Friedrich’s Ataxia
FRIEDREICH’S ATAXIA
Etiology:
- Autosomal Recessive disorder,
- Most common form of Inherited Ataxiae
The classic form of Friedreich’s ataxia has been mapped to 9q13-q21.1, and the mutant gene, frataxin, contains expanded GAA triplet repeats in the first intron. There is homozygosity for expanded GAA repeats in >95% of patients.
Normal persons have 7–22 GAA repeats, and patients have 200–900 GAA repeats.
Characteristic Diagnostic features:
- Chronic Slowly progressive cerebella,- ataxia
- Absent lower limb deep tendon reflexes with an extensor plantar response
- Associated features of
- Cardiomyopathy
- Diabetes
- Spine or foot deformity
Clinical and Histologic manifestations:
- The primary sites of pathology: spinal cord, dorsal root ganglion cells, and the peripheral nerves
- The cerebral cortex is histologically normal except for loss of Betz cells in the precentral gyri
- Chronic progressive wide based ataxia, Progressive staggering gait
- Frequent falls, truncal titubation
- Loss of fast saccadic eye movements -Nystagmus, Dysarthria, Dysmetria Titubation
- The median age of death is 35 years
- Women have a significantly better prognosis than men
Other Characteristic Manifestation
- Orthopaedic
- Kyphoscoliosis (spine defbrinity) Pescavus (foot deformity)
- Cardiac
- Cardiomyopathy (90%)
- Endocrine
- Diabetes (20%)
- Eye
- Optic and Retinal Atrophy
- Psychiatric
- Dementia
Exam Question
FRIEDREICH’S ATAXIA
Etiology:
The classic form of Friedreich’s ataxia has been mapped to 9q13-q21.1, and the mutant gene, frataxin, contains expanded GAA triplet repeats in the first intron. There is homozygosity for expanded GAA repeats in >95% of patients.
Characteristic Diagnostic features:
- Chronic Slowly progressive cerebella,- ataxia
- Absent lower limb deep tendon reflexes with an extensor plantar response
- Associated features of
- Cardiomyopathy
- Diabetes
- Spine or foot deformity
Don’t Forget to Solve all the previous Year Question asked on Friedrich’s Ataxia