Block 4 - Cns Degenerative Diseases

Front 1

What degenerative disease involves the progressive loss of neurons in the entire cerebral cortex and can be diagnosed 80-90% of the time by CT or MRI?

Back 1

Alzheimers Disease

Front 2

What is the precursor protein that is cleaved by Beta and gamma secretase to yield AB protein, which is a critical molecule in the pathogenesis of ALzhemiers disease?

Back 2

Amyloid Prcursor Protein

Front 3

What key abnormal protein in AD aggregates, forms B pleats, binds congo red, is resistant to breakdown and is neurotoxic?

Back 3

AB protein

Front 4

Where is the APP gene?

Back 4

chr 21

Front 5

Which two genes that are on chrs 14 and 1 respectively, are componenets of gamma secretase?

Back 5

Presenilin 1 and presenilin 2

Front 6

Which mutation on chr 19 increases the risk of developing AD and lowers age of onset?

Back 6

Apo E4

Front 7

How is Downs Syndrome related to the onset of AD?

Back 7

lowers onset age to 30s or 40s

Front 8

What is the dominant componenet of the central amyloid core of an AD neuritic plaque?

Back 8

AB peptide

Front 9

What pathologic stucture in AD are characterized by bundles of filaments in the cytoplasm and tend to a flame shape in pyramidal neurons, and stain with sliver?

Back 9

Neurofibrillary Tangles

Front 10

What is deposited in the walls of small meneingeal and cortical arteries in AD?

Back 10

amyloid

Front 11

What is the term given to elongated, eosinophilic, actin containing bodies found in pyramidal neurons of a person with AD?

Back 11

Hirano Bodies

Front 12

Is there treament available, that will slow the progression of AD?

Back 12

No

Front 13

What is general life expectancy after Dx of AD?

Back 13

7-8 yrs

Front 14

Which lobes are most affected in AD?

Back 14

Frontal

Parietal

Temporal

Front 15

What is an uncommon form of dementia that occurs aroung 45-60 yrs of age, is characterized by slective anterior frontal and temporal lobar atrophy, exhibits no neurofibrillary tangles, and whose cause is unknown?

Back 15

Pick Disease

Front 16

What are characterized as round, slightly eosinophilic cytoplasmic inclusions which are strongly positive staining with silver stain and do not remain after the death of the patient in the CNS tissue?

Back 16

Pick Bodies

Front 17

What is a basal ganglia degeneration that is a result of decreased dopamine and causes dysfunction of the pyramidal system?

Back 17

Parkinsons Disease

Front 18

What is the name given to rounded eosinophilic cytoplasmic inclusions in the remaining neurons of a patient suffering from parkinsons?

Back 18

Lewy Bodies

Front 19

What process occurs when neurons are lost on the substantia nidra and other basal ganglia in Parkinsons?

Back 19

gliosis

Front 20

What is the term given to the stooped forward gait of short, shuffling steps that is often seen in patients with advanced Parkinsons?

Back 20

Festinating gait

Front 21

Can dementia develop in Parkinsons disease?

Back 21

10-15%

Front 22

What is the treatment, albeit with a poor prognosis for Parkinsons Disease?

Back 22

Carbi-levodopa

Front 23

What are two other causes of Parkinsons?

Back 23

Encephalitis

Drugs such as phenothiazine and reserpine (reversible)

Front 24

What is a rare AD degenarative disease, having complete penetrance, whose abnormality is located on the short arm of chr 4, causing severe los of neurons in the caudate nucleus and putamen, with variable cerebro-cortical atrophy?

Back 24

Huntington's Chorea

Front 25

What is the inheritance pattern of most spinocerebellar degenerations?

Back 25

AD

Front 26

What is the name of a spinocerebellar degeneration that is AR, involves degeneration of spinocerebellar tracts, posterior column, the pyramidal tract and peripheral nerves, that often presents in late childhood and causes incoordination and muscle weakness?

Back 26

Friederich ataxia

Front 27

Where does degeneration ususally follow after LMN and UMN degeneration?

Back 27

Corticospinal tract

Front 28

What is the name of a MN disease that causes upper motor paralysis of the extremities, skeletal muscle neurogenic atrophy, hypertonia of muscles, and exaggerated deep tendon reflexes?

Back 28

Amyotrophic Lateral Sclerosis

Front 29

What are the genetics of ALS?

Back 29

AD

SOD 1 gene on chr 21

Front 30

What is the ususal cause of death in ALS?

Back 30

bronchopneumonia

Front 31

What is the MN involvement in end stage ALS?

Back 31

UMN and LMN

Front 32

What is a MN disease that is caused by AR deletions of the SMN gene on chr 5, causing loss of MNs in the anterior horn (ultimately leading to denervation and atrophy of skeletal muscle groups, having a relentless course that results in a majority of patients dying in the 1st year of life?

Back 32

Spinal Muscular Atrophy Type 1

Front 33

What is the main difference between SMA type 1 and SMA types 2 & 3?

Back 33

2 & 3 have a later onsent and a more protracted clincal course