A 40-year-old female presented with a 2-year history of gradually progressive symmetric ataxia and clumsiness of the right hand. On examination, she had exaggerated deep tendon reflexes and impaired finger-nose and heel-shin coordination bilaterally, with normal strength, sensation, and cranial nerves. Given the chronic, symmetric, progressive nature of her ataxia occurring in isolation, she is likely to have an inherited spinocerebellar ataxia such as SCA-1 or SCA-2, which are the most common causes in India. Further genetic testing would be needed for confirmation.

1. CNS CASE
30/01/2011
Dr.vijay

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

3. Chief complaints
• SWAYING forwards and sideways while
getting up from supine posture – 2 yrs

4. 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.

5. • 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

6. • 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

7. • 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.

8. • 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

9. • 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 .

10. • 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

11. Swaying gait
How to utilize history in localization?

12. Approach to Ataxia
Ataxia
Unilateral/Focal
Acute
Sub-acute chronic
symmetrical

13. • .
Acute unilateral/focal ataxia
Vascular Infection Demyelination

14. How to approach a patient with
sub-acute unilateral/focal ataxia

15. Sub-acute unilateral ataxia
Sub-acute
unilateral ataxia
Neoplastic Demyelination Infection
AIDS related

16. How to approach a patient with
chronic unilateral/focal ataxia

17. Chronic unilateral
ataxia
Stable gliosis congenital

18. How will you approach a patient
with chronic symmetrical ataxia?

19. Chronic symmetrical ataxia
Inherited
Phenytoin
Para-neoplastic
Anti-gliadin
antibody
hypothyroidism
Tabes
dorsalis

20. How will you approach a patient
with symmetrical sub-acute ataxia

21. Sub-acute symmetrical ataxia
Sub-acute
symmetrical
ataxia
Drugs & Toxins
Alcohol &
nutritional
Lyme disease

22. How will you approach a patient
with acute symmetrical ataxia

23. Acute symmetrical ataxia
Acute
symmetrical
ataxia
Intoxications
Acute viral
cerebellitis
Post-infectious
syndrome

24. Acquired Vs genetic causes of
ataxia

26. Ataxias based on age of onset

30. Ataxia due to drugs and toxins
What to remember during history?

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

32. 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)

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

34. Personal history
• Mixed diet
• Sleep normal
• Normal bowel and bladder habits
• No addiction
• No sexual promiscuity

35. Family history
• No similar history In the family
• Born out of non consanguineous marriage
She is married ( non consanguinous) and has 1
daughter.
No hereditary predisposition of any known
illness in the family.

36. Phenomemon of anticipation
??????

37. • Early onset of disease with increased severity
in the subsequent generations
• Due to increase in triplet mutation
• Eg 1) Huntingtons chorea
2) SCA

38. What are the features of late onset
inherited cerebellar ataxias?

39. Clinical patterns in SCA 1-31!.........
Ataxia with dysarthria
Abnormal eye movements
Extra-pyramidal
tract
involvement
Peripheral nerves
Pyramidal tract
involvement
Basal ganglia

40. What are the clinically important
SCA ?

41. SCA 1,2,3,6,12

42. Autosomal dominant ataxia

43. Autosomal recessive ataxia

44. What are the important causes of
non-inherited progressive ataxias

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

46. Treatment history
• Nil

47. 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 .

48. D.D
• Cerebellum - Paraneoplastic syndromes
Hypothyroidism
Drugs
Tabes dorsalis
Inherited ataxia

49. Para-neoplastic ataxia
Why ….What and How ?

52. Ataxic syndromes

53. Ataxic syndromes

54. 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

55. What are the skeletal defects in
inherited ataxia’s ?

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

57. Systemic features associated
with ataxia

58. Systhemic feautures with ataxia

59. CRANIAL NERVE RIGHT LEFT
OLFACTORY.N NORMAL NORMAL
OPTIC.N
VISUAL ACUITY
FIELD OF VISION
COLOUR VISION
FUNDUS
NORMAL NORMAL
OCCULOMOTOR.N/TROCHL
EAR.N/ABDUCENT.N
SACCADES AND PERSUITS
EOM
PUPIL
REACTION TO LIGHT
NORMAL
NO PTOSIS
NO DIPLOPIA
FULL,NO NYSTAGMUS
3MM
NORMAL
NORMAL
NO PTOSIS
NO DIPLOPIA
FULL,NO NYSTAGMUS
3MM
NORMAL

60. TRIGEMINAL N
SENSATIONS OVER FACE
CLENCHING TEETH,JAW
MOVEMENTS
NORMAL NORMAL
FACIAL N
TIGHT CLOSURE OF EYES
FRONTAL FISSURES
DEVIATION OF ANGLE OF
MOUTH
DROOLING OF SALIVA
NASOLABIAL FOLD
HYPERACUSIS
LACRIMAL/NASAL/SALIVAR
Y SECRETIONS
NORMAL NORMAL
VESTIBULO COCHLEAR.N
RINNES TEST
WEBER TEST
ABC TEST
AC >BC POSITIVE
NO LATERALISATION
NORMAL
AC >BC POSITIVE
NO LATERALISATION
NORMAL

