Block 1 Metabloic Diseases

Question 0

What are symptoms of neuronal storage diseases?

Answer 0

Loss of cognitive function and epilepsy

Question 1

What are the two Neuronal storage diseases?

Answer 1

Neural ceroid lipofuscinoses

Tay-Sachs disease

Question 2

What are symptoms of neuronal ceroid lipofuscinoses?

Answer 2

Blindness, mental and motor deterioration, seizures

Question 3

When is the onset for neuronal ceroid lipofuscinoses?

Answer 3

Ranges from children to adults

Question 4

What accumulates in neuronal ceroid lipofuscinoses?

Answer 4

Lipofuscin within the neurons

Question 5

What enzyme is deficient on Tay-Sachs disease and what accumulates?

Answer 5

Hexosaminidase A is the enzyme that is missing leaving ganglioside 2 to accumulate in all tissues in the lysosomes

Question 6

What is the inheritance pattern of Tay-Sachs and what population is it more common in?

Answer 6

Autosomal recessive

More common in Ashkenazi Jews

Question 7

When does Tay-Sachs usually begins?

Answer 7

Early infantcy

Question 8

What are symptoms of Tay-Sachs?

Answer 8

Developmental delay, then paralysis and loss of neurological function.
Death within several years (4)
Infant just doesn’t reach milestones.

Question 9

What is nearly diagnosis of Tay-Sachs?

Answer 9

Cherry red spot in the retina

The cells around the macula turn white because of the accumulation of ganglioside.

Question 10

What are the two genetic metabolic brain diseases discussed?

Answer 10

Neuronal storage diseases

Leukodystrophies

Question 11

What are leukodystrophies and what are they characterized by?

Answer 11

Characterized by myelin abnormalities
Most are autosomal recessive
Involve lysosomal or peroxisomal enzymes
Deterioration of motor skills, spasticity, hypotonia, ataxia

Question 12

What is krabbe disease?

Answer 12

A leukodystrophy with the deficient enzyme being galactosylceramidase.
Because of the missing enzyme galactocerebroside accumulates and is converted to galactosylsphingosine which is toxic to Oligodendrocytes.

Question 13

What happens in krabbe disease?

Answer 13

Loss of myelin and Oligodendrocytes in the CNS and peripheral nerves

Question 14

What cells form in the brain in krabbe disease?

Answer 14

globoid cells (fat macrophages) in the brain

Question 15

When is the onset of krabbe disease?

Answer 15

3-6months

Question 16

What are the symptoms of krabbe disease?

Answer 16

Rapidly progressive muscle stiffness, weakness

Fingers get a curved look with hand paralysis

Question 17

What are the names for B1 (thiamine) deficiency?

Answer 17

Wernicke encephalopathy first and if lasting
Korsakoff’s syndrome
Associated with chronic alcoholism

Question 18

What characterizes wernicke’s syndrome?

Answer 18

CONFUSION, OPHTHALMOPLEGIA, ATAXIA

Hemorrhage and necrosis in mammillary bodies and walls of the third and fourth ventricles

Acute and reversible

Question 19

What is Korsakoff’s syndrome?

Answer 19

Progression of wernicke’s syndrome of b1 def

Still have confusion, ophthalmoplegia, and ataxia

In addition have memory disturbances, confabulation, cystic spaces in mammillary bodies, thalamic cysts
Prolonged mostly irreversible
People will make up stories they actually believe.

Question 20

What happens with vitamin b12 deficiency? (Cobalamin)

Answer 20

Reversible anemia

Subacute combined depredation of the spinal cord
Reversible until paraplegia appears
Swelling in myelin layers
Both ascending and descending tracts involved

Question 21

What happens with Carbon monoxide poisoning?

Answer 21

Injury is due to hypoxia

Particularly vulnerable areas are:
Cortex, hippocampus, purkinje cells

May see demyelination of white matter

Question 22

What does methanol poisoning affect?

Answer 22

Preferentially the retina

Degradation of ganglion cells

10ml causes blindness
30-100ml is fatal

Question 23

Ewhat does ethanol affect?

Answer 23

Cerebellum

Get truncal ataxia, unsteady gait, nystagmus.

Chronically get loss of granule cells, purkinje cells, and Bergmann cells