3. INTRODUCTION
• Ataxia is derived from greek word
‘a’ - not
‘taxis’ - orderly
( not orderly/ not in order )
• The term ataxia is used by clinicians to denote a
syndrome of imbalance and incoordination
involving gait and limbs, as well as speech; it
usually connotes a disorder involving the
cerebellum or its connections
4. DEFINING ATAXIA
• Ataxia is a symptom, not a specific disease or
diagnosis.
• Ataxia means poor coordination of movement.
• The term ataxia is most often used to describe
walking that is uncoordinated and unsteady.
Ataxia can affect coordination of
fingers, hands, arms, speech (dysarthria) and eye
movements (nystagmus).
5. • Ataxia can also result from disturbances of
sensory input to the cerebellum, especially
proprioceptive input and also involvement of
vestibular system.
• The clinical approach to patients with ataxia
involves differentiating ataxia from other sources
of imbalance and inco-ordination, distinguishing
cerebellar from sensory ataxia, and designing an
evaluation based on knowledge regarding
various causes of ataxia and cerebellar disorders.
7. • Acute cerebellar lesions often produce severe
abnormalities early but may show remarkable
recovery with time & some of the ataxias are
reversible.
• Chronic progressive diseases of the cerebellum tend
to cause a gradually declining balance with longer
lasting effects. To some extent, signs and symptoms
have a relation to the location of the lesions in the
cerebellum.
• Generalized cerebellar lesions give rise to
symmetrical symptomatology.
8. MECHANISM OF DEVELOPING ATAXIA
• ANATOMY OF CEREBELLUM
- LOBES
- AFFERENTS
- EFFERENTS
- FUNCTIONS
10. 1. HEMISPHERES
- Appendicular coordination
2. VERMIS
- Gait & other axial functions
3. FLOCCULO- NODULAR/ VESTIBULO
CEREBELLUM
- Eye movements & gross balance & gross
orientation like up and down.
13. • The inferior cerebellar peduncle contains many
fiber systems from the spinal cord (including
fibers from the dorsal spinocerebellar tracts and
cuneocerebellar tract and lower brain stem
(including the olivocerebellar fibers from the
inferior olivary nuclei, which give rise to the
climbing fibers within the cerebellar cortex).
• The inferior cerebellar peduncle also contains
inputs from the vestibular nuclei and nerve and
efferents to the vestibular nuclei.
14. • The middle cerebellar peduncle consists of fibers
from the contralateral pontine nuclei. These
nuclei receive input from many areas of the
cerebral cortex.
• The superior cerebellar peduncle, composed
mostly of efferent fibers, contains axons that
send impulses to both the thalamus and spinal
cord, with relays in the red nuclei. Afferent fibers
from the ventral spinocerebellar tract also enter
the cerebellum via this peduncle.
17. • ARCHICEREBELLUM/ FLOCCULO NODULAR/
VESTIBULO CERELLUM
- Eye movements, gross balance and orientation
- Inferior cerebellar pudencle
• PALLEOCEREBELLUM/ SPINOCEREBELLUM/ VERMIS
& PAR VERMIAN REGION
- Posture, Muscle tone, Axial muscle
control, Locomotion
- Inferior/ middle/ superior pudencle
• NEOCEREBELLUM/ CELEBELLAR HEMISPHERES/
PONTO CEREBELLUM
- Coordinating movements, Fine motor control
- middle/ superior pudencle
21. a b c
Cerebellar
Ataxia
Ataxic gait and
position:
d Left cerebellar tumor
a. Sways to the right in
standing position
b. Steady on the
right leg
c. Unsteady on the
left leg
d. ataxic gait
23. • SENSORY- Sensory disturbances can also on occasion
simulate the imbalance of cerebellar disease; with
sensory ataxia, imbalance dramatically worsens when
visual input is removed (Romberg sign).
