Spinocerebellar Ataxia (SCA)

Question 1

What is SCA?

Answer 1

Progressive, degenerative, genetic disease with multiple types.
No effective treatment
Recessive or dominant gene is cause

Question 2

What are the symptoms of SCA?

Answer 2

Slowly progressive in-coordination of gait, hands, speech and eye movements. Atrophy of cerebellum occurs.
Loss of coordination. If activity
Problems controlling individual muscles and joints add together complex tasks involving several parts of the body.

Question 3

What’s a Polyglutamine Disease?

Answer 3

Caused when a disease associated protein constrains large number of repeats of glutamine residue.
Many SCAs are this type of disease

Question 4

What is the cause?

Answer 4

Hereditary ataxia categorised by mode of inheritance.
Autosomal dominant
Autosomal recessive
X-Linked

Question 5

Describe ADCA (Autosomal Dominant Cerebellar Ataxia)

Answer 5

3 types:
Type 1 has 3 subtypes
Subtype 1= CAG nucleotide repeats in DNA which codes for the AA glutamine
Subtype 2= same nucleotide repeats but instead RNA in intron.
Subtype 3= different mutations and deletions in genes