DISCUSS APPROACH IN PATIENTS WITH

ATAXIC DISORDERS

SPEAKER: Dr. Yashwanth.A.LMODERATOR: Dr. B.N.Raghavendra

Prasad

• INTRODUCTION• CLASSIFICATION• TYPES• APPROACH• DISCUSSION

INTRODUCTION

• Ataxia is derived from greek word ‘a’ - not ‘taxis’ - orderly ( not orderly/ not in order )

• The term ataxia is used by clinicians to denote a syndrome of imbalance and incoordination involving gait and limbs, as well as speech; it usually connotes a disorder involving the cerebellum or its connections

DEFINING ATAXIA

• Ataxia is a symptom, not a specific disease or diagnosis.

• Ataxia means poor coordination of movement.

• The term ataxia is most often used to describe walking that is uncoordinated and unsteady. Ataxia can affect coordination of fingers, hands, arms, speech (dysarthria) and eye movements (nystagmus).

• Ataxia can also result from disturbances of sensory input to the cerebellum, especially proprioceptive input and also involvement of vestibular system.

• The clinical approach to patients with ataxia involves differentiating ataxia from other sources of imbalance and inco-ordination, distinguishing cerebellar from sensory ataxia, and designing an evaluation based on knowledge regarding various causes of ataxia and cerebellar disorders.

Why proper approach in a patient with

ataxia is necessary ??

• Acute cerebellar lesions often produce severe abnormalities early but may show remarkable recovery with time & some of the ataxias are reversible.

• Chronic progressive diseases of the cerebellum tend to cause a gradually declining balance with longer lasting effects. To some extent, signs and symptoms have a relation to the location of the lesions in the cerebellum.

• Generalized cerebellar lesions give rise to symmetrical symptomatology.

MECHANISM OF DEVELOPING ATAXIA

• ANATOMY OF CEREBELLUM - LOBES - AFFERENTS - EFFERENTS - FUNCTIONS

1. HEMISPHERES - Appendicular coordination

2. VERMIS - Gait & other axial functions

3. FLOCCULO- NODULAR/ VESTIBULO CEREBELLUM - Eye movements & gross balance & gross orientation like up and down.

• The inferior cerebellar peduncle contains many fiber systems from the spinal cord (including fibers from the dorsal spinocerebellar tracts and cuneocerebellar tract and lower brain stem (including the olivocerebellar fibers from the inferior olivary nuclei, which give rise to the climbing fibers within the cerebellar cortex).

• The inferior cerebellar peduncle also contains inputs from the vestibular nuclei and nerve and efferents to the vestibular nuclei.

• The middle cerebellar peduncle consists of fibers from the contralateral pontine nuclei. These nuclei receive input from many areas of the cerebral cortex.

• The superior cerebellar peduncle, composed mostly of efferent fibers, contains axons that send impulses to both the thalamus and spinal cord, with relays in the red nuclei. Afferent fibers from the ventral spinocerebellar tract also enter the cerebellum via this peduncle.

• ARCHICEREBELLUM/ FLOCCULO NODULAR/ VESTIBULO CERELLUM

- Eye movements, gross balance and orientation - Inferior cerebellar pudencle• PALLEOCEREBELLUM/ SPINOCEREBELLUM/ VERMIS

& PAR VERMIAN REGION - Posture, Muscle tone, Axial muscle control,

Locomotion - Inferior/ middle/ superior pudencle• NEOCEREBELLUM/ CELEBELLAR HEMISPHERES/

PONTO CEREBELLUM - Coordinating movements, Fine motor control - middle/ superior pudencle

TYPES OF ATAXIA

1. CEREBELLAR2. SENSORY3. VESTIBULAR4. FRONTAL LOBE ATAXIA5. MIXED6. PSYCHOGENIC7. PSEUDO ATAXIA8. MISCELLANEOUS

Cerebellar Ataxia

Ataxic gait and position: Left cerebellar tumor

a. Sways to the right in standing position

b. Steady on the right leg

c. Unsteady on the left leg

d. ataxic gait

a b c

d

• SENSORY- Sensory disturbances can also on occasion simulate the imbalance of cerebellar disease; with sensory ataxia, imbalance dramatically worsens when visual input is removed (Romberg sign).