61. GLOSSOPHARYNGEAL.N
/ VAGUS .N
UVULA POSITION
PALATAL ARCH
GAG REFLEX
NORMAL NORMAL
ACCESSORY .N
SHRUGGING SHOULDER
AGAINST RESISTANCE
FACE TURN SIDEWAYS
AGAINST RESISTENCE
NORMAL NORMAL
HYPOGLOSSAL.N
PROTRUDE TONGUE OUT
AND SIDEWAYS
ATROPHY/FASCICULATION
NORMAL NORMAL

62. Mechanism of slow saccades

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

64. 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

65. TONE
• RT LT
UL NORMAL NORMAL
LL NORMAL NORMAL

66. Hypotonia

67. POWER
• RT LT
SHOULDER-FLEXION 5/5 5/5
EXTENSION 5/5 5/5
ADD 5/5 5/5
ABD 5/5 5/5
ELBOW -FLEXION 5/5 5/5
EXTENSION 5/5 5/5

68. 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

69. 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 5/5
ANKLE-DORSIFLEXION 5/5 5/5
PLANTARFLEXION 5/5 5/5
TOES STRONG STRONG

70. SUPERFICIAL REFLEXES
RT LT
CORNEAL PRESENT PRESENT
CONJUC PRESENT PRESENT
ABDOMINAL UPPER PRESENT PRESENT
LOWER PRESENT PRESENT
PLANTAR FLEXOR FLEXOR

71. 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

72. CO ORDINATION
• UL RT LT
FINGER NOSE NORMAL IMPAIRED
LL
HEEL SHIN IMPAIRED IMPAIRED
GAIT NORMAL
INVOLUNTORY MOVEMENTS NIL

73. SENSORY SYSTEM
FINE TOUCH
PAIN
TEMP B/L NORMAL
JOINT POSITION
VIBRATION

74. CEREBELLAR SIGNS
NO HYPOTONIA / REBOUND PHENOMENON
NO DYSDIADOKINESIA
NO TREMORS/PAST POINTING/NYSTAGMUS
TANDEM WALK – NORMAL
ROMBERGS TEST – SWAYING + WITH EYES OPEN
NO SCANNING SPEECH
NO NECK RIGIDITY
CRANIUM-NORMAL
SPINE-NO GIBBUS
NO TENDERNESS
NO KYPHOSIS/SCOLIOSIS
FOOT - NORMAL

75. • Pathways and functions of cerebellum

76. Explain the pathway and function
of essential cerebellar tracts

77. Cerebellum….the comparator
Cerebellum
[comparator]
Cerebral cortex
[Commander]
Muscle and joints
[actor]

78. 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]

79. Important cerebellar efferents
• Dentatorubral (globose-emboliform-
rubral)[SCP]
• Dentatothalamic [SCP]
• Vestibular and reticular efferents

80. Cortico-ponto-cerebellar tract

81. Ventral Spinocerebellar tract
Note the
double
crossing of
the tract
Dentate nucleus
controls
ipsilateral limb

82. Dorsal Spinocerebellar tract
Dentate nucleus
controls
ipsilateral limb

83. Dentato-thalamic tract
Dentato-thalamic crosses
Cortico-spinal tract crosses
Dentate nucleus
controls
ipsilateral limb

84. Dentato-rubral tract
Dentato-rubral crosses
Rubro-spinal tract crosses
Dentate nucleus
controls
ipsilateral limb

85. OTHER SYSTEMS
• RS NVBS
• CVS S1 S2+NO MURMURS
• ABD SOFT NON TENDER BS+

86. DIAGNOSIS
• Probably spinocerebellar ataxia – singleton
case in the family
• Autosomal dominant type

87. Discussion

88. What are the important features
of SCA-1?

89. 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

90. Indian data on SCA-1

91. SCA-1 in India:Cummulative observation in 28
families
• Mean age of onset 28 years
Feature percentage
ataxia 100%
Oculomotor dysfunction 60%
hyporeflexia 52%
hyperreflexia 38%

92. 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%).

93. 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%).

94. 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

95. SCA-2 in India

96. SCA-2 in India:Cummulative data on 45 families
• Most common type in India
• First clinical report in 1960 (Wadia & Swami)
Feature Percentage
Ataxia 100%
slow saccades 94%
hyporeflexia 70%
Facial weakness 50%
amyotrophy 40%
Hyperreflexia,chorea,mental
regression
< 15%

97. What are the important features
of SCA-3?

98. 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

99. 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

100. Machado-Joseph disease

101. SCA-3 in India

102. 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

103. What are the important features
of SCA-6?

104. 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

105. What are the important features
of SCA-12?

106. 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

107. Patterns of SCA in India
A Summary

108. SCA patterns in India

109. What are the classical features
of early onset inherited ataxias
Friedreich’s ataxia….

110. FA:Inheritance and onset
• Most frequent of autosomal recessive ataxia’s
• Onset in late childhood or adolescence

111. Tracts affected in Friedreich’s

112. FA: Clinical features
Severe ataxia
Areflexia and
↓proprioception
Musculoskeletal
abnormalities
cardiomyopathy

113. 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.

114. Friedreich’s ataxia in India….
……does it differ in clinical features?

115. 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].

116. 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].

117. Thank you