Neurodegenerative genetics

Question 1

What causes EARLY onset AD?

Answer 1

• Presenilin 1; autosomal dominant; Chr 14
• Presenilin 2; autsomal dominant; Chr 1
• amyloid precursor protein (APP); Chr 21

Question 2

What genetic mutation increase the risk of LATE onset AD?

Answer 2

ApoE €4, chromosome 19

Question 3

which two genetic mutations cause early onset parkinsonism? Which chromosome? What inheritance?

Answer 3

PARK6 - chromosome 1

PARK8 - chromosome 12

Both are autosomal recessive

Question 4

Which PD causing mutations are on Chr 4? Inheritance?

Answer 4

PARK1 (alpha-synuclein)

PARK4

both are autosomal dominant

Dementia si a key feature

Question 5

Name the two genetic causes of parkinson’s disease that have special protein names

Answer 5

PARK1 (alpha synuclein) - dementia - AD - chr 4

PARK2 (parkin) - dystonia - AR - crh 6