• VESTIBULAR – ataxia associated with vestibular nerve or labyrinthine disease results in a disorder of gait associated with a significant degree of dizziness, light-headedness, or the perception of movement

• PSEUDO ATAXIA- Mild Pyramidal weakness & Extrapyramidal disorders, weakness of proximal leg muscles mimics cerebellar disease

• PSYCHOGENIC – Extremely anxious patients

CLASSIFICATION

• BASED ON ONSET AND PROGRESSION - ACUTE - SUB ACUTE - CHRONIC

• BASED ON SITE OF PRESENTATION - UNILATERAL - BILATERAL - LIMB ATAXIA - TRUNCAL ATAXIA

MISCELLANEOUS

• WING- BEATING ATAXIA/ RUBRAL ATAXIA - Involvement of rubro- cerebello- thalamo tract

and red nucleus - seen in 1. MS 2. Wilsons 3. Midbrain stroke

• THALAMIC ATAXIA - An unusual and transient ataxia of the

contralateral limbs occurs acutely after infarction or hemorrhage in the anterior thalamus

MISCELLANEOUS

• Vertiginous ataxia is primarily an ataxia of gait and is distinguished by the obvious complaint of vertigo and listing to one side, past pointing, and rotary nystagmus.

• The nonvertiginous ataxia of gait caused by vestibular paresis (e.g., streptomycin toxicity).

• Vertigo and cerebellar ataxia may be concurrent, as in some patients with a paraneoplastic disease and in those with infarction of the lateral medulla and inferior cerebellum.

APPROACH

CASE

HISTORY

• 40 year old female, right handed individual, school teacher by occupation from kGF came with complaints of

CASE

CHIEF COMPLAINTS

• SWAYING forwards and sideways while getting up from supine posture – 2 yrs

CASE

HOPI• Apparently normal 2 yrs ago• She noticed swaying forwards and side ways while

getting up from supine posture and while walking in narrow passages. gradual onset, slowly progressive

• She started appreciating worsening of swaying whenever she stood in attention posture with hands held behind during morning school prayer hours.

• Clumpsiness of hands present in the form of illegible handwriting but not small in size.

CASE

• No involuntary movements like tremors.• She is able to sit up and stand without support.• No change in speech• She did not complain of tightness or loosening

of limbs• No h/o dizziness/light headedness/or

perception of movement.• No h/o tinnitus

CASE

• no h/o back pain or radiating pain• No difficulty in walking /gripping slippers• No difficulty in mixing food /reaching out

objects• Able to differentiate hot /cold water• Able to feel the floor• Washbasin sign - negative

CASE

• No h/o altered sensorium,• no h/o disorientation.• she was able to precieve the smell normally• she was able to read the news paper• no h/o double vision• No h/o reduced sensations over face and she

was able to chew the food.

CASE

• she was able to close the eyes and no h/o deviation of ankle of mouth or drooling of saliva.

• No h/o hard of hearing,no vertigo• No h/o dysphagia,nasal regurgitation• No h/o dysarthria

CASE

• she was able to feel the sensation of the bladder,initiate and control micturiation,completely evacuate the bladder.

• No h/o bowel incontinence,constipation.• No h/o any altered sweating pattern .

CASE

• No h/o fever, headace,seizures• No h/o loss of appetite / weight loss• No h/o skin rashes• No h/o trauma• No h/o any drug intake/exposure to toxins• No h/o recent vaccination

Swaying gait

How to utilize history in localization?

Approach to Ataxia

Ataxia

Unilateral/Focal

AcuteSub-acute chronic

symmetrical

• . Acute unilateral/focal ataxia

Vascular Infection Demyelination

How to approach a patient with sub-

acute unilateral/focal ataxia

Sub-acute unilateral ataxia

Sub-acute unilateral ataxia

Neoplastic Demyelination Infection

AIDS related

How to approach a patient with chronic

unilateral/focal ataxia

chronic unilateral/focal ataxia

Chronic unilateral ataxia

Stable gliosis congenital

How will you approach a patient with chronic symmetrical ataxia?

Chronic symmetrical ataxia

Inherited

Phenytoin

Para-neoplastic

Anti-gliadin antibody

hypothyroidism

Tabes dorsalis

How will you approach a patient with

symmetrical sub-acute ataxia

Sub-acute symmetrical ataxia

Sub-acute symmetrical

ataxia

Drugs & Toxins Alcohol & nutritional Lyme disease

How will you approach a patient with acute symmetrical ataxia

Acute symmetrical ataxia

Acute symmetrical

ataxia

Intoxications Acute viral cerebellitis

Post-infectious syndrome

Acquired Vs genetic causes of ataxia

Ataxias based on age of onset

Ataxia due to drugs and toxins

What to remember during history?

Drugs

• Anti-epileptics Phenytion, carbamazepine, Barbiturates,gabapentin, topiramate• Chemotherapeutic agents 5-FU, cisplatin, paclitaxel, Cyclosporin,methotrexate• Anti-psychotics lithum• cardiac amiodarone• Antibiotics metronidazole

Toxin induced ataxia

• Cocaine and heroin• Metals: mercury, lead• Toluene and benzene derivatives: glue,paint• Shell fish• Eucalyptus oil • Insecticides: chlordecone,phosphine,carbondi- sulphide( cellophane

manufacture)

What are the features of late onset inherited cerebellar ataxias?

