Neurodegenerative Diseases

Question 1

What is a neurodegenerative disease

Answer 1

Umbrella term for a range of conditions resulting from loss of neuronal structure or function in brain (sometimes spinal cord)

Question 2

Consequences of neuronal loss in frontal lobes

Answer 2

BEHAVIOUR
- impaired judgement, abstract reasoning, emotional restraint, control of appetite and continence

Question 3

Consequences of neuronal loss in medial-temporal lobe

Answer 3

• disorders of memory and hallucinations

Question 4

Consequences of neuronal loss in temporal neocortex

Answer 4

• receptive dysphasia and automatisms

Question 5

Consequences of neuronal loss in occipital lobe

Answer 5

• failure of visual and sensory systems

Question 6

consequences of neuronal loss in parietal lobe

Answer 6

• impairment of visuospatial skills & integration of sensory inputs
• sensory agnosia and apraxia

Question 7

Describe Alzheimers pathology

Answer 7

• Abnormal deposition of amyloid- Aß plaques & tau (neurofibrillary tangles)

Question 8

Familial Alzheimers (Chromosome & Gene)

Answer 8

• Chromosome 21 (APP)
• Chromosome 19 (APOE e4 allele)
• Chromosome 14 (Presenilin1)
• Chromosome 1 (Prenesilin2)

Question 9

What is the with AD associated amyloid angiopathy

Answer 9

condition characterized by the accumulation of amyloid protein deposits in the walls of the blood vessels in the brain. These deposits can weaken the blood vessels and make them more prone to bleeding (hemorrhage).

Question 10

What are potential blood based biomarkers for AD prognosis

Answer 10

p-tau 181: predicts AD 8 years prior to death

p-tau 217: Predicts AD up to 20 years prior to death

Question 11

What is PDs pathology

Answer 11

neuronal loss in substantia nigra
and presence of Lewy bodies

Question 12

What is the pathology behind Dementia with lewy bodies

Answer 12

Lewy bodies in SN and cortical areas in large numbers

Question 13

What is the pathology behind vascular dementia?

Answer 13

1. Multi-infarct dementia step wise
2. Diffuse white matter changes (=hypertension)
3. Strategic infarct (e.g. thalamus)

Question 14

What is the pathology behind Huntingtons disease

Answer 14

Autosomal Dominant (chromosome 4 huntington gene) = CAG repeat expansion (polyglutamine disease)

Question 15

What happens in the huntingtons brain

Answer 15

-shrinkage of caudate putamen
- neuronal loss astrocytosis Ubiq +ve inclusion

Question 16

Pathological describtion of Frontotemporal lobar degeneration

Answer 16

frontotemporal lobar degeneration with TDP-43 positive inclusion (FTLD-TDP) or Picks’s disease (FTLD-Tau)

Question 17

Genes involved in ALS

Answer 17

• C9ORF72 repeat expansion
  -TARDP mutation
  -SOD1 mutation
  -FUS mutation
• TDP-43 (97%)

Question 18

What is the pathology behind ALS?

Answer 18

Combined damage to upper and lower motor neurons