Ataxia, spinocerebellar ataxia, CNS case presentation by PG.
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Transcript of 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