Ataxia, spinocerebellar ataxia, CNS case presentation by PG.

CNS CASE30/01/2011

Dr.vijay

HISTORY

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

Chief complaints

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

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.

• 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

• 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

• 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.

• 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

• 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 .

• 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 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)

Past history

• No h/o DM,HTN,BA• No similar history in the past• No h/o surgeries in the past .

Personal history

• Mixed diet• Sleep normal• Normal bowel and bladder habits• No addiction• No sexual promiscuity

Family history

• No similar history In the family• Born out of non consanguineous marriageShe is married ( non consanguinous) and has 1

daughter.No hereditary predisposition of any known

illness in the family.

Phenomemon of anticipation

??????

• Early onset of disease with increased severity in the subsequent generations

• Due to increase in triplet mutation• Eg 1) Huntingtons chorea 2) SCA

What are the features of late onset inherited cerebellar ataxias?

Clinical patterns in SCA 1-31!.........

Ataxia with dysarthria

Abnormal eye movements

Extra-pyramidal tract involvement Peripheral nerves

Pyramidal tract involvement

Basal ganglia

What are the clinically important SCA ?

SCA 1,2,3,6,12

Autosomal dominant ataxia

Autosomal recessive ataxia

What are the important causes of non-inherited progressive ataxias

• Multiple sclerosis• Anti-GAD antibodies• Celiac and gluten ataxia• Hypothyroidism• Hypopara-thyroidism• Infections• Paraneoplastic & Tumours• Vitamin B and E deficiency

Treatment history

• Nil

History summary

• 40 year old female with no comorbidities ,no habits presented with

Chronic symmetric gradually progressive ataxia with clumpsiness of r hand for 2 yrs with

no cranial nerve involvement/pyramidal weakness/sensory disturbance/autonomic involvement .

D.D

• Cerebellum - Paraneoplastic syndromes Hypothyroidism Drugs Tabes dorsalis Inherited ataxia

Para-neoplastic ataxia

Why ….What and How ?

Ataxic syndromes

Ataxic syndromes

GPE

• PATIENT CONSCIOUS AND ORIENTED• NO PALLOR,ICTERUS,CYANOSIS,CLUBBING• AFEBRILE• PR-90/MIN• BP-110/70MMHg in RT UL IN SUPINE

POSITION• RR-18/MIN• NO NEUROCUTANEOUS MARKERS

What are the skeletal defects in inherited ataxia’s ?

HMF

• MINI MENTAL SCORE-30/30• NO APHASIA,NO DYSARTHRIA• MEMMORY NORMAL

Systemic features associated with ataxia

Systhemic feautures with ataxia

CRANIAL NERVE RIGHT LEFTOLFACTORY.N NORMAL NORMAL

OPTIC.NVISUAL ACUITYFIELD OF VISIONCOLOUR VISIONFUNDUS

NORMAL NORMAL

OCCULOMOTOR.N/TROCHLEAR.N/ABDUCENT.N

SACCADES AND PERSUITSEOMPUPILREACTION TO LIGHT

NORMALNO PTOSIS

NO DIPLOPIAFULL,NO NYSTAGMUS3MM NORMAL

NORMALNO PTOSIS

NO DIPLOPIAFULL,NO NYSTAGMUS3MM NORMAL

TRIGEMINAL NSENSATIONS OVER FACECLENCHING TEETH,JAW MOVEMENTS

NORMAL NORMAL

FACIAL NTIGHT CLOSURE OF EYESFRONTAL FISSURESDEVIATION OF ANGLE OF MOUTHDROOLING OF SALIVANASOLABIAL FOLDHYPERACUSISLACRIMAL/NASAL/SALIVARY SECRETIONS

