Neurodegenerative Disorders

Question 1

Dementia

Answer 1

Gradual decline in cognitive function that includes memory deficits and behavioral changes

Question 2

What are some possible causes of dementia?

Answer 2

• Stroke
• Infection
• Tumors
• Drugs
• Vitamin Deficiency

Question 3

What are the diseases that primarily affect the cerebral cortex?

Answer 3

• Alzheimer’s
• Lewy Body Disease
• Frontotemporal Dementias

Question 4

What is the most common cause of senile dementia in people over 65?

Answer 4

Alzheimer’s Disease

Question 5

What genes can lead to the early onset of Alzheimer’s disease?

Answer 5

• APP (amyloid precursor protein) on Ch21

- Presenilin 1 and 2

Question 6

What gene is related to late onset Alzheimer’s?

Answer 6

ApoE4 on Ch19

Question 7

What gene is protective against Alzheimer’s?

Answer 7

ApoE2

Question 8

What will be seen grossly in Alzheimer’s?

Answer 8

Cerebral atrophy

Question 9

Hydrocephalus Ex Vacuo

Answer 9

Dilatation of the vacuoles in response to cerebral atrophy

Question 10

What are the hallmarks of Alzheimer’s?

Answer 10

• Neurofibrillary tangles of hyperphosphorylated tau protein

- Amyloid plaques

Question 11

Amyloid Angiopathy

Answer 11

Amyloid deposition in the walls of arterial vessels in subarachnoid space - seen in most cases of Alzheimer’s

Question 12

What are the symptoms of Lewy Body Disease?

Answer 12

Initial dementia with visual hallucination with parkinsonian symptoms

Question 13

What is the hallmark of Lewy Body disease?

Answer 13

Lewy Bodies of alpha-synuclein

Question 14

What are the majority of frontotemproal lobar degenerative diseases linked to?

Answer 14

Mutations in tau protein on Ch17

Question 15

Pick’s Disease

Answer 15

A type of frontotemporal dementia that is rare

Question 16

What is the classic presentation of Pick’s Disease?

Answer 16

Patients present with aphasia instead of dementia, but will develop memory loss with time

Question 17

What is generally spared in frontotemporal degeneration?

Answer 17

Superior Temporal Lobe

Question 18

What are Pick bodies?

Answer 18

Globose neuronal inclusions of tau protein that are deposited in the hippocampus and the cortex

Question 19

What are some diseases affecting the basal ganglia?

Answer 19

• Parkinson’s

- Huntington’s

Question 20

Multiple System Atrophy

Answer 20

Symptoms consist of variable combination of parkinsonism, cerebellar ataxia, and autonomic dysfunction – depend on the neuronal system involved

Question 21

Werdnig-Hoffmann Disease (SMA Type I)

Answer 21

Autosomal recessive and causes floppy baby syndrome with the degeneration of LMNs

Question 22

Kugelberg-Walander Disease (SMA Type II)

Answer 22

Similar to Werdnig-Hoffmann but presents at 3 months of age or later and is more mild

Question 23

SMA Type III

Answer 23

Very rare and similar to Werdnig-Hoffmann but less severe with onset in infancy to early adolescence

Question 24

What is the cause of all 3 types of spinal muscular atrophy (SMA)?

Answer 24

Mutations in genes SMN1/2 on Ch5

Question 25

Friedrich’s Ataxia

Answer 25

• Autosomal recessive
• Trinucleotide repeat GAA (glutamic acid) in
frataxin gene on Ch9

Question 26

What is the most common hereditary ataxia?

Answer 26

Friedreich’s Ataxia

Question 27

Wernicke’s Encephalopathy

Answer 27

• oculomotor abnormalities (ophthalmoplegia, nystagmus)
• cerebellar dysfunction
• altered mental status

Question 28

Korsakoff Psychosis

Answer 28

– Loss of recent memory compensated by confabulation

Question 29

Subacute Combined Degeneration

Answer 29

Myelin loss in posterior and lateral columns

Question 30

What is the cause of central pontine myelinolysis?

Answer 30

‐Rapid correction of electrolyte
imbalances, especially chronic
hyponatremia