1. An Uncommon Movement
Disorder
SMC -M5 unit
Prof. P. Vijayaraghavan’s unit

2. • Mr. Vembuli 56 yr old male presented with
complaints of
– Recurrent falls for the past 1 yr.
– Slowness in carrying out day to day activities -
2yr.
– Bouts of sudden uncontrollable cry - 3
months.
• History of present illness:
– Patient was apparently normal 2 years ago
until he developed gradual slowing of routine
day to day activities. Over the past 1 yr he had
recurrent falls. During the episodes he neither
looses his consciousness nor have any
involuntary movements.

3. – He frequently trips over any raised obstacles in his
path. Over the past 3 months he had bouts of
sudden unprovoked cry and mild slurring of
speech.
– h/o stiffness involving all 4 limbs for the past 1 yr.
No h/o weakness of limbs. However he needs a
walking stick for support for the past 6 months.
– No h/o involuntary movements.
– No history suggestive of sensory impairment.
– No h/o bowel, bladder disturbance.

4. • Past history
– Known diabetic for the past 10 yrs on regular treatment
and has been put on insulin for the past 1yr.
– Not a known Hypertensive, Asthmatic or epileptic.
– Was diagnosed to have a neurological illness at a private
hospital – pseudo-bulbar palsy/old CVA, previous
records/details not available
– No h/o any drug intake.
• Personal history
– Not a smoker
– Used to consume alcohol, which he stopped 10 yrs back.
• Family history:
– No h/o any neurological illness among family members.

5. • General examination
– Conscious
– Oriented
– Afebrile
– No pallor
– No clubbing
– No lymphadenopathy
– No peripheral edema
– No neurocutaneous markers

6. • Vitals
– Pulse 68/min
– Blood pressure 130/90 mmhg
– Respiratory rate 14/min
• Systemic examination
– CVS – S1, S2 heard
– RS – NVBS
– P/A – Soft

7. • Central nervous system
– HMF
• Conscious
• Oriented to
– Time
– Place
– Person
• Memory - N
– Recent
– Remote
• Speech
– Slurring+

8. • Cranial nerves
– Olfactory, optic – normal
– III, IV, VI
• Conjugate vertical gaze palsy
• Slowing of horizontal saccades
• VOR (dolls eye) – present, bells
phenomenon present
• Blink rate 4/min
– V, VII – XII - normal

11. • Spinomotor system:
Right Left
Upper limb Lower limb Upper limb Lower limb
Bulk Normal Normal Normal Normal
Tone Rigidity Rigidity Rigidity Rigidity
Power 5 5 5 5

12. • Reflex
Reflex Right Left
Jaw + +
Biceps ++ ++
Triceps ++ ++
Supinator + +
Knee ++ ++
Ankle + +
Abdominal + +
Plantar Flexor Flexor

13. – Gait
• Slow shuffling gait
– Involuntary movements
• nil
• Sensory system
– Touch, pain, temperature - normal
– Position, vibration – normal
– Cortical sensation - normal
• Co-ordination – normal
• No meningeal signs

14. • Initial diagnosis:-
– T2DM/ Parkinson plus syndrome
- ?Progressive Supra-nuclear Palsy

15. • Neurologist opinion
– ?Progressive supranuclear palsy/
pseudobulbar palsy
– to r/o multi infarct state
– To do MRI brain
– Psychiatrist evaluation

16. • MRI brain
– Radiologist opinion – normal study
– Discussion with neurologist
• signs of mid brain atrophy+
• hummingbird sign+

17. The humming bird sign

18. Treatment
• Co-carbidopa was started but did
not give any relief for the patient.
• Patient was put on anti
depressants (SSRI) as per
psychiatrist opinion.

19. Final diagnosis
• Steel Richardson Olszewski
syndrome (progressive
supranuclear palsy)/T2DM
– With features of
• Parkinsonism
• Pseudo bulbar palsy
• Supra nuclear vertical gaze palsy

20. DISCUSSION

21. Progressive Supranuclear Palsy
(PSP)
• Described by Steele et al. in 1964
– SUPRANUCLEAR OPHTHALMOPLEGIA, PSEUDOBULBAR PALSY, NUCHAL
DYSTONIA AND DEMENTIA. A CLINICAL REPORT ON EIGHT CASES OF
"HETEROGENOUS SYSTEM DEGENERATION". Richardson JC, Steele J,
Olszewski J. Trans Am Neurol Assoc. 1963;88:25-9
– PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS
DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND
CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY,
NUCHAL DYSTONIA AND DEMENTIA. Steele JC, Richardson JC, Olszewski
J. Arch Neurol. 1964 Apr;10:333-59
• 13 cases in the literature between 1904 and 1964

