Disorders

Question 1

What type of plaque is quiescent and has no inflammation, no myelin, decreassed oligo nuclei, and decreased axons?
Astrocyte proliferation and gliosis is prominent?

Answer 1

Inactive MS plaque

Question 2

Whta is a shadow plaque?

Answer 2

• border btw NL and affected white matter NOT sharply circumscribed
• abnormally thinned out myelin sheaths
• partial and incomplete remyelination by surviving oligos

Question 3

Prognosis of Acute Necrotizing Hemorrhagic encephalomyelitis?

Answer 3

Fatal in most and if they survive they have significant defects

Question 4

What is granulovacuolar degeneration?

Answer 4

• small clear intraneuronal cytoplasmic vacuoles which contain ag=rgyrophilic granules
• normal aging finding
• abundant in AD hippocampi and olfactory bulb

Question 5

Vascular dementia prognosis and what do you see over the months/yrs?

Answer 5

• dementia improves with tx if caused by vasculitis
• develop multiple b/l GRAY matter and WHITE matter infarcts

Question 6

Most common cause of AD parkinsons disease?

Answer 6

LRRK2 mutation

Question 7

Mitochondrial dysfunction implicated as a contributing facotr based on AR forms of PD caused by mutations in the genes encoding proteins ___ ,_,&___

Answer 7

Mitochondrial dysfunction implicated as a contributing facotr based on AR forms of PD caused by mutations in the genes encoding proteins DJ-1, PINK1, & PARKIN

Question 8

Heterozygous mutations in glucocerebrosidases are the nmost imporant risk fators for development of ____, accounting for ~5% of these cases.

Answer 8

Heterozygous mutations in glucocerebrosidases are the nmost imporant risk fators for development of PD, accounting for ~5% of these cases.

Question 9

aTYPICAL PARKINSONIAN SYNDROMES OR pARKINSON-PLUS SYNDROMES?

HOW DO THESE RESPOND TO TREATMENT?

Answer 9

• PROGRESSIVE SUPRANUCLEAR PALSY
• MULTISYSTEM ATROPHY
• CORTICOBASAL DEGENERATION
• MINIMALLY RESPOND TO TX WITH L DOPA

Question 10

What is the age of onset most commonly seen with Huntington Disease?

Answer 10

4th-5th decades

(not 3rd-4th like other cards)

Question 11

Huntington Disease patients are at an increased risk of suicide, but the most common cause of death is?

Answer 11

Pneumonia

Question 12

What is the difference with HD when you inherit it from your mother vs father?

Answer 12

• Anticipation: repeat expansions during spermatogenesis leads to earlier onset form (juvenile)
• with maternal inheritance oogenesis makes same amount of copies so you can predict when onset of symptoms might occur and what symptoms

Question 13

Cognitive changes in HD are due to ___.

Answer 13

Cognitive changes in HD are due to neuronal loss from the cortex

Question 14

Pathogenesis of HD?

Answer 14

• Loss of medium spiny striatal neurons leads to dyssregulation of basal ganglia circuitry that modulates motor output
  
  • medium spiny neurons normally dampen motor activity

Question 15

Who is at risk for Friedreich ataxia?

Answer 15

• Cajun (Acadian) descent

Question 16

How long do patients with Friedreich Ataxia live and what are common causes of death?

Answer 16

• Most patients are wheelchair-bound within 5 years and die in second decade
• Intercurrent pulmonary infections and cardiac death = cause of death

Question 17

What are Leukodystrophies?

Answer 17

• AR inheritance
  
  • except adrenoleukodystrophy its X linked
• Lacks neuronal storage defects
• Diffuse involvement of white matter with deterioration of motor skills spasticity hypotonia or ataxia
• Leukodystrophies have insidious and progressive loss of crebral function at younger ages and is associated with diffuse and symmetric changes on imaging vs demyelinating diseases

Question 18

Late infantile and juvelnile form of Metachromatic leukodystrophy?

Answer 18

• late infantile is the most common
• motor sx and progresses gradually
• death 5-10 yrs

Question 19

Adult form of Metachromatic leukodystrophy?

Answer 19

• Psychiatric and cognitive sx initally
• motor sx comes later

Question 20

Pelizaeus Merzbacher Disease?

Answer 20

• X linked proteolipid protein and DM20
• Invariably fatal leukodystrophy beginning after birth or early childhood
• Pendular eye movements hypotonia choreoathetosis and pyramdial signs early
• Later sx are spasticity dementia and ataxia
• Trigoid pattern in tissues sections stained for myelin

Question 21

Canavan disease genetics and what is it?

Answer 21

• CHR 17 loss function in the deacetylatingenzyme aspartoacylase
  
  • accumulating of N-Acetylaspartic acid
• Spongy degeneration of white matter

Question 22

Canavan symptoms and onset?

Answer 22

• Megalocephaly
• severe mental deficits
• blindness
• white matter sx’s
• begins in earlly infancy and death in few years

Question 23

Alexander disease?

Answer 23

• Gain of function mutation in GFAP resulting in decreased capcity to form filaments and induction of stress response
  
  • accumulation of rosenthal fibers around blood vessels subpial and subependymal zones

Question 24

Vanishing white matter leukodystrophy?

Answer 24

• mutation in 5 subunits of eukaryotic initiation factor 2B
• begins first few yrs of life with ataxia and seizures
  
  • death few yrs after diagnosis

Question 25

Kearn Sayre syndrome symptoms and genetics?

Answer 25

• sporadic disorder with large mitochondrial DNA deletion
• sx are cerebellar ataxia, progressive external opthalmoplegia, pigmentary retinopathy and cardiac conduction defects

Question 26

Histology of Kearn Sayre syndrome?

Answer 26

• Spongiform change in gray and whtie matter
• Neuronal loss evident in cerebellum

Question 27

Signs and symptoms of exposure to very high dose radiation?

Answer 27

• Intractable nausea
• confusion
• convulsions
• rapid onset of coma followed by death

Question 28

Significance of methotrexate and radiation therapy co administration?

Answer 28

Combination of the two given concurrently or sequentially can act synergistically