Ataxia

1)Cerebellar
A) Hereditary
Early onset <25yr Late onset >25yr
Autosomal recessive
Friedrich ataxia ADCA type I: ophthalmoplegia +
Other AR: extrapyramidal
1. Resemble FA e retained ADCA type II: retinal degeneration
reflexes
 ADCA type III: pure cerebellar ataxia
2. e optic atrophy
3. e cataract & MR ADCA e sensory neuropathy
4. e deafness DRPLA: dentate-rubral pallido-luysian
5. e hypogonadism atrophy
6. e myoclonus Episodic ataxia
7. e extrapyramidal
X-linked
B) Symptomatic
1)Cong Chiari, bailar impression
2)Traumatic
3)Infection Encephalitis, abscess, tuberculoma
4)Vascular Infarction or hge
5)Tumor Intra or extraaxial + PNS
6)Demyelination
7)Toxic AED: phenytoin, CMZ
Lithium, 5flurouracil, Mercury
Alcohol, Mariguana

2) Sensory
1) Peripheral nerve
2)Dorsal root Tabes dorsalis
3)Post column SCD, Brown sequard syndrome
4)Brain stem
5)Thalamic
6)Sensory cortex

3)Vestibular 1. Menier
2. Labyrinthitis: viral, toxic, 2ry to OM
3. Acoustic neuroma
4)Mixed 1. FA= Cerebellar + sensory
2. Acoustic neuroma= Cerebellar + vestibular
3. Wallenberg= Cerebellar + vestibular

Intermittent ataxia
Drug or toxin MS TIA Migraine
Metabolic ataxia Episodic ataxia Intermittent HCP Foramen magnum compression
 Friedreich's Ataxia
Incidence Most common hereditary ataxia
½ all hereditary ataxias
AE Unstable GAA expansion (unique with no anticipation)
Occasionally: point mutation in gene x25 encoding frataxin
Path "Dying back phenomenon" of axons, beginning in the periphery with ultimate loss of neurons
and a secondary gliosis.
• Sites of these changes are the spinal cord and spinal roots  loss of large, myelinated axons in
peripheral nerves, which  with age and disease duration.
1. The posterior columns
2. Pyramidal tract
3. Ventral, and lateral spinocerebellar tracts
C/P Age: 5-15yr with gradual onset, slowly progressive course
• Cardinal features:
1. cerebellar features: nystagmus, ataxia, slurred stactto speech
2. Pyramidal features: Weakness, EPR
3. Post column: impaired deep sensation, sensory ataxia
4. Peripheral N: hypotonia, hyporeflexia, distal atrohy, G & S hypothesia
Loss of ambulation typically occurs 15 years after disease onset, >95% of patients are
wheelchair bound by age 45 years.
• Variable features:
1. Skeletal: Scoliosis, pes cavus, spina bifida
2. Cardiomyopathy
3. OA, deafness,
4. DM
Variants Late onset FA: >25yr, slowly progressive
FARR (e retained reflexes)
Investig Genetic test to verify the GAA repeat expansion
ECG, Echo
CT & MRI: normal cerebellum (in advanced cases slight atrophy)
TTT Physiotherapy, genetic counseling, ttt cardiac problems, orthopedic for deformity

Syndromes with pathological expansion of trinucleotide repeat

ADCA (GAA) Myotonia dystrophica (CTG) Huntington dse (CAG)
Fragile X syndrome X-linked bulbospinal neuropathy (CAG)