SYSTEMIC FEATURES WITH ATAXIA

Machado-Joseph Disease/Sca3• MJD was first described among the Portuguese and their descendants in New England

and California. Subsequently, MJD has been found in families from Portugal, Australia, Brazil, Canada, China, England, France, India, Israel, Italy, Japan, Spain, Taiwan, and the United States. In most populations, it is the most common autosomal dominant ataxia.

Symptoms and SignsMJD has been classified into three clinical types. In type I MJD (amyotrophic lateral sclerosis–parkinsonism–dystonia type), - neurologic-deficits appear in the first two decades and - involve weakness and spasticity of extremities, especially the legs, often with dystonia of

the face, neck, trunk, and extremities. - Patellar and ankle clonus are common, as are extensor plantar responses. The gait is slow

and stiff, with a slightly broadened base and lurching from side to side; this gait results from spasticity, not true ataxia.

- There is no truncal titubation. Pharyngeal weakness and spasticity cause difficulty with speech and swallowing.

- Of note is the prominence of horizontal and vertical nystagmus, loss of fast saccadic eye movements, hypermetric and hypometric saccades, and impairment of upward vertical gaze.

- Facial fasciculations, facial myokymia, lingual fasciculations without atrophy, ophthalmoparesis, and ocular prominence are common early manifestations.

• In type II MJD (ataxic type)

- true cerebellar deficits of dysarthria and gait and extremity ataxia begin in the second to fourth decades along with corticospinal and extrapyramidal deficits of spasticity, rigidity, and dystonia.

- Type II is the most common form of MJD. Ophthalmoparesis, upward vertical gaze deficits, and facial and lingual fasciculations are also present.

- Type II MJD can be distinguished from the clinically similar disorders SCA1 and SCA2.

• Type III MJD (ataxic-amyotrophic type) - presents in the fifth to the seventh decades with a pancerebellar disorder

that includes dysarthria and gait and extremity ataxia. - Distal sensory loss involving pain, touch, vibration, and position senses and

distal atrophy are prominent, indicating the presence of peripheral neuropathy.

- The deep tendon reflexes are depressed to absent, and there are no corticospinal or extrapyramidal findings.

• The mean age of onset of symptoms in MJD is 25 years.

• Neurologic deficits invariably progress and lead to death from debilitation within 15 years of onset, especially in patients with types I and II disease.

• Usually, patients retain full intellectual function.

• The major pathologic findings are variable loss of neurons and glial replacement in the corpus striatum and severe loss of neurons in the pars compacta of the substantia nigra.

• A moderate loss of neurons occurs in the dentate nucleus of the cerebellum and in the red nucleus.

• Purkinje cell loss and granule cell loss occur in the cerebellar cortex. • Cell loss also occurs in the dentate nucleus and in the cranial nerve motor nuclei.

• Sparing of the inferior olives distinguishes MJD from other dominantly inherited ataxias.

Features of SCA-12

• Uncommon worldwide• Reported in European-American and Asian pedigrees• Onset 8-55 years. Presents with action tremor which

progress to head tremor• Later ataxia occurs along with hyperreflexia and

ocular abnormalities• Extra-pyramidal features are rare• Psychiatric symptoms reported • Features similar in India. Mean age of onset 39 yrs

Patterns of SCA in India

A Summary

SCA patterns in India

What are the classical features of early onset inherited ataxias

Friedreich’s ataxia….

FA:Inheritance and onset

• Most frequent of autosomal recessive ataxia’s• Onset in late childhood or adolescence

Tracts affected in Friedreich’s

FA: Clinical features

Severe ataxia

Areflexia and ↓proprioceptio

n

Musculoskeletal abnormalities cardiomyopathy

Atypical features of FA

• Reflexes may be preserved or hyperactive• Called FA with retained reflexes[FARR]• Kyphoscoliosis and heart disease less common

and prognosis is better• Late onset FA [LOFA]. Onset beyond 25 years.

Friedreich’s ataxia in India….

……does it differ in clinical features?

FA in India: 30 patients followed up for 2-10 years

• Similar neurologic features• Only 20% had ECG abnormalities • Cardiac enlargement and heart failure seen in

only one patient• Cardiac involvement less frequent in Indian

patients• FA is less common than dominant ataxia’s in

India [ ataxia registry 1997-2002].

FA in India: 30 patients followed up for 2-10 years

• Similar neurologic features• Only 20% had ECG abnormalities • Cardiac enlargement and heart failure seen in

only one patient• Cardiac involvement less frequent in Indian

patients• FA is less common than dominant ataxia’s in

India [ ataxia registry 1997-2002].

REFERENCES

1. HARRISONS 18th EDITION2. ADAM & VICTORS3. BRADLEY4. BRAIN’S5. DEJONG6. JOHN PATTEN