• VESTIBULAR – ataxia associated with vestibular nerve
or labyrinthine disease results in a disorder of gait
associated with a significant degree of dizziness, light-
headedness, or the perception of movement
• PSEUDO ATAXIA- Mild Pyramidal weakness &
Extrapyramidal disorders, weakness of proximal leg
muscles mimics cerebellar disease
• PSYCHOGENIC – Extremely anxious patients
24. CLASSIFICATION
• BASED ON ONSET AND PROGRESSION
- ACUTE
- SUB ACUTE
- CHRONIC
• BASED ON SITE OF PRESENTATION
- UNILATERAL
- BILATERAL
- LIMB ATAXIA
- TRUNCAL ATAXIA
25. MISCELLANEOUS
• WING- BEATING ATAXIA/ RUBRAL ATAXIA
- Involvement of rubro- cerebello- thalamo tract
and red nucleus
- seen in 1. MS
2. Wilsons
3. Midbrain stroke
• THALAMIC ATAXIA
- An unusual and transient ataxia of the
contralateral limbs occurs acutely after infarction
or hemorrhage in the anterior thalamus
26. MISCELLANEOUS
• Vertiginous ataxia is primarily an ataxia of gait and is
distinguished by the obvious complaint of vertigo and
listing to one side, past pointing, and rotary nystagmus.
• The nonvertiginous ataxia of gait caused by vestibular
paresis (e.g., streptomycin toxicity).
• Vertigo and cerebellar ataxia may be concurrent, as in
some patients with a paraneoplastic disease and in
those with infarction of the lateral medulla and inferior
cerebellum.
30. CASE
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.
31. CASE
• 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
32. CASE
• 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
33. CASE
• 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.
34. CASE
• 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
35. CASE
• 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 .
36. CASE
• 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
73. Machado-Joseph Disease/Sca3
• MJD was first described among the Portuguese and their descendants in New
England and California. Subsequently, MJD has been found in families from
Portugal, Australia, Brazil, Canada, China, England, France, India, Israel, Italy, Ja
pan, Spain, Taiwan, and the United States. In most populations, it is the most
common autosomal dominant ataxia.
Symptoms and Signs
MJD has been classified into three clinical types.
In type I MJD (amyotrophic lateral sclerosis–parkinsonism–dystonia type),
- neurologic-deficits appear in the first two decades and
- involve weakness and spasticity of extremities, especially the legs, often with
dystonia of the face, neck, trunk, and extremities.
- Patellar and ankle clonus are common, as are extensor plantar responses. The
gait is slow and stiff, with a slightly broadened base and lurching from side to
side; this gait results from spasticity, not true ataxia.
- There is no truncal titubation. Pharyngeal weakness and spasticity cause
difficulty with speech and swallowing.
- Of note is the prominence of horizontal and vertical nystagmus, loss of fast
saccadic eye movements, hypermetric and hypometric saccades, and
impairment of upward vertical gaze.
- Facial fasciculations, facial myokymia, lingual fasciculations without
atrophy, ophthalmoparesis, and ocular prominence are common early
manifestations.
74. • In type II MJD (ataxic type)
- true cerebellar deficits of dysarthria and gait and extremity ataxia begin in
the second to fourth decades along with corticospinal and extrapyramidal
deficits of spasticity, rigidity, and dystonia.
- Type II is the most common form of MJD. Ophthalmoparesis, upward
vertical gaze deficits, and facial and lingual fasciculations are also present.
- Type II MJD can be distinguished from the clinically similar disorders SCA1
and SCA2.
• Type III MJD (ataxic-amyotrophic type)
- presents in the fifth to the seventh decades with a pancerebellar disorder
that includes dysarthria and gait and extremity ataxia.
- Distal sensory loss involving pain, touch, vibration, and position senses
and distal atrophy are prominent, indicating the presence of peripheral
neuropathy.
- The deep tendon reflexes are depressed to absent, and there are no
corticospinal or extrapyramidal findings.
75. • The mean age of onset of symptoms in MJD is 25 years.
• Neurologic deficits invariably progress and lead to death from debilitation
within 15 years of onset, especially in patients with types I and II disease.
• Usually, patients retain full intellectual function.
• The major pathologic findings are variable loss of neurons and glial
replacement in the corpus striatum and severe loss of neurons in the pars
compacta of the substantia nigra.
• A moderate loss of neurons occurs in the dentate nucleus of the cerebellum
and in the red nucleus.
• Purkinje cell loss and granule cell loss occur in the cerebellar cortex.
• Cell loss also occurs in the dentate nucleus and in the cranial nerve motor
nuclei.
• Sparing of the inferior olives distinguishes MJD from other dominantly
inherited ataxias.
76. 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
84. FA: Clinical features
Severe ataxia
Areflexia and Musculoskeletal
cardiomyopathy
↓proprioception abnormalities
85. 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.
87. 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].
88. 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].
92. REFERENCES
1. HARRISONS 18th EDITION
2. ADAM & VICTORS
3. BRADLEY
4. BRAIN’S
5. DEJONG
6. JOHN PATTEN