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Flashcards in CNS Metabolic Diseases Deck (22)
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1
Q

This is the typical pattern of inheritance for neuronal storage diseases

A

autosomal recessive

2
Q

What are the two types of neuronal storage diseases?

A

neuronal ceroid lipofuscinosis

Tay-Sachs

3
Q

What is the particle that accumulates in cells associated with cellular aging?

A

lipofuscin

4
Q

Broadly, what is the pathology of neuronal ceroid lipofuscinosis?

A

lipofuscin accumulates due to an unknown metabolic process, is stored in lysosomes and ultimately damages cells

5
Q

Pathology of Tay-Sachs disease

A

Hex-A (hexosamidase-A) deficiency causing buildup of gangliosides

6
Q

Typical presentation of Tay-Sachs disease

A

baby that was healthy at birth not meeting developmental milestones

7
Q

What is almost diagnostic of Tay-Sachs?

A

“cherry red spot” on macula

8
Q

What is the pathology of the cherry red spot in Tay-Sachs?

A

surrounding neuronal retina tissue appears more gray than normal due to ganglioside buildup, making the macula appear cherry red

9
Q

Broadly, what are leukodystrophies?

A

diseases affecting white matter (oligodendrocytes)

10
Q

How can leukodystrophies be clinically differentiated from lysosomal storage diseases?

A

leukodystrophies affect motor function and not cognitive function

11
Q

Pathology of Krabbe disease

A

buildup of galactosylsphigosine and subsequent buildup of globoid cells (fat macrophages)

12
Q

What two conditions are associated with thiamine deficiency?

A

Wernicke encephalopathy

Karsakoff syndrome

13
Q

What is the macro-pathophys of Wernicke/Karsakoff?

A

hemorrhage and damage of mammillary bodies

14
Q

What is confantabulation and where it is seen?

A

false memories

seen in Karsakoff syndrome

15
Q

Opthalamoplegia

A

paralysis (often temporary) of extraoccular muscles seen in Wernicke encephalopathy

16
Q

Mild disease caused by B12 deficiency

A

pernicious anemia

17
Q

Severe disease caused by B12 deficiency

A

subacute combined degeneration of spinal cord

18
Q

Describe subacute combined degeneration of spinal cord

A

lower extremity weakness, ataxia, and weakness due to B12 deficiency. may cause paraplegia but is reversible until that point.

19
Q

This toxin turns the body and brain and abnormal pink color

A

CO

20
Q

What toxin preferentially affects the retina?

A

methanol

21
Q

What type of ataxia does ethanol cause?

A

truncal–muscles closest to trunk are most affected because alcohol affects the mid-cerebellar region preferentially

22
Q

Bergmann gliosis is seen in what condition?

A

chronic alcoholism