NORMAL NORMAL

VESTIBULO COCHLEAR.NRINNES TESTWEBER TESTABC TEST

AC >BC POSITIVENO LATERALISATIONNORMAL

AC >BC POSITIVENO LATERALISATIONNORMAL

GLOSSOPHARYNGEAL.N/ VAGUS .NUVULA POSITIONPALATAL ARCHGAG REFLEX

NORMAL NORMAL

ACCESSORY .NSHRUGGING SHOULDER AGAINST RESISTANCEFACE TURN SIDEWAYS AGAINST RESISTENCE

NORMAL NORMAL

HYPOGLOSSAL.NPROTRUDE TONGUE OUTAND SIDEWAYSATROPHY/FASCICULATION

NORMAL NORMAL

Mechanism of slow saccades

• Degeneration of burst neurons located near PPRF which are responsible for pre-saccadic discharge

MOTOR SYSTEM

• NUTRITION-NO OBVIOUS WASTING,B/L SYMMETRICAL

MEASURMENTS- RT (cm) LT (cm)• ARM 25 25• FOREARM 21 21• THIGH 40 40• LEG 31 31

TONE

• RT LT UL NORMAL NORMAL LL NORMAL NORMAL

Hypotonia

POWER

• RT LTSHOULDER-FLEXION 5/5 5/5 EXTENSION 5/5 5/5 ADD 5/5 5/5 ABD 5/5 5/5ELBOW -FLEXION 5/5 5/5 EXTENSION 5/5 5/5

RT LT• WRIST -DORSIFLEXION 5/5 5/5 PLANTARFLEXION 5/5 5/5 HAND GRIP GOOD GOOD BEVORS SIGN -NEGATIVE NECK - FLEXION GOOD EXTENSION GOOD

POWER

• RT LT HIP-FLEXION 5/5 5/5 EXTENSION 5/5 5/5 ABD 5/5 5/5 ADD 5/5 5/5 KNEE-FLESION 5/5 5/5 EXTENSION 5/5 5/5ANKLE-DORSIFLEXION 5/5 5/5 PLANTARFLEXION 5/5 5/5TOES STRONG STRONG

SUPERFICIAL REFLEXES

RT LTCORNEAL PRESENT PRESENTCONJUC PRESENT PRESENTABDOMINAL UPPER PRESENT PRESENT LOWER PRESENT PRESENT

PLANTAR FLEXOR FLEXOR

DEEP TENDON REFLEX

RT LT BICEPS EXAGGERATED B/L TRICEPS EXAGGERATED B/L SUPINATOR EXAGGERATED B/L KNEE EXAGGERATED B/L ANKLE EXAGERATED B/L

CO ORDINATION

• UL RT LT FINGER NOSE NORMAL IMPAIRED LL HEEL SHIN IMPAIRED IMPAIRED

GAIT NORMAL INVOLUNTORY MOVEMENTS NIL

SENSORY SYSTEM

FINE TOUCH PAIN TEMP B/L NORMAL JOINT POSITION VIBRATION

CEREBELLAR SIGNS

NO HYPOTONIA / REBOUND PHENOMENON NO DYSDIADOKINESIANO TREMORS/PAST POINTING/NYSTAGMUSTANDEM WALK – NORMALROMBERGS TEST – SWAYING + WITH EYES OPENNO SCANNING SPEECH

NO NECK RIGIDITYCRANIUM-NORMALSPINE-NO GIBBUS NO TENDERNESS NO KYPHOSIS/SCOLIOSISFOOT - NORMAL

• Pathways and functions of cerebellum

Explain the pathway and function of essential cerebellar tracts

Cerebellum….the comparator

Cerebellum[comparator]

Cerebral cortex[Commander]

Muscle and joints[actor]

Important cerebellar afferents

• From cerebral cortex: cortico-ponto cerebellar pathway [MCP]• From spinal cord: Anterior and posterior spinocerebellar

tract[SCP & ICP]• From vestibular nerve: fibres from vestibular nerve [ICP]

Important cerebellar efferents

• Dentatorubral (globose-emboliform-rubral)[SCP]

• Dentatothalamic [SCP]• Vestibular and reticular efferents

Cortico-ponto-cerebellar tract

Ventral Spinocerebellar tract

Note the double crossing of the tract

Dentate nucleus controls ipsilateral limb

Dorsal Spinocerebellar tract

Dentate nucleus controls ipsilateral limb

Dentato-thalamic tract

Dentato-thalamic crosses

Cortico-spinal tract crosses

Dentate nucleus controls ipsilateral limb

Dentato-rubral tract

Dentato-rubral crosses

Rubro-spinal tract crosses

Dentate nucleus controls ipsilateral limb

OTHER SYSTEMS

• RS NVBS• CVS S1 S2+NO MURMURS• ABD SOFT NON TENDER BS+

DIAGNOSIS

• Probably spinocerebellar ataxia – singleton case in the family

• Autosomal dominant type

Discussion

What are the important features of SCA-1?

