def.Arginosuccinase def.Arginosuccinase synthetase def.Isovaleric aciduriaNonketotic hyperglycinemiaIntermittent branched chain ketoaciduria

VI (+ Seizures)

3- Acute/Sub-acute

Child (1-4 year)

Acute Labyrinthitis (child with acute otitis media)

Ataxia aloneAcute Post-Infectious Cerebellar Ataxia (after varicella, coxsackie B, echoviruses, mumps, Epstein-Barr, and influenza A and B.)

Toxic Ingestion (anticonvulsants, lead, eucalyptus oil, insecticides )

Acute Cerebellitis (rotavirus, mycoplasma, and human herpes virus 6 )

Acute Disseminated Encephalomyelitis

Ataxia + ↑ ICT +Altered consciousness

Ataxia + Seizures +Altered consciousness

Ataxia + multifocal neurological deficits + Altered consciousness

Ataxia + vertigo + Nystagmus

Infant Opsoclonus Myoclonus Ataxia Syndrome (chaotic conjugate high-amplitude eye movements + myoclonus + ataxia, developmental regression + irritability)

˃ 5 year

Head trauma

3- Acute/Sub-acute

Concussion, Hemorrhage, Vertebral art. dissection

Unilateral Ataxia of abrupt onset

Stroke

Unilateral Ataxia of Subacute onset

Multiple sclerosis

Drugs/toxinsAEDs, BZD, Lithium, Isoniazide, Metronidazol, Amioderone, Cyclosporin, Cytotoxic drugs, Alcohol, Marjuana, Phenylcyclidine, Organic solvents, Carbon monoxide

Ataxia + Areflexia + ophthalmoplegia Miller Fisher

Unilateral Ataxia + ↑ICT

Cerebellar or Frontal mass (Abscess, AVM, Hemorrhage, Hemorrhage within a mass)

Heat strokeAtaxia + Fever

Other Hysterical

4- Chronic or Progressive

Hereditary IdiopathicSymptomatic

Others

Mass

Chronic Infection

Toxic

Nutritional Vit. E, Thiamin, Nicotinic acid def., Alcoholic

Creutzfeld Jakop, SSPE, Progressive Rubella panencephalitis

Medulloblastoma, Neurobalstoma, C. Astrocytoma, C. Hemangioblastoma, Ependymoma

Acrylamid, Lead, Mercury

Amyloidosis, Sarcoidosis, Whipple’s, Celiac’s, Sprue, Paraneuplastic

Endocrine Hypothyroidism, Hypoparathyroidism

4- Chronic or Progressive

Hereditary IdiopathicSymptomatic

Late OnsetEarly Onset

Other AR AtaxiasFriedreich’s Ataxia

Mitochondrial DNA Repair Defect

X-linked early onset Ataxia

Progressive Metabolic

Cranio-cervical malformation

Friedreich’s Ataxia (FA)

Celebellar Ataxia, Post. colomun, Pyramidal, PN ± Cardiomyopathy, optic atrophy, gaze fixation instability, DM, deafness, scoliosis, distal muscle atrophy

Early Onset

Ataxia with vit. E def. (AVED)

FA like + Head titubation + Retinitis pigmentosa ± Tremors, Dystonia ↓ Vit. E

Abetalipoproteinemia (ABL)

Refsum’sdisease (RD)

FA like + Steatorrhea + Retinitis pigmentosa + PN + Ext. ophthalmoplegia + Acanthocytosis + ↓ B-lipoprotien, Cholesterol, Vit. E

FA like + Retinitis pigmentosa + anosmia + PN + ± Deafness

Cerebro-tendinousxanthomatosis (CTX)

Ataxia + spastic paraparesis + Dementia + PN + Juvenile cataract + tendon xanthoma+ chronic diarrhoea ± Epilepsy.

