Degenerative Disease

Question 1

What neurons are affected first in Hungtinton’s disease?

Answer 1

medium spiny type 1 neurons

Question 2

What neurotransmitters are affected in Huntington’s disease?

Answer 2

decreased GABA and ACh

increased NE and somatostatin

Question 3

What is the inheritance of Wilson’s disease?

Answer 3

AR

Question 4

What chromosome is associated with Wilson’s disease?

Answer 4

Ch 13

Question 5

What is seen on histology for Wilson’s disease?

Answer 5

Alzheimer type II astrocytes in grey matter, Opalski cells (microglia) in the GP

Question 6

What is seen on gross pathology of Wilson’s disease?

Answer 6

spongy red degeneration and cavitation of the putamen and GP with occasional atrophy of the superior and middle frontal gyri

Question 7

How is Wilson’s disease treated?

Answer 7

limit copper food (liver and chocolate), penicillamine, copper chelate

Question 8

What two disease have neurofibrillary tangles? What’s the difference?

Answer 8

Alzheimers (flamed) and Progressive supranuclear palsy (globose)

Question 9

What is an key history finding in patients with progressive supranuclear palsy?

Answer 9

multiple falls with poor response to L-DOPA

Question 10

What is seen on gross pathology with striatonigral degeneration?

Answer 10

atrophic/brown putamen and depigmented SN

Question 11

What is Hallorvorden Spatz disease?

Answer 11

AR, iron deposition disease

atrophic GP and SN leading to extrapyramidal and corticospinal dysfunction

Question 12

What is the effect of amantadine for Parkinson’s?

Answer 12

increases DA release

Question 13

Benztropine and trihexylphenidyl are both _____.

Answer 13

antiholinergics

Question 14

What medication can be used for tremor in parkinson’s disease?

Answer 14

propanolol

Question 15

______ deep brain stimulation is best for contralateral bradykinesia and tremor.

Answer 15

Subthalmic

Question 16

Shy Drager syndrome has loss of cells in the ______.

Answer 16

intermediolateral column of the spinal cord and putamen

Question 17

What is the inheritance of friedreich’s ataxia?

Answer 17

AR

Question 18

What is the genetics of friedreich’s ataxia?

Answer 18

Ch 9 trinucelotide repeat, Frataxin gene

Question 19

What is the inheritance of Lafora body disease?

Answer 19

AR

Question 20

What are the symptoms of Lafora body disease?

Answer 20

myoclonic seizures and dementia

Question 21

What is seen with Baltic myoclonus? What is the inheritance?

Answer 21

AR

myoclonic seizures with purkinje cell atrophy

Question 22

Spinal muscular atrophy is defined by degeneration of _____ and sparing of _____.

Answer 22

anterior horn and hypoglossal nuclei

corticospinal and bulbar nuclei

Question 23

What is the most common SMA?

Answer 23

SMA type 1 (Werdnig Hoffman)

Question 24

What is the genetics of SMA type 1? What is the inheritance?

Answer 24

AR

Ch 5

Question 25

Floppy infant syndrome is a result of ____.

Answer 25

SMA type 1

Question 26

All SMA types have _____ weakness with sparing of the _____.

Answer 26

proximal muscle

eyes

Question 27

Most ALS cases are sporadic but ____ percent are____ on Ch ____ due to mutation in ______.

Answer 27

10%

AD

Ch 21

superoxide dismutase

Question 28

What are Bunina bodies?

Answer 28

intracytoplasmic inclusions in ALS in anterior horn cells