Features of SCA-1

• Onset often after 20 years of age• Gait ataxia progressing to limb ataxia• Dysarthria and nystagmus occurs early• Recumbent 10-15 years after disease onset

Occasional Uncommon

Hyperreflexia & spasticity dementia

amyotrophy Peripheral neuropathy

Indian data on SCA-1

SCA-1 in India:Cummulative observation in 28 families

• Mean age of onset 28 yearsFeature percentage

ataxia 100%

Oculomotor dysfunction 60%

hyporeflexia 52%

hyperreflexia 38%

SCA-1 in Tamilnadu

• Data from 25 patients in 2 villages(rajapalayam & kottamedu) near vellore from a community with high prevalence of SCA-1 [Vanniya-kula-shathriar]

• First symptom was ataxia in 20(80%) and slurring of speech in 5 (20%)

• Pyramidal signs in 18(72%),ocular dysfunction 14(56%),sensory neuropathy in 7(28%) and cognitive dysfunction in 4(16%).

SCA-1 in Tamilnadu

• Data from 25 patients in 2 villages(rajapalayam & kottamedu) near vellore from a community with high prevalence of SCA-1 [Vanniya-kula-shathriar]

• First symptom was ataxia in 20(80%) and slurring of speech in 5 (20%)

• Pyramidal signs in 18(72%),ocular dysfunction 14(56%),sensory neuropathy in 7(28%) and cognitive dysfunction in 4(16%).

Important features of SCA-2

• Onset in 2nd to 4th decade as ataxia with dysarthria• Slow saccades- striking in SCA-2, later progresses to

opthalmoplegia• Sensory neuropathy- often asymptomatic• Occasionally- spasticity, parkinsonism,chorea,dystonia and

dementia

SCA-2 in India

SCA-2 in India:Cummulative data on 45 families

• Most common type in India• First clinical report in 1960 (Wadia & Swami)

Feature PercentageAtaxia 100%

slow saccades 94%

hyporeflexia 70%

Facial weakness 50%

amyotrophy 40%

Hyperreflexia,chorea,mental regression

< 15%

What are the important features of SCA-3?

Features of SCA-3 [Machado-Joseph disease]

• Ancestary originating in central Portugal• Gait ataxia , develops progressive supra-nuclear

opthalmoplegia in few years. • BULGING EYES: Lid retraction & infrequent blinking• In advanced stages: dysphagia,facial palsy,tongue

atrophy.• Younger onset demonstrate rigidity and dystonia

Features of SCA-3 [Machado-Joseph disease]

• Ancestary originating in central Portugal• Gait ataxia , develops progressive supra-nuclear

opthalmoplegia in few years. • BULGING EYES: Lid retraction & infrequent blinking• In advanced stages: dysphagia,facial palsy,tongue

atrophy.• Younger onset demonstrate rigidity and dystonia

Machado-Joseph disease

SCA-3 in India

SCA-3 in India

• Most frequent in Bengali families• Ataxia , dysarthria, bulging eyes,

opthalmoplegia : Frequent• Pyramidal signs,distal weakness,absent ankle

reflex and dystonia: common• Altered cognition : occasional

What are the important features of SCA-6?

Features of SCA-6

• Common worldwide. More in Japan & Germany• Milder phenotype compared to SCA-1,2,3• Onset 50 years(30-70 years). Oldest patient 84 years!• Ataxia, dysarthria, nystagmus and mild sensory

neuropathy• LESS COMMON IN INDIA

What are the important features of SCA-12?

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].

Thank you