Early Onset

Ataxia-telangiectasia (AT)

Early onset ataxia with retained reflexes + Telangectasia + Oculomotor apraxia ± choreo-athetosis, dystonia, AHD, large fiber neuropathy, Myoclonus, Immunodeficiency, hypersensitivity to ionizing radiation, Lymphoma, DM, hypogonadism

Ataxia with oculo-motor apraxia (AOA)

AR Ataxia of Charlevoix-Saguenay

Early onset ataxia with retained reflexes + Oculomotor apraxia + ocular saccadic impairment + Strabismus + head thrusting + chorea + Dystonia

Early onset ataxia with retained reflexes + Abnormal retinal myelination around blood vessels

Wilson disease + Tremors + Rigidity + Dystonia + Behavioral changes + Kaiser-Fleischer ring + Liver impairment

Early Onset

Aceruloplasminemia+ dementia + Dystonia + Chorea + DM ± Retinal degeneration

Metachromatic leukodystrophy

XlinkedAdreno-

leukodystrophy

+ Mental deterioration + PN + Optic Atrophy + Salt craving, Vomiting, Fatigue, hyper-pigmentation MRI: band like demyelination in occipital lobes and splenium

+ Mental deterioration + PN + Optic Atrophy

Krabbe disease + Mental deterioration + Weakness + Paresthesias of extremities

Niemann-Pick C + Dementia + Dystonia + Vertical gaze palsy + Splenomegally ± ∆, Epilepsy, Gelastic cataplexy

MILAS Migraine, Stroke, Dementia, Epilepsy, Myoclonus, PN, late-onset PEO ± Myopathy, Deafness, DM, Short stature

Early Onset

Kearns Sayre syndrome

Leigh syndrome

+ Chronic PEO + Pigmentary retinopathy, cardiac conduction defects ± Myopathy, Deafness, Dementia, Seizures, DM, Hypoparathyroidism

Developmental delay, Seizures, Optic atrophy, Retinitis pigmentosa, CPEO, lactic acidosis, hypotonia

NARP Neuropathy, Ataxia, Retinitis pigmentosa

MERFF+ Myoclonus, GTCC, myopathy, dementia, CPEO, deafness

May-White syndrome

Myoclonus, Ataxia, Deafness

4- Chronic or Progressive

Hereditary IdiopathicSymptomatic

Late OnsetEarly Onset

Late Onset Friedreich’s Ataxia

AD Cerebellar Ataxia

Fragile-X-associated tremor ataxia

syndrome

AD Cerebellar Ataxia

SCA type 1 + Nystagmus + Hypermetric saccades + ∆

+ Sensory ataxia + PN

+ Slowed saccadic eye movements + Hyporeflexia + PN SCA type 2

SCA type 3+ Nystagmus + Ophthalmoplegia ± ∆, Dystonia, Parkinsonism, PN, AHC, Facial fasciculations, "Bulging eyes“

SCA type 4

+ Visual loss SCA type 7

+ Epilepsy + PN SCA type 10

+ Mental retardation SCA type 13

+ Axial myoclonus SCA type 14

AD Cerebellar Ataxia

SCA type 17 + Dementia + Parkinsonism + Postural temor + Dyskinesias

+ Dementia + Parkinsonism

+ Postural tremor + Myoclonus SCA type 19

SCA type 21

+ Palatal tremor + Spasmodic dysphonia SCA type 20

+ Myoclonus + Sacadic intrusions + PN SCA type 24

+ Ptosis SCA type 28

+ Myoclonus + Chorea + Dementia DRPLA

+ Head tremor SCA type 16

Fragile-X-associated tremor ataxia syndrome (FXTAS)

+ Postural or intention tremor + Parkinsonism + autonomic dysfunction ± PN, dementia, ∆MRI: symmetric hyperintense lesions in the middle cerebellar peduncles visible on T2-weighted MRI

4- Chronic or Progressive

Hereditary IdiopathicSymptomatic

Gait & LL ataxia alone

+ Vertigo, PN

+ Severe postural & intentional tremors

+ Dementia, Dysphagia, Dysarthia, ∆

Dyssynergia Cellebellaris Progressiva

Dejerine Thomas

ILOCA with bilat. Vistibulopathy & Sensory neuropathy

Marie Faix Alajouanine

Idio

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+ Dementia, Parkinsonism, Autonomic, ∆ Multiple system atrophy (MSA)

Thank you