22. Epidemiology of PSP
• Affects 6-6.4 in 100,000 people
• 5-6% of patients with
Parkinsonism
• Onset late 50’s-early 60’s
• Men affected slightly more often
than women
• Average delay in diagnosis 3-5
years
• Cause unknown

23. PSP Diagnostic Criteria
=Clinically probable
=Clinically definite

24. How PSP differs from Parkinson’s
Disease
• Early falling and gait disturbance
• Symmetrical onset of symptoms
• Rare resting tremor
• Marked decreased blink rate (3-5x minute)
• Vertical gaze palsy
• Astonished facial expression
• Changes in mood and behavior
• Little response to Parkinson’s medications

25. TAUOPATHIES-Tau Protein
• Microtubule associated protein (part of the
cytoskeleton or cell framework)
• Gene is located on Chromosome 17
• Families with PSP have a certain form of tau (H1
tau genotype)
• Tau is abnormally processed in PSP
• About 90% of PSP patients have the H1/H1
genotype but so do about 60% of healthy subjects
• H1/H1 tau genotype predisposes to PSP but other
environmental or genetic factors are required

26. Tau Gene Abnormalities-

27. Tau Gene Abnormalities-
PAIRED HELICAL FIALMENTS

28. Bird and daisy

29. Bird and mouse

30. Atrophied Mid brain Tectum in PSP

31. Frontal atrophy in PSP

32. Quantification of Tau protein in various regions of brain

33. Progression of Supranuclear visual
system involvement
• HYPOMETRIC SACCADES (SLOWING)
• DOWN GAZE FIRST AFFECTED
SACCADES
• DOWNGAZE RESTRICTION
• UPGAZE RESTRICTION
• HORIZONTAL GAZE RESTRICTION
PURSUITS
• SQUARE WAVE JERKS
• DUE TO SACCADIC INTRUSIONS WHILE
FIXING
FIXATION
• CONVERGENCE PARALYSISVERGENCE
COMPLETE
OPHTHALMOPLEGEA

34. Differential diagnosis
• The closest DD is Parkinson's disease.
• The visual and cognitive signs are shared
with a number of other conditions:
– Alzheimer's disease (large saccadic
intrusions)
– Cortico-basal degeneration (greater
latency of saccades)
– Creutzfeld Jacob's disease (slow saccades
both vertical and horizontal)
– Huntington’s chorea (slow saccades with
difficulty in suppressing reflex saccades)

35. Similarities and difference between PD
and PSP
FEATURE Similarities PD characteristic PSP characteristic
Age at onset Middle age to elderly Mean age 54 yrs 60 and up
Progression insidious Gradual Rapid deterioration
Visual Hypometric saccades,
decreased blink rate
Increased saccade
latency
Vertical gaze difficulty,
saccade intrusion
Gait
/movement
Delayed initiation of
movements, cogwheeling
Lean forwards, shuffling Fall back or to one side
Speech Affected in later stages Garbled, muted
Affect Flat stare Smoothed, mask like Astonished with
frontalis contraction
Therapy L-Dopa Reduction of symptoms Only reduces initiation
of movt difficulties.

36. Treatment
• Drug therapy has shown little promise in
PSP.
• L-Dopa may exacerbate the ocular
symptoms in upto 50% of the patients.
However it tends to alleviate the
parkinsonian features (bradykinesia,
rigidity, balance disturbance)
• Physostigmine has shown to disinhibit
the reflex saccades. But there is no
effect on extrapyramidal symptoms.
• Zolpidem has been tried for paients with
dystonias.

37. Visual rehabilitation
• Prism glasses aid in
improving the ocular
symptoms.
• They help in bringing
the inferior visual space
to the primary gaze
position.

38. Horizontal and vertical gaze palsy
• Horizontal
– Neural input:
• cerebral hemispheres,
cerebellum, vestibular
nuclei, and neck
– Horizontal gaze center
(PPRF)
– Final command to the
adjacent 6th NN, and, via
the MLF, to the
contralateral 3rd NN.
– Pontine stroke,
contralateral frontal lesions
• Vertical
– Neural input:
• Vestibular system via MLF
• Cerebral hemispheres via
midbrain pretectum.
– Interstitial nucleus of Cajal,
Rostral interstitial nucleus
of MLF (riMLF)
– Command to 3 &4 NN.
– Upgaze –Perinaud’s
syndrome
– Downgaze – PSP

39. References
• Neurology in clinical practice 5th e -Walter G Bradley
• Adam & victor’s principles of neurology 9th e
• The merck manual
• Progressive supranuclear palsy – An overview of
rehablitaiton B.R. Lowrey JBO vol 11, no.5, 2000
• emedicine.com