Path- 6: Degenerative Diseases

Question 1

What is the epidemiology of parkinsons?

Answer 1

6-8 decades of life, 2% of muricans, men > women, most are sporatic/idiopathic (some are AD but thats rare)

Question 2

What 2 things can have a direct cause of parkinsons?

Answer 2

1. induced following viral encephalitis (von economo encephalitis)
2. MPTP intake

Question 3

What structure is damaged in parkinsons?

Answer 3

substantia nigra

Question 4

What substances accumulate in the substanta nigra in parkinsons?

Answer 4

Lewy bodies

Question 5

Oxidative stress during the formation of which molecule causes damage to the neurons in the substantia nigra?

Answer 5

melanin synthesis

Question 6

What are the Sx to parkinsons?

Answer 6

bradykinesia, muscle rigidity, resting tremor, mask-like feces

Question 7

There is an increase in what 2 other neurological conditions in parkinsons pts?

Answer 7

depression and dementia

Question 8

What is the early Tx for parkinsons?

Answer 8

L-DOPA

Question 9

What are 2 other options for the Tx of parkinsons?

Answer 9

neural transplantation and deep brain stimulation

Question 10

What are affected in ALS?

Answer 10

motor neurons of the brain and spinal cord

Question 11

What is the epidemiology of ALS?

Answer 11

2:100k worldwide, peaks in 5th decade, men > women, mainly in Guam and papa new gunea pig and parts of Japan

Question 12

What is the inheritance of familial ALS?

Answer 12

AD

Question 13

What is the mutation for familial ALS?

Answer 13

SOD1 (Ala –> Val) on 21q

Question 14

Where are the neurons that are affected for ALS?

Answer 14

motor neurons of the anterior horn of the cord, motor nuclei of the brainstem, UMN’s of the cerebral Cx, Betz cells of the motor Cx, myelinated fibers in the lateral CST, anterior nerve roots are atrophic and affected muscle are pale and shrunken.

IF IT SAYS MOTOR IT’S ALS OH GAWD.

Question 15

What are the Sx of ALS?

Answer 15

begins as weakness and wasting of the muscles (hands, arms) –> fasciculations of the muscles that dont move the limbs –> progress to speech problems –> resp weakness

intellectual capacity is A OK (Hawkings is still the boss)

Question 16

What is the inheritance to Huntingtons?

Answer 16

AD

Question 17

What are the clinical features of Huntingtons?

Answer 17

chora movements and dementia

Question 18

Where is there degeneration in Huntingtons?

Answer 18

striatal neurons

Question 19

What is the time span for the progression of Huntingtons?

Answer 19

~15 yrs

Question 20

What is the mutation on the HD gene 4p16.3?

Answer 20

trinucelotide repeat for huntingtin, increased repeats –> earlier onset “anticipation”

Question 21

What is the most common inherited ataxia?

Answer 21

Friedreich ataxia

Question 22

Whwat is the inheritence to Friedreich ataxia?

Answer 22

AR (triple repeat)

Question 23

When is the onset of Sx for Friedreich ataxia?

Answer 23

5-20 years

Question 24

What are the hallmark Sx of freidreich ataxia?

Answer 24

Combined ataxia of both upper and lower limbs, systemic abnormalities of skeletal system (scoliosis, pes cavus)

Question 25

Where is there degeneration in the spinal cord for friedreich ataxia?

Answer 25

dorsal and lateral columns (cause Rombers sign and you lose vibration and position)

Question 26

When do you lose stretch reflexes in friedreich ataxia?

Answer 26

early in disease

Question 27

Why do you get flexor spasms and extensor plantar response in friedreich ataxia?

Answer 27

CST involvements

Question 28

What causes the death in friedreich ataxia?

Answer 28

hypertrophic cardiomyopathy

Question 29

Where is the genetic defect in friedreich ataxia?

Answer 29

GAA expansion on chromosome 9, lose “frataxin” production

Question 30

What is the epidemiology of Alzheimers?

Answer 30

before 65 is 1-2%, after 85 is 10%, worldwide, women 2:1, most are sporatic

Question 31

What is the role of amyloid beta-protein with alzheimers?

Answer 31

They increase deposition in neuritic plauqes in the cerebral Cx, derived from APP

Question 32

What are neurofibrillary tangles for Alz?

Answer 32

proteins that form tau, which hold microtubules together. AD mustations of tau gene on c17 causes phosphorylation of tau causes NFT.

Question 33

There are a lot of what type of inclusion bodies in alzheimers?

Answer 33

Lewy bodies

Question 34

What are the external clinical features of alzheimers?

Answer 34

lose neruons, gliosis, narrow gyri, sulci expand, cortical atrophy

Question 35

What are Lewy bodies?

Answer 35

are abnormal structures in the mid-brain: microscopic protein deposits found in nerve cells that disrupt the brain’s normal functioning, causing it to slowly deteriorate.
Related to dementia

Question 36

What are the Sx of alzheimers?

Answer 36

gradual loss of memory and cognitive fxn, difficulty w/language, changes in behavior

Question 37

When does Pick’s disease occur?

Answer 37

***Mid adult life

Question 38

What are the clinical characteristics of Pick’s?

Answer 38

loss of fxn, dementia, sporatic, progress to death within 3-10 years, unilateral frontotemporal cortical atrophy

Question 39

What are “Pick bodies?”

Answer 39

inclusions that contain tau and argentophilic globules (hyperchromatic with silveer stain)

Question 40

What is frontotemporal lobar degeneration (FTLD)?

Answer 40

a progressive dementia, that accounts for 5-10% of dementia. FTLD is clinically characterized by behavioral and language disturbances that may precede or overshadow memory deficits. There currently is no treatment for this condition