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Presented by:
Vidyaningtyas BA, MD
Yanuarita T, MD
Widagdo S, MD
 Inability to make smooth, accurate and coordinated
movements, usually due to a disorder of the cerebellum
and / or sensory pathways in the posterior column of the
spinal cord .
 Inability to make smooth, accurate and coordinated
movements, usually due to a disorder of the cerebellum
and / or sensory pathways in the posterior column of the
spinal cord .
Types:
 Cerebellar ataxia
 Sensory ataxia
 Vestibular ataxia
 Inability to make smooth, accurate and coordinated
movements, usually due to a disorder of the cerebellum
and / or sensory pathways in the posterior column of the
spinal cord .
Types:
 Cerebellar ataxia
 Sensory ataxia
 Vestibular ataxia
• Due to dysfunction of the cerebellum.
• Accompanied by hypotonia, asynergy,
dysmetria, dyschronometria, and
dysdiadochokinesia.
• Classified as vestibulocerebellum,
spinocerebellum, cerebrocerebellum.
 Inability to make smooth, accurate and coordinated
movements, usually due to a disorder of the cerebellum
and / or sensory pathways in the posterior column of the
spinal cord .
Types:
 Cerebellar ataxia
 Sensory ataxia
 Vestibular ataxia
• Due to dysfunction of the cerebellum.
• Accompanied by hypotonia, asynergy,
dysmetria, dyschronometria, and
dysdiadochokinesia.
• Classified as vestibulocerebellum,
spinocerebellum, cerebrocerebellum.
 Inability to make smooth, accurate and coordinated
movements, usually due to a disorder of the cerebellum
and / or sensory pathways in the posterior column of the
spinal cord .
Types:
 Cerebellar ataxia
 Sensory ataxia
 Vestibular ataxia
• due to loss of proprioception - the loss
of sensitivity to the positions of joint
and body parts
• Romberg’s test positive, ataxic hand
 Inability to make smooth, accurate and coordinated
movements, usually due to a disorder of the cerebellum
and / or sensory pathways in the posterior column of the
spinal cord .
Types:
 Cerebellar ataxia
 Sensory ataxia
 Vestibular ataxia
• due to dysfunction of vestibular system,
• may be associated with prominent
vertigo, nausea, vomiting
Ataxia
Symmetrical
Acute
Asymmetrical
Chronic
Inherited
ataxia
Acute
Chronic
Ataxia
Symmetrical
Acute
Asymmetrical
Chronic
Inherited
ataxia
Acute
Chronic
• As one of the members of chronic
symmetrical ataxia which is genetically
based
Harding A (1984)
 Congenital
 Metabolic
 Defective DNA repair
 Degenerative
J Neurol 2004;251:913-22
Michelle G et al (2004)
 Mitochondrial
 Metabolic
 Defective DNA repair
 Abnormal protein folding and
degradation
 Channelopathies
 Others
Harding A (1984)
 Congenital
 Metabolic
 Defective DNA repair
 Degenerative
J Neurol 2004;251:913-22
Michelle G et al (2004)
 Mitochondrial
 Metabolic
 Defective DNA repair
 Abnormal protein folding and
degradation
 Channelopathies
 Others
Mendelian:
Autosomal dominant, Autosomal recessive, X-linked
Neuro Sci 2001;21:219-28
 Commonest form among early onset autosomal recessive
ataxia in Europe
 Defect at 9q13-q21.1  98% abnormally expanded GAA
in 1st intron  decreased frataxin expression
J Neurol 2004;251:913-22
 Commonest form among early onset autosomal recessive
ataxia in Europe
 Defect at 9q13-q21.1  98% abnormally expanded GAA
in 1st intron  decreased frataxin expression
 Paternal transmission shows contraction
 Clinical manifestation: progressive gait and limb ataxia,
dysarthria, absent tendon reflexes, babinski signs,
decreased vibration sense, sensory axonal peripheral
neuropathy, cardiac hypertrophy, diabetes.
J Neurol 2004;251:913-22
 SCA is the main example.
 After SCA1 was found in
1993, others named based
on number
 Deficiency of urea cycle enzyme  deficiency of ornithine




transcarbamylase as the most common 
hyperammonemia.
Lethal in male
Female: no symptoms – profound neurological
impairment
Clinical manifestation: irritability, episodic vomiting,
ataxia, dysarthria, lethargy, coma, developmental delay,
mental retardation, seizure.
Treatment: low protein diet, arginine.
 Fragile X-associated tremor/ataxia syndrome (FXTAS) is





characterized by tremor and cerebellar gait ataxia.
caused by moderate expansions of a CGG trinucleotide in
FMR1 gene
The pathogenic mechanism is related to overexpression and
toxicity of the FMR1 mRNA
Clinical manifestation: intention tremor, cerebellar gait and
limb ataxia, parkinsonism,decreased reflexes, orthostatic
hypotension, impotence, progressive loss of bowel and
bladder control.
The pathological hallmark of FXTAS is the presence of
intranuclear inclusions in neurons and astrocytes throughout
the brain increased T2 signal intensity in white matter of the
MCP
Treatment: low protei n diet, arginine.
The
Diagnosis
inheritance
pattern
Genetic
counselling
Molecular
test,Prenatal
Diagnosis
Recurrence
risk