- 1. An Uncommon Movement Disorder SMC -M5 unit Prof. P.
Vijayaraghavans 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 9. 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 10. Reflex Reflex Right
Left Jaw + + Biceps ++ ++ Triceps ++ ++ Supinator + + Knee ++ ++
Ankle + + Abdominal + + Plantar Flexor Flexor 11. 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 12.
Initial diagnosis:- T2DM/ Parkinson plus syndrome - ?Progressive
Supra-nuclear Palsy 13. Neurologist opinion ?Progressive
supranuclear palsy/ pseudobulbar palsy to r/o multi infarct state
To do MRI brain Psychiatrist evaluation 14. MRI brain Radiologist
opinion normal study Discussion with neurologist signs of mid brain
atrophy+ hummingbird sign+ 15. The humming bird sign 16. 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. 17. Final diagnosis Steel Richardson
Olszewski syndrome (progressive supranuclear palsy)/T2DM With
features of Parkinsonism Pseudo bulbar palsy Supra nuclear vertical
gaze palsy 18. DISCUSSION 19. 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 20.
Epidemiology of PSP Affects 6-6.4 in 100,000 people 5-6% of
patients with Parkinsonism Onset late 50s-early 60s Men affected
slightly more often than women Average delay in diagnosis 3-5 years
Cause unknown 21. PSP Diagnostic Criteria =Clinically probable
=Clinically definite 22. How PSP differs from Parkinsons 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 Parkinsons medications 23.
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 24. Tau Gene Abnormalities- 25. Tau Gene
Abnormalities- PAIRED HELICAL FIALMENTS 26. Bird and daisy 27. Bird
and mouse 28. Atrophied Mid brain Tectum in PSP 29. Frontal atrophy
in PSP 30. Quantification of Tau protein in various regions of
brain 31. 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 32.
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)
Huntingtons chorea (slow saccades with difficulty in suppressing
reflex saccades) 33. 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. 34. 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. 35. Visual rehabilitation Prism
glasses aid in improving the ocular symptoms. They help in bringing
the inferior visual space to the primary gaze position. 36.
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 Perinauds syndrome Downgaze
PSP 37. References Neurology in clinical practice 5th e -Walter G
Bradley Adam & victors 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
